Mutagenetix > Incidental Mutation

Incidental Mutation 'R5489:5730455P16Rik'

431998

Institutional Source

Beutler Lab

Gene Symbol

5730455P16Rik

Ensembl Gene

ENSMUSG00000057181

Gene Name

RIKEN cDNA 5730455P16 gene

Synonyms

MMRRC Submission

043050-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.862) question?

Stock #

R5489 (G1)

Quality Score

223

Status

Validated

Chromosome

Chromosomal Location

80251318-80268860 bp(-) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

A to T at 80268778 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1 (M1K)

Ref Sequence

ENSEMBL: ENSMUSP00000120606 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103225] [ENSMUST00000134274] [ENSMUST00000179332]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000103225
AA Change: D10E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000099515
Gene: ENSMUSG00000057181
AA Change: D10E

Domain	Start	End	E-Value	Type
low complexity region	7	31	N/A	INTRINSIC
Pfam:Njmu-R1	38	390	1.5e-204	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000134274
AA Change: M1K

SMART Domains

Protein: ENSMUSP00000120606
Gene: ENSMUSG00000057181
AA Change: M1K

Domain	Start	End	E-Value	Type
low complexity region	26	58	N/A	INTRINSIC
Pfam:Njmu-R1	62	214	1.6e-84	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000179332
AA Change: D10E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000135972
Gene: ENSMUSG00000057181
AA Change: D10E

Domain	Start	End	E-Value	Type
low complexity region	7	31	N/A	INTRINSIC
Pfam:Njmu-R1	38	391	5.9e-231	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 98.4%
3x: 97.4%
10x: 95.4%
20x: 91.6%

Validation Efficiency

95% (57/60)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	A	7: 119,851,473 (GRCm39)	V817D	probably damaging	Het
Aqr	T	C	2: 113,963,554 (GRCm39)	N632S	probably damaging	Het
Bms1	T	C	6: 118,390,706 (GRCm39)	T208A	possibly damaging	Het
Brd8	A	T	18: 34,741,698 (GRCm39)		probably null	Het
Caln1	G	T	5: 130,443,673 (GRCm39)	R2L	possibly damaging	Het
Cdk17	A	G	10: 93,068,274 (GRCm39)	T344A	probably damaging	Het
Chd8	A	T	14: 52,450,505 (GRCm39)		probably benign	Het
Clec14a	A	G	12: 58,315,035 (GRCm39)	F196L	probably damaging	Het
Clec2f	T	C	6: 128,997,449 (GRCm39)		noncoding transcript	Het
Col4a1	A	T	8: 11,362,550 (GRCm39)		probably benign	Het
Col9a3	G	A	2: 180,258,318 (GRCm39)	R579H	probably damaging	Het
Cyb561	A	G	11: 105,826,349 (GRCm39)	V202A	probably benign	Het
Cyp2c69	T	G	19: 39,839,603 (GRCm39)	Q340P	probably null	Het
D630003M21Rik	T	A	2: 158,058,941 (GRCm39)	T320S	probably benign	Het
D630045J12Rik	A	T	6: 38,173,782 (GRCm39)	S129T	possibly damaging	Het
Ddx54	A	G	5: 120,762,786 (GRCm39)	T636A	probably benign	Het
Dnah8	T	G	17: 31,009,930 (GRCm39)	F3774V	probably damaging	Het
Ern1	A	G	11: 106,298,355 (GRCm39)	S674P	probably damaging	Het
Fam13a	A	T	6: 59,001,303 (GRCm39)	L8Q	probably null	Het
Fam83b	T	C	9: 76,452,881 (GRCm39)	N62S	probably benign	Het
Foxred1	A	T	9: 35,121,266 (GRCm39)	V94E	probably damaging	Het
Frmd8	T	A	19: 5,902,680 (GRCm39)	Q457L	probably damaging	Het
Gvin3	T	A	7: 106,200,797 (GRCm39)		noncoding transcript	Het
Heatr6	A	G	11: 83,665,258 (GRCm39)	E741G	probably damaging	Het
Hnrnpab	A	G	11: 51,495,640 (GRCm39)	L133S	probably damaging	Het
Itga2	A	T	13: 114,979,971 (GRCm39)	W1077R	probably damaging	Het
Kat6b	A	G	14: 21,719,332 (GRCm39)	D1228G	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Kmt2a	A	T	9: 44,752,335 (GRCm39)		probably benign	Het
Leap2	T	G	11: 53,313,240 (GRCm39)	*77C	probably null	Het
Mmp20	A	G	9: 7,643,958 (GRCm39)		probably null	Het
Mrps9	T	G	1: 42,937,593 (GRCm39)		probably benign	Het
Muc2	T	C	7: 141,305,169 (GRCm39)	S158P	probably benign	Het
Mus81	T	C	19: 5,537,917 (GRCm39)		probably benign	Het
Nrip3	T	C	7: 109,361,045 (GRCm39)	T210A	probably damaging	Het
Or52s1b	T	C	7: 102,822,658 (GRCm39)	Y62C	probably damaging	Het
Padi2	T	C	4: 140,671,799 (GRCm39)	F509S	probably damaging	Het
Pcdha12	A	G	18: 37,155,260 (GRCm39)	T660A	probably benign	Het
Pdzd2	G	A	15: 12,382,762 (GRCm39)	P1197L	probably benign	Het
Rec8	A	T	14: 55,860,283 (GRCm39)	Q291L	probably benign	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Sart3	A	G	5: 113,909,441 (GRCm39)	W86R	probably damaging	Het
Slc17a4	A	G	13: 24,082,825 (GRCm39)		probably null	Het
Tdpoz1	T	A	3: 93,577,974 (GRCm39)	Y270F	possibly damaging	Het
Thap3	T	A	4: 152,070,109 (GRCm39)		probably benign	Het
Tmem45a	T	A	16: 56,646,074 (GRCm39)		probably null	Het
Trim43a	A	T	9: 88,464,229 (GRCm39)	I47F	probably damaging	Het
Vps13b	A	T	15: 35,770,688 (GRCm39)	I2044L	probably benign	Het
Zfp735	G	A	11: 73,601,419 (GRCm39)	W121*	probably null	Het
Zmym2	A	G	14: 57,193,712 (GRCm39)	K1176E	possibly damaging	Het

Other mutations in 5730455P16Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00516:5730455P16Rik	APN	11	80,267,638 (GRCm39)	missense	possibly damaging	0.90
IGL03096:5730455P16Rik	APN	11	80,265,005 (GRCm39)	missense	probably damaging	1.00
PIT4431001:5730455P16Rik	UTSW	11	80,254,750 (GRCm39)	missense	probably damaging	1.00
R0383:5730455P16Rik	UTSW	11	80,254,767 (GRCm39)	nonsense	probably null
R0635:5730455P16Rik	UTSW	11	80,264,891 (GRCm39)	splice site	probably benign
R1376:5730455P16Rik	UTSW	11	80,254,735 (GRCm39)	missense	possibly damaging	0.90
R1376:5730455P16Rik	UTSW	11	80,254,735 (GRCm39)	missense	possibly damaging	0.90
R1598:5730455P16Rik	UTSW	11	80,254,838 (GRCm39)	nonsense	probably null
R1953:5730455P16Rik	UTSW	11	80,268,772 (GRCm39)	missense	probably damaging	1.00
R3236:5730455P16Rik	UTSW	11	80,258,996 (GRCm39)	missense	probably damaging	1.00
R4056:5730455P16Rik	UTSW	11	80,266,329 (GRCm39)	splice site	probably benign
R4612:5730455P16Rik	UTSW	11	80,268,806 (GRCm39)	start codon destroyed	probably null	0.90
R4777:5730455P16Rik	UTSW	11	80,265,041 (GRCm39)	missense	probably damaging	1.00
R4820:5730455P16Rik	UTSW	11	80,266,346 (GRCm39)	missense	possibly damaging	0.63
R4847:5730455P16Rik	UTSW	11	80,264,940 (GRCm39)	missense	probably damaging	1.00
R7125:5730455P16Rik	UTSW	11	80,255,751 (GRCm39)	missense	probably damaging	0.97
R8049:5730455P16Rik	UTSW	11	80,268,798 (GRCm39)	missense	possibly damaging	0.86
R9600:5730455P16Rik	UTSW	11	80,261,197 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCAAGAGGACAGTGGCTTG -3'
(R):5'- GTTTCCAAGTCCAGGATTCGGG -3'

Sequencing Primer
(F):5'- ATCGGGCCAGAGACCTTG -3'
(R):5'- TCCAGGATTCGGGAGGCG -3'

Posted On

2016-10-05