Mutagenetix > Incidental Mutation

Incidental Mutation 'R8062:Gm3604'

619812

Institutional Source

Beutler Lab

Gene Symbol

Gm3604

Ensembl Gene

ENSMUSG00000094942

Gene Name

predicted gene 3604

Synonyms

MMRRC Submission

067498-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.135) question?

Stock #

R8062 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

62516142-62530991 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62518155 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 68 (S68G)

Ref Sequence

ENSEMBL: ENSMUSP00000139845 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107989] [ENSMUST00000187656] [ENSMUST00000202194]

AlphaFold

A0A087WPN2

Predicted Effect

probably damaging
Transcript: ENSMUST00000107989
AA Change: S67G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103623
Gene: ENSMUSG00000094942
AA Change: S67G

Domain	Start	End	E-Value	Type
KRAB	3	65	4.49e-17	SMART
ZnF_C2H2	132	154	2.71e-2	SMART
ZnF_C2H2	160	182	1.3e-4	SMART
ZnF_C2H2	188	210	5.21e-4	SMART
ZnF_C2H2	216	238	1.82e-3	SMART
ZnF_C2H2	244	266	7.78e-3	SMART
ZnF_C2H2	272	294	3.69e-4	SMART
ZnF_C2H2	300	322	3.95e-4	SMART
ZnF_C2H2	328	350	9.08e-4	SMART
ZnF_C2H2	356	378	1.45e-2	SMART
ZnF_C2H2	384	406	1.92e-2	SMART
ZnF_C2H2	412	434	1.3e-4	SMART
ZnF_C2H2	440	462	4.87e-4	SMART
ZnF_C2H2	468	490	1.4e-4	SMART
ZnF_C2H2	496	518	3.95e-4	SMART
ZnF_C2H2	524	546	2.29e1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000187656
AA Change: S68G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000139845
Gene: ENSMUSG00000094942
AA Change: S68G

Domain	Start	End	E-Value	Type
KRAB	4	66	1.9e-19	SMART
ZnF_C2H2	133	155	1.2e-4	SMART
ZnF_C2H2	161	183	5.5e-7	SMART
ZnF_C2H2	189	211	2.3e-6	SMART
ZnF_C2H2	217	239	7.5e-6	SMART
ZnF_C2H2	245	267	3.4e-5	SMART
ZnF_C2H2	273	295	1.5e-6	SMART
ZnF_C2H2	301	323	1.7e-6	SMART
ZnF_C2H2	329	351	3.7e-6	SMART
ZnF_C2H2	357	379	6.3e-5	SMART
ZnF_C2H2	385	407	7.8e-5	SMART
ZnF_C2H2	413	435	5.5e-7	SMART
ZnF_C2H2	441	463	2e-6	SMART
ZnF_C2H2	469	491	5.8e-7	SMART
ZnF_C2H2	497	519	1.6e-6	SMART
ZnF_C2H2	525	547	9.6e-2	SMART

Predicted Effect

silent
Transcript: ENSMUST00000202194

SMART Domains

Protein: ENSMUSP00000144048
Gene: ENSMUSG00000094942

Domain	Start	End	E-Value	Type
KRAB	4	65	1.2e-19	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abce1	A	T	8: 80,427,773 (GRCm39)	Y172N	possibly damaging	Het
Abhd2	T	A	7: 78,975,338 (GRCm39)	M176K	possibly damaging	Het
Adamts14	A	G	10: 61,036,140 (GRCm39)		probably null	Het
Atg2a	T	C	19: 6,302,609 (GRCm39)		probably null	Het
Bach2	G	A	4: 32,562,937 (GRCm39)	G468E	probably damaging	Het
Bap1	T	A	14: 30,979,465 (GRCm39)	N489K	probably benign	Het
Btaf1	G	A	19: 36,969,865 (GRCm39)	V1180I	probably benign	Het
Calm5	A	G	13: 3,904,405 (GRCm39)	H33R	probably benign	Het
Cby2	A	T	14: 75,830,046 (GRCm39)	I49N	probably benign	Het
Cnr1	T	A	4: 33,944,707 (GRCm39)	V365E	possibly damaging	Het
Crym	A	C	7: 119,800,391 (GRCm39)	V77G	probably damaging	Het
Cyp2j7	T	A	4: 96,103,587 (GRCm39)	E316V	probably null	Het
Dab2	G	A	15: 6,456,822 (GRCm39)	G233D	probably damaging	Het
Ddx19b	A	T	8: 111,747,611 (GRCm39)	S108T	probably benign	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Duxf1	G	A	10: 58,059,632 (GRCm39)	A374V	unknown	Het
Duxf3	A	C	10: 58,066,750 (GRCm39)	M93R	probably benign	Het
Duxf3	G	A	10: 58,066,889 (GRCm39)	L537F	probably damaging	Het
Eif2s2	A	G	2: 154,719,724 (GRCm39)	F182L	possibly damaging	Het
Erlin1	T	A	19: 44,044,598 (GRCm39)	K156I	probably benign	Het
Gapvd1	A	G	2: 34,568,126 (GRCm39)	S1413P	probably benign	Het
Gm1110	G	A	9: 26,793,117 (GRCm39)	A553V	probably damaging	Het
Gm3250	C	A	10: 77,618,234 (GRCm39)	C48F	unknown	Het
Golga5	T	A	12: 102,450,739 (GRCm39)	M464K	probably benign	Het
Gpr142	G	A	11: 114,697,357 (GRCm39)	R301Q	probably benign	Het
Gria4	C	T	9: 4,480,273 (GRCm39)	D392N	possibly damaging	Het
Grik2	T	A	10: 49,116,863 (GRCm39)	T633S	probably damaging	Het
Gsap	T	A	5: 21,399,461 (GRCm39)	I54N	probably damaging	Het
Hdlbp	A	G	1: 93,366,064 (GRCm39)	Y40H	probably benign	Het
Hyal5	C	A	6: 24,876,196 (GRCm39)	T23K	possibly damaging	Het
Iqank1	G	A	15: 75,918,603 (GRCm39)	R508H	probably benign	Het
Itga6	T	A	2: 71,672,087 (GRCm39)	F834L	probably benign	Het
Klf1	T	A	8: 85,629,928 (GRCm39)	L251Q	probably benign	Het
Kndc1	A	G	7: 139,498,760 (GRCm39)	D558G	probably benign	Het
Ktn1	T	A	14: 47,962,429 (GRCm39)		probably null	Het
Lcmt2	A	G	2: 120,970,753 (GRCm39)	V110A	possibly damaging	Het
Lgr4	C	T	2: 109,831,282 (GRCm39)	R304C	probably damaging	Het
Lnpk	T	A	2: 74,381,407 (GRCm39)	I119L	possibly damaging	Het
Med13	A	G	11: 86,210,264 (GRCm39)	V626A	probably benign	Het
Mroh9	A	T	1: 162,866,544 (GRCm39)	L700M	probably damaging	Het
Muc4	T	A	16: 32,577,123 (GRCm39)	W138R		Het
Myh2	G	T	11: 67,084,209 (GRCm39)	E1611*	probably null	Het
Myo9b	T	G	8: 71,774,457 (GRCm39)	S323A	probably damaging	Het
Or2n1c	A	T	17: 38,520,065 (GRCm39)	I310F	probably benign	Het
Or4c52	T	A	2: 89,846,080 (GRCm39)	F269I	possibly damaging	Het
Or5t7	A	C	2: 86,507,410 (GRCm39)	V89G	probably benign	Het
Or8b101	G	T	9: 38,020,213 (GRCm39)	C72F	probably damaging	Het
P2ry13	A	T	3: 59,117,703 (GRCm39)	M25K	probably benign	Het
Pan3	T	A	5: 147,463,960 (GRCm39)	F571Y	probably benign	Het
Pdcd11	A	G	19: 47,119,152 (GRCm39)	D1831G	possibly damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pex1	T	G	5: 3,655,656 (GRCm39)	M161R	probably benign	Het
Piezo2	T	A	18: 63,163,537 (GRCm39)	D2127V	possibly damaging	Het
Plod3	A	T	5: 137,019,123 (GRCm39)	H336L	possibly damaging	Het
Pp2d1	A	T	17: 53,822,798 (GRCm39)	N89K	probably benign	Het
Ppp4r3a	A	G	12: 101,008,230 (GRCm39)	S736P	probably damaging	Het
Prp2	C	A	6: 132,577,651 (GRCm39)	Q313K	unknown	Het
Psma5	T	G	3: 108,173,795 (GRCm39)	D90E	probably benign	Het
Reln	G	A	5: 22,176,990 (GRCm39)	T1892I	probably benign	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Rsf1	T	G	7: 97,326,594 (GRCm39)	D1039E		Het
Rtel1	A	G	2: 180,982,360 (GRCm39)	D370G	probably benign	Het
Scyl2	T	A	10: 89,490,022 (GRCm39)	N447Y	probably damaging	Het
Sis	A	T	3: 72,828,321 (GRCm39)	Y1222*	probably null	Het
Slc37a3	A	T	6: 39,341,530 (GRCm39)	H35Q	probably damaging	Het
Sltm	A	T	9: 70,480,779 (GRCm39)	K210N	unknown	Het
Spata3	T	C	1: 85,952,148 (GRCm39)	I134T	unknown	Het
Speer4d	A	T	5: 15,825,437 (GRCm39)	N54I	possibly damaging	Het
Syne1	A	G	10: 5,135,394 (GRCm39)		probably null	Het
Tars1	A	T	15: 11,388,400 (GRCm39)	F465Y	possibly damaging	Het
Tlr4	T	G	4: 66,758,087 (GRCm39)	N293K	probably benign	Het
Tmprss13	C	A	9: 45,239,986 (GRCm39)	T98K	unknown	Het
Tnfsf8	G	A	4: 63,779,432 (GRCm39)		probably benign	Het
Trim30b	T	A	7: 104,015,393 (GRCm39)		probably benign	Het
Trpm1	A	G	7: 63,851,689 (GRCm39)	K136E	probably benign	Het
Ttc6	A	G	12: 57,783,764 (GRCm39)	Y1741C	possibly damaging	Het
Usp38	T	C	8: 81,711,218 (GRCm39)	D939G	probably damaging	Het
Vmn1r196	T	A	13: 22,477,440 (GRCm39)	N26K	probably damaging	Het
Vmn2r50	C	A	7: 9,774,240 (GRCm39)		probably null	Het
Wdr3	T	A	3: 100,049,810 (GRCm39)	M773L	probably benign	Het
Zfp993	T	G	4: 146,739,415 (GRCm39)		probably null	Het

Other mutations in Gm3604

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01869:Gm3604	APN	13	62,517,954 (GRCm39)	missense	probably damaging	1.00
IGL02601:Gm3604	APN	13	62,517,990 (GRCm39)	missense	possibly damaging	0.79
IGL03386:Gm3604	APN	13	62,517,981 (GRCm39)	missense	possibly damaging	0.95
R1539:Gm3604	UTSW	13	62,519,414 (GRCm39)	missense	possibly damaging	0.70
R1771:Gm3604	UTSW	13	62,517,888 (GRCm39)	nonsense	probably null
R1776:Gm3604	UTSW	13	62,517,888 (GRCm39)	nonsense	probably null
R1919:Gm3604	UTSW	13	62,517,756 (GRCm39)	missense	probably benign	0.02
R1954:Gm3604	UTSW	13	62,517,025 (GRCm39)	missense	probably damaging	0.97
R2093:Gm3604	UTSW	13	62,517,420 (GRCm39)	missense	possibly damaging	0.50
R2291:Gm3604	UTSW	13	62,519,657 (GRCm39)	missense	probably damaging	0.99
R2909:Gm3604	UTSW	13	62,516,832 (GRCm39)	missense	probably benign	0.43
R3195:Gm3604	UTSW	13	62,517,868 (GRCm39)	nonsense	probably null
R3196:Gm3604	UTSW	13	62,517,868 (GRCm39)	nonsense	probably null
R3924:Gm3604	UTSW	13	62,518,044 (GRCm39)	missense	probably damaging	0.99
R4328:Gm3604	UTSW	13	62,517,079 (GRCm39)	missense	possibly damaging	0.88
R4543:Gm3604	UTSW	13	62,517,970 (GRCm39)	missense	probably benign
R4830:Gm3604	UTSW	13	62,516,857 (GRCm39)	missense	probably damaging	0.98
R5129:Gm3604	UTSW	13	62,517,588 (GRCm39)	missense	probably benign	0.00
R5496:Gm3604	UTSW	13	62,519,393 (GRCm39)	missense	possibly damaging	0.85
R6184:Gm3604	UTSW	13	62,519,659 (GRCm39)	missense	probably damaging	1.00
R6426:Gm3604	UTSW	13	62,517,436 (GRCm39)	missense	probably damaging	1.00
R6925:Gm3604	UTSW	13	62,517,204 (GRCm39)	missense	probably benign	0.16
R7080:Gm3604	UTSW	13	62,518,109 (GRCm39)	missense	probably damaging	1.00
R7182:Gm3604	UTSW	13	62,519,689 (GRCm39)	missense	probably damaging	0.99
R7572:Gm3604	UTSW	13	62,518,060 (GRCm39)	missense	probably damaging	1.00
R7750:Gm3604	UTSW	13	62,517,810 (GRCm39)	missense	possibly damaging	0.92
R7960:Gm3604	UTSW	13	62,517,587 (GRCm39)	missense	probably damaging	0.97
R8023:Gm3604	UTSW	13	62,517,683 (GRCm39)	missense	probably damaging	1.00
R8093:Gm3604	UTSW	13	62,517,363 (GRCm39)	missense	probably damaging	0.99
R8532:Gm3604	UTSW	13	62,516,769 (GRCm39)	missense	possibly damaging	0.57
R9262:Gm3604	UTSW	13	62,517,697 (GRCm39)	missense	probably damaging	0.99
R9659:Gm3604	UTSW	13	62,519,724 (GRCm39)	missense	possibly damaging	0.93
R9673:Gm3604	UTSW	13	62,517,969 (GRCm39)	missense	probably benign	0.00
R9788:Gm3604	UTSW	13	62,519,724 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- ATTCATAGGGCTTCTGTCCAG -3'
(R):5'- TCTCAGGTGTCTCTAACCATGAGA -3'

Sequencing Primer
(F):5'- CATAGGGCTTCTGTCCAGTTTGTG -3'
(R):5'- GAAGGTCCTGAGTTCAAATCTCAGC -3'

Posted On

2020-01-23