Mutagenetix > Incidental Mutation

Incidental Mutation 'R1343:Ralgapa1'

156438

Institutional Source

Beutler Lab

Gene Symbol

Ralgapa1

Ensembl Gene

ENSMUSG00000021027

Gene Name

Ral GTPase activating protein, alpha subunit 1

Synonyms

Garnl1, 4930400K19Rik, Tulip1, 2310003F20Rik

MMRRC Submission

039408-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.802) question?

Stock #

R1343 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55649681-55867952 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 55754763 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 1176 (H1176L)

Ref Sequence

ENSEMBL: ENSMUSP00000151498 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085385] [ENSMUST00000110687] [ENSMUST00000219432] [ENSMUST00000220367] [ENSMUST00000226244]

AlphaFold

Q6GYP7

Predicted Effect

probably damaging
Transcript: ENSMUST00000085385
AA Change: H1176L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000082503
Gene: ENSMUSG00000021027
AA Change: H1176L

Domain	Start	End	E-Value	Type
low complexity region	644	651	N/A	INTRINSIC
low complexity region	676	690	N/A	INTRINSIC
low complexity region	692	704	N/A	INTRINSIC
low complexity region	894	915	N/A	INTRINSIC
low complexity region	1386	1395	N/A	INTRINSIC
low complexity region	1784	1798	N/A	INTRINSIC
Pfam:Rap_GAP	1824	2003	7.4e-66	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000110687
AA Change: H1176L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106315
Gene: ENSMUSG00000021027
AA Change: H1176L

Domain	Start	End	E-Value	Type
low complexity region	644	651	N/A	INTRINSIC
low complexity region	676	690	N/A	INTRINSIC
low complexity region	692	704	N/A	INTRINSIC
low complexity region	894	915	N/A	INTRINSIC
low complexity region	1386	1395	N/A	INTRINSIC
low complexity region	1784	1798	N/A	INTRINSIC
Pfam:Rap_GAP	1824	2001	1.9e-48	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000219432
AA Change: H1223L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219529

Predicted Effect

probably damaging
Transcript: ENSMUST00000220367
AA Change: H1176L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000226244
AA Change: H1632L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a major subunit of the RAL-GTPase activating protein. A similar protein in mouse binds E12, a transcriptional regulator of immunoglobulin genes. The mouse protein also functions in skeletal muscle by binding to the regulatory 14-3-3 proteins upon stimulation with insulin or muscle contraction. A pseudogene of this gene has been identified on chromosome 9. [provided by RefSeq, Oct 2016]

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankle2	T	C	5: 110,385,832 (GRCm39)	V361A	probably damaging	Het
Art1	A	G	7: 101,756,160 (GRCm39)	Y117C	probably damaging	Het
Cecr2	T	C	6: 120,731,672 (GRCm39)	Y215H	probably damaging	Het
Col6a3	T	C	1: 90,696,069 (GRCm39)	E2666G	unknown	Het
Cps1	T	A	1: 67,248,768 (GRCm39)	V1165E	probably damaging	Het
Gpr65	A	T	12: 98,241,888 (GRCm39)	K180N	probably benign	Het
Gsto2	A	T	19: 47,873,146 (GRCm39)		probably null	Het
Hoxa13	CCG	CCGCG	6: 52,237,618 (GRCm39)		probably null	Het
Kif19a	A	G	11: 114,676,653 (GRCm39)	D494G	probably benign	Het
Lnx1	T	C	5: 74,758,040 (GRCm39)	R695G	probably damaging	Het
Lonp1	A	G	17: 56,927,272 (GRCm39)	L327P	probably damaging	Het
Nat8	T	C	6: 85,807,603 (GRCm39)	T177A	probably damaging	Het
Nek1	T	A	8: 61,481,709 (GRCm39)	M208K	probably damaging	Het
Obsl1	G	T	1: 75,469,223 (GRCm39)	H1239Q	probably damaging	Het
Or52n2b	A	G	7: 104,565,834 (GRCm39)	I223T	probably damaging	Het
Pdlim2	C	T	14: 70,402,228 (GRCm39)	R296H	probably damaging	Het
Pirb	A	T	7: 3,720,637 (GRCm39)	L287Q	probably benign	Het
Prmt3	C	T	7: 49,467,856 (GRCm39)	S354L	probably benign	Het
Serpinb9h	G	A	13: 33,588,468 (GRCm39)	C351Y	possibly damaging	Het
Slc35e1	T	C	8: 73,246,415 (GRCm39)		probably benign	Het
Strc	T	C	2: 121,195,596 (GRCm39)	S1618G	probably benign	Het
Syne2	T	C	12: 76,080,417 (GRCm39)	S4784P	probably damaging	Het
Usp14	T	C	18: 10,016,623 (GRCm39)	T73A	probably benign	Het
Vmn2r53	G	A	7: 12,318,701 (GRCm39)	P458L	probably benign	Het
Zfp292	T	C	4: 34,805,238 (GRCm39)	D2602G	probably damaging	Het

Other mutations in Ralgapa1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Ralgapa1	APN	12	55,769,558 (GRCm39)	missense	probably damaging	0.98
IGL00494:Ralgapa1	APN	12	55,793,970 (GRCm39)	missense	probably damaging	1.00
IGL00731:Ralgapa1	APN	12	55,749,237 (GRCm39)	missense	possibly damaging	0.94
IGL00851:Ralgapa1	APN	12	55,756,360 (GRCm39)	missense	possibly damaging	0.93
IGL01133:Ralgapa1	APN	12	55,689,144 (GRCm39)	missense	probably damaging	0.99
IGL01133:Ralgapa1	APN	12	55,689,133 (GRCm39)	missense	probably damaging	1.00
IGL01354:Ralgapa1	APN	12	55,824,101 (GRCm39)	missense	possibly damaging	0.68
IGL01514:Ralgapa1	APN	12	55,766,442 (GRCm39)	missense	probably damaging	0.97
IGL02033:Ralgapa1	APN	12	55,689,262 (GRCm39)	missense	possibly damaging	0.69
IGL02064:Ralgapa1	APN	12	55,754,862 (GRCm39)	missense	probably damaging	1.00
IGL02556:Ralgapa1	APN	12	55,689,234 (GRCm39)	missense	possibly damaging	0.80
IGL02605:Ralgapa1	APN	12	55,759,450 (GRCm39)	missense	possibly damaging	0.90
IGL02657:Ralgapa1	APN	12	55,720,292 (GRCm39)	missense	probably damaging	1.00
IGL02676:Ralgapa1	APN	12	55,723,202 (GRCm39)	missense	probably damaging	1.00
IGL02894:Ralgapa1	APN	12	55,763,854 (GRCm39)	missense	possibly damaging	0.79
IGL02944:Ralgapa1	APN	12	55,804,736 (GRCm39)	missense	probably benign	0.01
Anhydrous	UTSW	12	55,842,563 (GRCm39)	critical splice acceptor site	probably null
Aqueous	UTSW	12	55,745,639 (GRCm39)	missense	probably damaging	1.00
bantam	UTSW	12	55,769,558 (GRCm39)	critical splice donor site	probably null
Deliquescent	UTSW	12	55,829,685 (GRCm39)	splice site	probably benign
wickedwarlock	UTSW	12	55,824,077 (GRCm39)	missense	probably null	0.99
F5770:Ralgapa1	UTSW	12	55,842,438 (GRCm39)	splice site	probably benign
IGL03046:Ralgapa1	UTSW	12	55,741,942 (GRCm39)	missense	probably damaging	1.00
R0011:Ralgapa1	UTSW	12	55,833,048 (GRCm39)	missense	probably damaging	0.99
R0096:Ralgapa1	UTSW	12	55,786,290 (GRCm39)	missense	probably damaging	1.00
R0277:Ralgapa1	UTSW	12	55,724,023 (GRCm39)	missense	probably damaging	0.99
R0323:Ralgapa1	UTSW	12	55,724,023 (GRCm39)	missense	probably damaging	0.99
R0333:Ralgapa1	UTSW	12	55,829,685 (GRCm39)	splice site	probably benign
R0361:Ralgapa1	UTSW	12	55,723,354 (GRCm39)	missense	possibly damaging	0.93
R0385:Ralgapa1	UTSW	12	55,723,823 (GRCm39)	missense	probably damaging	1.00
R0386:Ralgapa1	UTSW	12	55,754,852 (GRCm39)	missense	probably benign	0.03
R0498:Ralgapa1	UTSW	12	55,736,576 (GRCm39)	missense	possibly damaging	0.66
R0552:Ralgapa1	UTSW	12	55,723,550 (GRCm39)	missense	probably benign	0.27
R0564:Ralgapa1	UTSW	12	55,829,670 (GRCm39)	missense	possibly damaging	0.84
R0611:Ralgapa1	UTSW	12	55,842,483 (GRCm39)	missense	probably damaging	0.99
R0730:Ralgapa1	UTSW	12	55,712,448 (GRCm39)	missense	probably damaging	1.00
R0741:Ralgapa1	UTSW	12	55,723,366 (GRCm39)	missense	probably damaging	0.99
R0815:Ralgapa1	UTSW	12	55,829,562 (GRCm39)	splice site	probably benign
R0815:Ralgapa1	UTSW	12	55,809,466 (GRCm39)	nonsense	probably null
R0863:Ralgapa1	UTSW	12	55,829,562 (GRCm39)	splice site	probably benign
R0863:Ralgapa1	UTSW	12	55,809,466 (GRCm39)	nonsense	probably null
R1068:Ralgapa1	UTSW	12	55,837,095 (GRCm39)	critical splice donor site	probably null
R1147:Ralgapa1	UTSW	12	55,749,265 (GRCm39)	missense	probably damaging	1.00
R1147:Ralgapa1	UTSW	12	55,749,265 (GRCm39)	missense	probably damaging	1.00
R1256:Ralgapa1	UTSW	12	55,809,446 (GRCm39)	missense	possibly damaging	0.94
R1378:Ralgapa1	UTSW	12	55,723,711 (GRCm39)	missense	probably damaging	1.00
R1474:Ralgapa1	UTSW	12	55,788,265 (GRCm39)	missense	probably benign	0.09
R1494:Ralgapa1	UTSW	12	55,731,309 (GRCm39)	missense	probably damaging	0.99
R1593:Ralgapa1	UTSW	12	55,817,488 (GRCm39)	missense	probably damaging	1.00
R1607:Ralgapa1	UTSW	12	55,788,321 (GRCm39)	missense	probably damaging	1.00
R1681:Ralgapa1	UTSW	12	55,809,388 (GRCm39)	missense	probably benign	0.35
R1689:Ralgapa1	UTSW	12	55,723,552 (GRCm39)	missense	possibly damaging	0.79
R1714:Ralgapa1	UTSW	12	55,689,174 (GRCm39)	missense	probably damaging	1.00
R1832:Ralgapa1	UTSW	12	55,804,752 (GRCm39)	missense	probably benign	0.03
R1870:Ralgapa1	UTSW	12	55,723,817 (GRCm39)	missense	possibly damaging	0.66
R2040:Ralgapa1	UTSW	12	55,833,107 (GRCm39)	missense	probably damaging	1.00
R2043:Ralgapa1	UTSW	12	55,723,811 (GRCm39)	missense	probably damaging	0.99
R2046:Ralgapa1	UTSW	12	55,741,945 (GRCm39)	missense	probably damaging	1.00
R2109:Ralgapa1	UTSW	12	55,822,973 (GRCm39)	missense	possibly damaging	0.90
R2114:Ralgapa1	UTSW	12	55,833,134 (GRCm39)	critical splice acceptor site	probably null
R2115:Ralgapa1	UTSW	12	55,833,134 (GRCm39)	critical splice acceptor site	probably null
R2202:Ralgapa1	UTSW	12	55,659,585 (GRCm39)	splice site	probably null
R2203:Ralgapa1	UTSW	12	55,659,585 (GRCm39)	splice site	probably null
R2233:Ralgapa1	UTSW	12	55,763,856 (GRCm39)	missense	probably benign	0.13
R2235:Ralgapa1	UTSW	12	55,763,856 (GRCm39)	missense	probably benign	0.13
R2341:Ralgapa1	UTSW	12	55,723,909 (GRCm39)	missense	possibly damaging	0.66
R2507:Ralgapa1	UTSW	12	55,764,986 (GRCm39)	missense	probably damaging	1.00
R2508:Ralgapa1	UTSW	12	55,764,986 (GRCm39)	missense	probably damaging	1.00
R2972:Ralgapa1	UTSW	12	55,867,540 (GRCm39)	missense	possibly damaging	0.61
R3160:Ralgapa1	UTSW	12	55,756,371 (GRCm39)	missense	probably damaging	1.00
R3162:Ralgapa1	UTSW	12	55,756,371 (GRCm39)	missense	probably damaging	1.00
R3401:Ralgapa1	UTSW	12	55,705,922 (GRCm39)	missense	possibly damaging	0.66
R3416:Ralgapa1	UTSW	12	55,817,398 (GRCm39)	splice site	probably benign
R3499:Ralgapa1	UTSW	12	55,741,928 (GRCm39)	splice site	probably benign
R3799:Ralgapa1	UTSW	12	55,705,915 (GRCm39)	missense	probably damaging	1.00
R3948:Ralgapa1	UTSW	12	55,745,552 (GRCm39)	missense	probably damaging	1.00
R4039:Ralgapa1	UTSW	12	55,842,486 (GRCm39)	missense	probably damaging	0.99
R4120:Ralgapa1	UTSW	12	55,687,429 (GRCm39)	missense	probably damaging	1.00
R4165:Ralgapa1	UTSW	12	55,687,429 (GRCm39)	missense	probably damaging	1.00
R4166:Ralgapa1	UTSW	12	55,687,429 (GRCm39)	missense	probably damaging	1.00
R4212:Ralgapa1	UTSW	12	55,786,115 (GRCm39)	critical splice donor site	probably null
R4232:Ralgapa1	UTSW	12	55,687,429 (GRCm39)	missense	probably damaging	1.00
R4233:Ralgapa1	UTSW	12	55,687,429 (GRCm39)	missense	probably damaging	1.00
R4234:Ralgapa1	UTSW	12	55,687,429 (GRCm39)	missense	probably damaging	1.00
R4235:Ralgapa1	UTSW	12	55,687,429 (GRCm39)	missense	probably damaging	1.00
R4399:Ralgapa1	UTSW	12	55,842,563 (GRCm39)	critical splice acceptor site	probably null
R4698:Ralgapa1	UTSW	12	55,724,061 (GRCm39)	splice site	probably null
R4715:Ralgapa1	UTSW	12	55,740,243 (GRCm39)	missense	probably damaging	1.00
R4755:Ralgapa1	UTSW	12	55,759,533 (GRCm39)	missense	probably damaging	1.00
R4810:Ralgapa1	UTSW	12	55,841,778 (GRCm39)	critical splice donor site	probably null
R4827:Ralgapa1	UTSW	12	55,723,222 (GRCm39)	missense	probably damaging	1.00
R4849:Ralgapa1	UTSW	12	55,745,588 (GRCm39)	missense	probably damaging	0.99
R4934:Ralgapa1	UTSW	12	55,809,359 (GRCm39)	missense	possibly damaging	0.94
R5006:Ralgapa1	UTSW	12	55,764,899 (GRCm39)	missense	probably benign	0.02
R5114:Ralgapa1	UTSW	12	55,659,508 (GRCm39)	missense	possibly damaging	0.84
R5140:Ralgapa1	UTSW	12	55,712,459 (GRCm39)	missense	probably damaging	1.00
R5140:Ralgapa1	UTSW	12	55,822,937 (GRCm39)	missense	probably damaging	1.00
R5168:Ralgapa1	UTSW	12	55,804,817 (GRCm39)	missense	probably benign	0.05
R5407:Ralgapa1	UTSW	12	55,723,582 (GRCm39)	missense	possibly damaging	0.93
R5441:Ralgapa1	UTSW	12	55,766,408 (GRCm39)	missense	probably damaging	1.00
R5473:Ralgapa1	UTSW	12	55,723,495 (GRCm39)	missense	probably benign	0.41
R5624:Ralgapa1	UTSW	12	55,659,523 (GRCm39)	missense	probably damaging	1.00
R5766:Ralgapa1	UTSW	12	55,867,551 (GRCm39)	start codon destroyed	probably null	0.99
R5826:Ralgapa1	UTSW	12	55,723,898 (GRCm39)	missense	probably damaging	1.00
R5950:Ralgapa1	UTSW	12	55,785,050 (GRCm39)	missense	possibly damaging	0.58
R5980:Ralgapa1	UTSW	12	55,817,401 (GRCm39)	splice site	probably null
R6019:Ralgapa1	UTSW	12	55,730,827 (GRCm39)	missense	possibly damaging	0.92
R6065:Ralgapa1	UTSW	12	55,804,709 (GRCm39)	critical splice donor site	probably null
R6326:Ralgapa1	UTSW	12	55,793,931 (GRCm39)	missense	probably damaging	1.00
R6355:Ralgapa1	UTSW	12	55,745,639 (GRCm39)	missense	probably damaging	1.00
R6408:Ralgapa1	UTSW	12	55,730,695 (GRCm39)	nonsense	probably null
R6448:Ralgapa1	UTSW	12	55,766,446 (GRCm39)	missense	probably benign	0.14
R6453:Ralgapa1	UTSW	12	55,785,104 (GRCm39)	missense	probably damaging	1.00
R6590:Ralgapa1	UTSW	12	55,769,558 (GRCm39)	critical splice donor site	probably null
R6690:Ralgapa1	UTSW	12	55,769,558 (GRCm39)	critical splice donor site	probably null
R6738:Ralgapa1	UTSW	12	55,809,512 (GRCm39)	missense	probably damaging	1.00
R6836:Ralgapa1	UTSW	12	55,651,058 (GRCm39)	splice site	probably null
R6936:Ralgapa1	UTSW	12	55,832,997 (GRCm39)	missense	probably damaging	0.99
R6945:Ralgapa1	UTSW	12	55,822,976 (GRCm39)	missense	possibly damaging	0.64
R7028:Ralgapa1	UTSW	12	55,804,844 (GRCm39)	missense	probably damaging	1.00
R7075:Ralgapa1	UTSW	12	55,867,508 (GRCm39)	missense	possibly damaging	0.66
R7076:Ralgapa1	UTSW	12	55,768,361 (GRCm39)	missense	possibly damaging	0.82
R7098:Ralgapa1	UTSW	12	55,837,095 (GRCm39)	critical splice donor site	probably null
R7231:Ralgapa1	UTSW	12	55,650,976 (GRCm39)	missense	probably damaging	1.00
R7254:Ralgapa1	UTSW	12	55,741,978 (GRCm39)	missense	probably damaging	1.00
R7326:Ralgapa1	UTSW	12	55,755,789 (GRCm39)	missense	probably damaging	1.00
R7485:Ralgapa1	UTSW	12	55,759,457 (GRCm39)	missense	probably damaging	1.00
R7580:Ralgapa1	UTSW	12	55,765,013 (GRCm39)	missense	probably benign	0.00
R7677:Ralgapa1	UTSW	12	55,705,928 (GRCm39)	missense	probably damaging	0.96
R7702:Ralgapa1	UTSW	12	55,756,341 (GRCm39)	missense	probably damaging	1.00
R7702:Ralgapa1	UTSW	12	55,756,340 (GRCm39)	missense	probably damaging	1.00
R7707:Ralgapa1	UTSW	12	55,824,077 (GRCm39)	missense	probably null	0.99
R7723:Ralgapa1	UTSW	12	55,788,298 (GRCm39)	missense	probably benign
R7763:Ralgapa1	UTSW	12	55,804,740 (GRCm39)	missense	probably benign	0.28
R7791:Ralgapa1	UTSW	12	55,788,304 (GRCm39)	missense	probably damaging	0.97
R7812:Ralgapa1	UTSW	12	55,766,413 (GRCm39)	missense	possibly damaging	0.67
R7868:Ralgapa1	UTSW	12	55,659,423 (GRCm39)	missense	probably benign	0.00
R7895:Ralgapa1	UTSW	12	55,793,934 (GRCm39)	missense	probably benign	0.44
R7896:Ralgapa1	UTSW	12	55,744,663 (GRCm39)	missense	probably benign	0.01
R8004:Ralgapa1	UTSW	12	55,749,242 (GRCm39)	missense	probably damaging	0.99
R8094:Ralgapa1	UTSW	12	55,829,631 (GRCm39)	missense	probably damaging	0.99
R8213:Ralgapa1	UTSW	12	55,769,699 (GRCm39)	missense	probably damaging	0.99
R8307:Ralgapa1	UTSW	12	55,788,308 (GRCm39)	missense	probably damaging	0.99
R8423:Ralgapa1	UTSW	12	55,705,847 (GRCm39)	missense	probably damaging	0.99
R8462:Ralgapa1	UTSW	12	55,723,303 (GRCm39)	missense	possibly damaging	0.90
R8469:Ralgapa1	UTSW	12	55,786,198 (GRCm39)	missense	probably damaging	1.00
R8675:Ralgapa1	UTSW	12	55,785,002 (GRCm39)	missense	possibly damaging	0.93
R8802:Ralgapa1	UTSW	12	55,785,101 (GRCm39)	missense	probably damaging	0.99
R8937:Ralgapa1	UTSW	12	55,749,345 (GRCm39)	missense	probably damaging	0.96
R8953:Ralgapa1	UTSW	12	55,867,546 (GRCm39)	missense	probably damaging	0.99
R8974:Ralgapa1	UTSW	12	55,723,791 (GRCm39)	missense	probably benign
R9011:Ralgapa1	UTSW	12	55,652,314 (GRCm39)	intron	probably benign
R9089:Ralgapa1	UTSW	12	55,723,351 (GRCm39)	missense	probably damaging	0.97
R9124:Ralgapa1	UTSW	12	55,781,881 (GRCm39)	missense	probably damaging	1.00
R9254:Ralgapa1	UTSW	12	55,769,583 (GRCm39)	missense	probably damaging	1.00
R9320:Ralgapa1	UTSW	12	55,755,843 (GRCm39)	missense	possibly damaging	0.59
R9379:Ralgapa1	UTSW	12	55,769,583 (GRCm39)	missense	probably damaging	1.00
R9446:Ralgapa1	UTSW	12	55,754,808 (GRCm39)	missense	probably damaging	0.97
R9684:Ralgapa1	UTSW	12	55,659,485 (GRCm39)	missense	possibly damaging	0.63
Z1176:Ralgapa1	UTSW	12	55,755,865 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2014-02-11