Mutagenetix > Incidental Mutation

Incidental Mutation 'R8894:4931429L15Rik'

677891

Institutional Source

Beutler Lab

Gene Symbol

4931429L15Rik

Ensembl Gene

ENSMUSG00000056617

Gene Name

RIKEN cDNA 4931429L15 gene

Synonyms

MMRRC Submission

068697-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8894 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

46214659-46231284 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 46216397 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 291 (V291M)

Ref Sequence

ENSEMBL: ENSMUSP00000124991 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000159565] [ENSMUST00000172280]

AlphaFold

E9PVU2

Predicted Effect

probably benign
Transcript: ENSMUST00000159565
AA Change: V291M

PolyPhen 2 Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000124991
Gene: ENSMUSG00000056617
AA Change: V291M

Domain	Start	End	E-Value	Type
low complexity region	80	87	N/A	INTRINSIC
low complexity region	259	272	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000172280
AA Change: V291M

PolyPhen 2 Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000128017
Gene: ENSMUSG00000056617
AA Change: V291M

Domain	Start	End	E-Value	Type
low complexity region	80	87	N/A	INTRINSIC
low complexity region	259	272	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (63/64)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	C	7: 119,847,368 (GRCm39)	Y744S	probably damaging	Het
Acly	T	C	11: 100,407,639 (GRCm39)	E237G	probably benign	Het
Adcy1	T	A	11: 7,087,375 (GRCm39)	D416E	probably damaging	Het
Arid1b	T	A	17: 5,377,668 (GRCm39)	M1217K	probably damaging	Het
Atad2b	T	C	12: 5,064,001 (GRCm39)		probably null	Het
Ccdc177	A	G	12: 80,806,077 (GRCm39)	S66P	probably damaging	Het
Clpsl2	T	C	17: 28,769,645 (GRCm39)	C36R	possibly damaging	Het
Cramp1	C	T	17: 25,202,114 (GRCm39)	G456D	probably damaging	Het
Crb1	T	A	1: 139,175,750 (GRCm39)	L744F	possibly damaging	Het
Crybg3	T	A	16: 59,342,552 (GRCm39)	E980D	probably damaging	Het
Cyp2d11	A	T	15: 82,274,671 (GRCm39)	V302E	probably benign	Het
Cyp3a25	A	C	5: 145,931,670 (GRCm39)		probably benign	Het
Dhx35	G	C	2: 158,676,795 (GRCm39)	A410P	possibly damaging	Het
Dlg2	A	T	7: 91,614,946 (GRCm39)	H295L	probably benign	Het
Dnah2	T	A	11: 69,383,048 (GRCm39)	M1172L	probably benign	Het
Dock9	T	C	14: 121,860,373 (GRCm39)	S850G	probably benign	Het
Dst	A	T	1: 34,213,214 (GRCm39)	M1369L	possibly damaging	Het
Fcrl6	T	C	1: 172,426,856 (GRCm39)	N30S	probably benign	Het
Fibp	A	T	19: 5,513,309 (GRCm39)	Q208L	probably benign	Het
Foxc1	T	G	13: 31,992,205 (GRCm39)	S339A	unknown	Het
Fras1	T	C	5: 96,907,402 (GRCm39)	C3196R	probably damaging	Het
Galnt7	C	T	8: 57,979,176 (GRCm39)	W649*	probably null	Het
H2-M10.2	T	C	17: 36,595,555 (GRCm39)	N245S	possibly damaging	Het
Hapln3	G	A	7: 78,767,239 (GRCm39)	R267W	probably benign	Het
Hkdc1	T	C	10: 62,244,400 (GRCm39)	I229V	probably damaging	Het
Kank1	G	A	19: 25,408,378 (GRCm39)	G1286R	probably damaging	Het
Krba1	A	G	6: 48,388,629 (GRCm39)	I543V	probably damaging	Het
Lipn	A	T	19: 34,062,248 (GRCm39)	*401L	probably null	Het
Lrrc37a	T	C	11: 103,347,449 (GRCm39)	N3082S	unknown	Het
Magi1	A	T	6: 93,663,586 (GRCm39)	F1117Y	probably benign	Het
Man2a1	A	G	17: 65,020,596 (GRCm39)	K791E	probably benign	Het
Mindy4	T	C	6: 55,255,223 (GRCm39)	L567P	probably benign	Het
Mpp4	A	G	1: 59,197,743 (GRCm39)		probably null	Het
Muc2	T	G	7: 141,280,758 (GRCm39)	C371W	probably damaging	Het
Nebl	A	T	2: 17,380,036 (GRCm39)	N779K	probably benign	Het
Nf1	T	C	11: 79,336,619 (GRCm39)	L1066P	probably damaging	Het
Npat	T	C	9: 53,467,951 (GRCm39)	L302P	probably damaging	Het
Nudt21	C	A	8: 94,755,498 (GRCm39)	G146W	probably damaging	Het
Or10al6	T	A	17: 38,082,940 (GRCm39)	I132K	probably damaging	Het
Or10g1	A	T	14: 52,647,465 (GRCm39)	L288Q	probably damaging	Het
Or4c11c	T	G	2: 88,661,809 (GRCm39)	M116R	probably benign	Het
Or8c13	A	T	9: 38,091,370 (GRCm39)	F250I	probably damaging	Het
Pkd2l2	T	C	18: 34,571,273 (GRCm39)		probably benign	Het
Plcd3	T	A	11: 102,962,592 (GRCm39)	N620Y	probably damaging	Het
Ppl	T	C	16: 4,925,206 (GRCm39)		probably benign	Het
Pramel41	T	G	5: 94,596,399 (GRCm39)	C479G	probably damaging	Het
Prep	T	C	10: 45,034,620 (GRCm39)	*711Q	probably null	Het
Psap	T	A	10: 60,135,736 (GRCm39)	V394E	possibly damaging	Het
Ptprr	T	A	10: 115,884,250 (GRCm39)	D102E	probably benign	Het
Rgsl1	T	A	1: 153,698,119 (GRCm39)		probably null	Het
Rimbp2	T	A	5: 128,850,454 (GRCm39)	D943V	possibly damaging	Het
Rsrc2	G	T	5: 123,878,793 (GRCm39)	R113S	unknown	Het
Sim1	T	A	10: 50,786,626 (GRCm39)	V286E	possibly damaging	Het
Slc35d1	A	T	4: 103,068,529 (GRCm39)	F124L		Het
Sort1	T	C	3: 108,246,228 (GRCm39)	F402L	probably damaging	Het
Spata31f1a	A	G	4: 42,853,688 (GRCm39)	C47R	possibly damaging	Het
Tlr2	T	A	3: 83,744,091 (GRCm39)	E664V	probably damaging	Het
Tmppe	A	T	9: 114,230,260 (GRCm39)		probably benign	Het
Tnfrsf8	T	C	4: 145,001,038 (GRCm39)	D356G	possibly damaging	Het
Tnrc18	T	C	5: 142,725,212 (GRCm39)	E1839G	unknown	Het
Trgv4	T	C	13: 19,369,627 (GRCm39)	S124P	probably damaging	Het
Trim17	T	A	11: 58,859,536 (GRCm39)	M250K	probably benign	Het
Trim33	C	T	3: 103,218,807 (GRCm39)	L315F	probably damaging	Het
Vmn1r43	A	G	6: 89,846,746 (GRCm39)	S247P	probably benign	Het
Vmn2r33	T	A	7: 7,566,809 (GRCm39)	Y101F	probably benign	Het
Vmn2r40	T	C	7: 8,923,197 (GRCm39)	D388G		Het
Wdr36	C	T	18: 32,970,340 (GRCm39)		probably benign	Het
Zfp2	T	A	11: 50,791,843 (GRCm39)	I67F	possibly damaging	Het

Other mutations in 4931429L15Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00909:4931429L15Rik	APN	9	46,220,250 (GRCm39)	missense	possibly damaging	0.95
IGL01649:4931429L15Rik	APN	9	46,217,116 (GRCm39)	missense	probably benign	0.00
R0094:4931429L15Rik	UTSW	9	46,218,184 (GRCm39)	missense	possibly damaging	0.94
R0094:4931429L15Rik	UTSW	9	46,218,184 (GRCm39)	missense	possibly damaging	0.94
R1496:4931429L15Rik	UTSW	9	46,221,552 (GRCm39)	unclassified	probably benign
R1971:4931429L15Rik	UTSW	9	46,220,086 (GRCm39)	missense	probably benign	0.00
R2139:4931429L15Rik	UTSW	9	46,215,593 (GRCm39)	missense	probably damaging	0.96
R4078:4931429L15Rik	UTSW	9	46,215,359 (GRCm39)	nonsense	probably null
R4780:4931429L15Rik	UTSW	9	46,220,144 (GRCm39)	missense	possibly damaging	0.90
R5088:4931429L15Rik	UTSW	9	46,217,038 (GRCm39)	missense	probably benign	0.00
R5138:4931429L15Rik	UTSW	9	46,218,119 (GRCm39)	critical splice donor site	probably null
R5419:4931429L15Rik	UTSW	9	46,220,624 (GRCm39)	critical splice donor site	probably null
R5734:4931429L15Rik	UTSW	9	46,215,303 (GRCm39)	unclassified	probably benign
R5739:4931429L15Rik	UTSW	9	46,220,717 (GRCm39)	missense	probably benign	0.27
R5907:4931429L15Rik	UTSW	9	46,218,120 (GRCm39)	missense	probably damaging	0.97
R6127:4931429L15Rik	UTSW	9	46,220,220 (GRCm39)	missense	probably damaging	1.00
R6564:4931429L15Rik	UTSW	9	46,218,202 (GRCm39)	missense	probably damaging	0.99
R7556:4931429L15Rik	UTSW	9	46,221,611 (GRCm39)	nonsense	probably null
R7818:4931429L15Rik	UTSW	9	46,215,519 (GRCm39)	missense	probably benign	0.01
R8962:4931429L15Rik	UTSW	9	46,220,173 (GRCm39)	missense	probably benign	0.01
X0024:4931429L15Rik	UTSW	9	46,220,267 (GRCm39)	small deletion	probably benign
Z1177:4931429L15Rik	UTSW	9	46,217,136 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

Posted On

2021-08-02