Mutagenetix > Incidental Mutation

Incidental Mutation 'R6238:2610028H24Rik'

505063

Institutional Source

Beutler Lab

Gene Symbol

2610028H24Rik

Ensembl Gene

ENSMUSG00000009114

Gene Name

RIKEN cDNA 2610028H24 gene

Synonyms

ORF67

MMRRC Submission

044401-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R6238 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76284915-76296944 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 76285096 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 2 (T2P)

Ref Sequence

ENSEMBL: ENSMUSP00000090061 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092406] [ENSMUST00000105415]

AlphaFold

G5E8K1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000092406
AA Change: T2P

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000090061
Gene: ENSMUSG00000009114
AA Change: T2P

Domain	Start	End	E-Value	Type
low complexity region	13	27	N/A	INTRINSIC
low complexity region	94	140	N/A	INTRINSIC
Pfam:DUF4587	145	216	7.6e-33	PFAM
low complexity region	223	235	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105415

SMART Domains

Protein: ENSMUSP00000101055
Gene: ENSMUSG00000009114

Domain	Start	End	E-Value	Type
low complexity region	73	119	N/A	INTRINSIC
Pfam:DUF4587	124	195	4.4e-34	PFAM
low complexity region	202	214	N/A	INTRINSIC

Meta Mutation Damage Score

0.1712

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610042L04Rik	A	G	14: 4,348,962 (GRCm38)	N41S	probably damaging	Het
4933402N03Rik	T	C	7: 130,747,863 (GRCm39)	D43G	probably benign	Het
Adcy10	C	A	1: 165,403,297 (GRCm39)	Y1598*	probably null	Het
Adgrv1	G	A	13: 81,614,402 (GRCm39)	T3997M	probably benign	Het
Amfr	A	C	8: 94,726,992 (GRCm39)	F74V	probably damaging	Het
Ankrd13a	T	C	5: 114,924,787 (GRCm39)	Y91H	probably benign	Het
Baiap3	A	G	17: 25,464,732 (GRCm39)	S767P	probably benign	Het
Car12	C	T	9: 66,661,008 (GRCm39)	T124I	probably damaging	Het
Casp9	G	T	4: 141,534,448 (GRCm39)	G286V	probably damaging	Het
Cc2d2a	T	A	5: 43,828,577 (GRCm39)	D18E	probably benign	Het
Cdc27	T	C	11: 104,419,270 (GRCm39)	N221D	probably damaging	Het
Cebpz	A	G	17: 79,244,339 (GRCm39)	S41P	possibly damaging	Het
Cenpo	T	A	12: 4,281,968 (GRCm39)	S10C	possibly damaging	Het
Chid1	A	G	7: 141,076,049 (GRCm39)	V368A	probably benign	Het
Clca3a1	C	A	3: 144,714,716 (GRCm39)	V634L	probably benign	Het
Cmtr1	A	G	17: 29,901,122 (GRCm39)	D683G	probably damaging	Het
Cpsf3	G	T	12: 21,350,163 (GRCm39)	R294L	probably damaging	Het
Ddrgk1	G	A	2: 130,496,599 (GRCm39)	T255M	possibly damaging	Het
Dennd6a	T	A	14: 26,337,813 (GRCm39)		probably null	Het
Dnah10	A	G	5: 124,820,743 (GRCm39)	R526G	probably damaging	Het
Dock3	G	A	9: 106,790,147 (GRCm39)	T1484I	probably benign	Het
Efcab10	T	C	12: 33,448,433 (GRCm39)	Y89H	probably damaging	Het
Etl4	T	A	2: 20,806,379 (GRCm39)	D1200E	probably damaging	Het
Fbn1	T	A	2: 125,166,865 (GRCm39)	D2017V	probably damaging	Het
Ftmt	G	A	18: 52,465,307 (GRCm39)	V208M	probably damaging	Het
Fzd10	T	C	5: 128,679,995 (GRCm39)	Y572H	probably damaging	Het
Gcc1	T	C	6: 28,420,742 (GRCm39)	K39E	probably damaging	Het
Hydin	A	G	8: 111,118,743 (GRCm39)		probably null	Het
Lif	A	G	11: 4,218,940 (GRCm39)	E73G	possibly damaging	Het
Lrtm1	C	A	14: 28,749,628 (GRCm39)	Q357K	probably benign	Het
Mef2d	T	A	3: 88,066,852 (GRCm39)	L205Q	probably damaging	Het
Naalad2	T	A	9: 18,296,361 (GRCm39)	E96D	probably damaging	Het
Nbas	T	C	12: 13,532,596 (GRCm39)	I1768T	probably benign	Het
Nodal	T	C	10: 61,259,258 (GRCm39)	S232P	probably damaging	Het
Or52ab7	A	T	7: 102,978,115 (GRCm39)	I141F	possibly damaging	Het
Or8b12c	A	G	9: 37,715,317 (GRCm39)	T37A	probably benign	Het
Parl	G	A	16: 20,120,963 (GRCm39)	R39C	possibly damaging	Het
Pcdha9	G	A	18: 37,132,028 (GRCm39)	V366I	probably benign	Het
Pdzd8	A	G	19: 59,288,994 (GRCm39)	V802A	probably benign	Het
Plcl2	T	C	17: 50,913,873 (GRCm39)	V294A	probably damaging	Het
Plxna2	T	A	1: 194,472,504 (GRCm39)	S1083T	probably benign	Het
Polr2a	G	T	11: 69,638,047 (GRCm39)	L141I	possibly damaging	Het
Ptpre	C	A	7: 135,272,909 (GRCm39)	R468S	probably damaging	Het
Raet1e	T	A	10: 22,056,770 (GRCm39)	N115K	probably benign	Het
Rfx8	C	A	1: 39,709,554 (GRCm39)	S491I	probably damaging	Het
Rpe	T	A	1: 66,740,807 (GRCm39)	L48*	probably null	Het
Skint5	A	T	4: 113,800,064 (GRCm39)		probably null	Het
Spata24	C	A	18: 35,793,389 (GRCm39)	S111I	possibly damaging	Het
Suz12	G	C	11: 79,893,006 (GRCm39)		probably benign	Het
Taf4	T	A	2: 179,573,832 (GRCm39)	I679F	probably damaging	Het
Tlr1	G	T	5: 65,084,472 (GRCm39)	P35Q	possibly damaging	Het
Tonsl	T	C	15: 76,520,418 (GRCm39)		probably null	Het
Tsen54	G	A	11: 115,711,513 (GRCm39)	R310H	probably benign	Het
Ttc7b	A	G	12: 100,461,681 (GRCm39)	S99P	probably benign	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Uhmk1	T	A	1: 170,027,563 (GRCm39)	N378I	probably damaging	Het
Vmn2r107	A	G	17: 20,565,849 (GRCm39)	T55A	probably benign	Het
Vmn2r74	C	T	7: 85,601,280 (GRCm39)	C786Y	probably damaging	Het
Wdr20rt	C	T	12: 65,272,964 (GRCm39)		probably benign	Het
Zfand2a	T	A	5: 139,467,746 (GRCm39)	H42L	probably damaging	Het
Zfp990	T	A	4: 145,264,483 (GRCm39)	C494S	probably damaging	Het
Zkscan4	A	T	13: 21,668,757 (GRCm39)	R403W	possibly damaging	Het

Other mutations in 2610028H24Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02400:2610028H24Rik	APN	10	76,290,644 (GRCm39)	missense	possibly damaging	0.75
IGL02951:2610028H24Rik	APN	10	76,290,536 (GRCm39)	splice site	probably benign
PIT4283001:2610028H24Rik	UTSW	10	76,285,093 (GRCm39)	start codon destroyed	probably benign	0.01
R0013:2610028H24Rik	UTSW	10	76,293,346 (GRCm39)	missense	probably benign	0.32
R0295:2610028H24Rik	UTSW	10	76,290,642 (GRCm39)	missense	probably damaging	0.99
R2018:2610028H24Rik	UTSW	10	76,293,899 (GRCm39)	missense	possibly damaging	0.85
R2019:2610028H24Rik	UTSW	10	76,293,899 (GRCm39)	missense	possibly damaging	0.85
R2128:2610028H24Rik	UTSW	10	76,293,349 (GRCm39)	missense	possibly damaging	0.93
R2129:2610028H24Rik	UTSW	10	76,293,349 (GRCm39)	missense	possibly damaging	0.93
R4776:2610028H24Rik	UTSW	10	76,293,346 (GRCm39)	missense	probably benign	0.16
R5638:2610028H24Rik	UTSW	10	76,288,729 (GRCm39)	missense	probably benign	0.17
R5808:2610028H24Rik	UTSW	10	76,286,482 (GRCm39)	missense	probably damaging	1.00
R5896:2610028H24Rik	UTSW	10	76,288,664 (GRCm39)	missense	probably benign	0.01
R5990:2610028H24Rik	UTSW	10	76,285,123 (GRCm39)	missense	probably benign	0.08
R6505:2610028H24Rik	UTSW	10	76,285,115 (GRCm39)	missense	probably benign	0.02
R7741:2610028H24Rik	UTSW	10	76,290,551 (GRCm39)	missense	probably damaging	0.99
R9210:2610028H24Rik	UTSW	10	76,287,165 (GRCm39)	missense	probably damaging	0.99
R9558:2610028H24Rik	UTSW	10	76,290,576 (GRCm39)	missense	probably damaging	1.00
X0026:2610028H24Rik	UTSW	10	76,293,925 (GRCm39)	missense	possibly damaging	0.91
Z1176:2610028H24Rik	UTSW	10	76,288,697 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCCTCACAGGCTAGCAACTG -3'
(R):5'- TGTTCATTAGGAAGCCAGACGC -3'

Sequencing Primer
(F):5'- TAGCAACTGTCACAGACTTCAGGG -3'
(R):5'- CGCAGGGAAAGGGTTTGC -3'

Posted On

2018-02-28