Mutagenetix > Incidental Mutation

Incidental Mutation 'R9659:Gm3604'

727467

Institutional Source

Beutler Lab

Gene Symbol

Gm3604

Ensembl Gene

ENSMUSG00000094942

Gene Name

predicted gene 3604

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.128) question?

Stock #

R9659 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

62516142-62530991 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 62519724 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 10 (H10Q)

Ref Sequence

ENSEMBL: ENSMUSP00000139845 (fasta)

Gene Model

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

AlphaFold

A0A087WPN2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107989
AA Change: H9Q

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103623
Gene: ENSMUSG00000094942
AA Change: H9Q

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

possibly damaging
Transcript: ENSMUST00000187656
AA Change: H10Q

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000139845
Gene: ENSMUSG00000094942
AA Change: H10Q

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

possibly damaging
Transcript: ENSMUST00000202194
AA Change: H10Q

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000144048
Gene: ENSMUSG00000094942
AA Change: H10Q

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A330070K13Rik	T	C	5: 130,407,876 (GRCm39)	I112V	unknown	Het
Adcy7	A	G	8: 89,045,733 (GRCm39)	T572A	probably benign	Het
Atad5	G	T	11: 79,980,542 (GRCm39)		probably benign	Het
C2cd2	A	G	16: 97,723,473 (GRCm39)	S15P	possibly damaging	Het
Cabp1	T	C	5: 115,311,187 (GRCm39)	D289G	possibly damaging	Het
Ccdc14	A	G	16: 34,541,913 (GRCm39)	I545V	probably damaging	Het
Cep295	C	A	9: 15,233,846 (GRCm39)	A2317S	probably benign	Het
Cerkl	T	C	2: 79,223,322 (GRCm39)	D133G	possibly damaging	Het
Cited4	T	G	4: 120,524,543 (GRCm39)	C182G	probably damaging	Het
Col6a5	T	A	9: 105,811,034 (GRCm39)	K828N	unknown	Het
Ear2	A	G	14: 44,340,705 (GRCm39)	Y121C	probably damaging	Het
Ect2l	C	T	10: 18,041,347 (GRCm39)	C369Y	possibly damaging	Het
Elapor1	G	A	3: 108,377,297 (GRCm39)	T387I	possibly damaging	Het
Ep300	A	G	15: 81,505,273 (GRCm39)	Y631C	unknown	Het
Ephb4	T	G	5: 137,363,743 (GRCm39)	Y583D	probably damaging	Het
Fbn2	C	G	18: 58,342,654 (GRCm39)	R75P	probably damaging	Het
Gabra2	T	C	5: 71,192,140 (GRCm39)	D63G	probably benign	Het
Gfra1	A	G	19: 58,441,652 (GRCm39)	M93T	probably damaging	Het
Gm21886	AGAGGCCTGCAGACAGTAGGTGCTCACTAGGGCCTGCAGACAGCAGGTGCTCACTGAGGCCTG	AGAGGCCTG	18: 80,132,776 (GRCm39)		probably benign	Het
Helz2	T	C	2: 180,882,025 (GRCm39)	D256G	probably benign	Het
Herc1	A	C	9: 66,307,185 (GRCm39)	I1002L	probably benign	Het
Hpgd	C	G	8: 56,772,075 (GRCm39)	C182W	probably damaging	Het
Htr5b	A	G	1: 121,455,428 (GRCm39)	L164P	possibly damaging	Het
Kmo	T	C	1: 175,486,085 (GRCm39)	F403L	probably damaging	Het
Ly75	C	A	2: 60,168,665 (GRCm39)	D748Y	probably damaging	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Mipep	A	G	14: 61,083,893 (GRCm39)	T595A	probably damaging	Het
Muc6	T	C	7: 141,232,100 (GRCm39)	D968G	probably damaging	Het
Myo18b	T	C	5: 113,022,382 (GRCm39)	T337A	unknown	Het
Nlrp1b	T	A	11: 71,073,132 (GRCm39)	Q237L	possibly damaging	Het
Nr1h4	A	G	10: 89,314,638 (GRCm39)		probably null	Het
Nxph1	A	G	6: 9,247,418 (GRCm39)	T130A	probably damaging	Het
Or10al6	T	G	17: 38,082,880 (GRCm39)	F112C	probably damaging	Het
Or1l4	T	A	2: 37,091,897 (GRCm39)	C215S	possibly damaging	Het
Or4m1	A	G	14: 50,558,181 (GRCm39)	F37S	probably benign	Het
Or5p4	T	C	7: 107,680,745 (GRCm39)	V248A	probably damaging	Het
Or8g21	A	G	9: 38,906,296 (GRCm39)	V145A	possibly damaging	Het
Pcsk5	A	G	19: 17,455,245 (GRCm39)	Y1062H	probably benign	Het
Plch1	T	C	3: 63,681,136 (GRCm39)	I164V	probably benign	Het
Plekhh2	T	A	17: 84,854,892 (GRCm39)	M42K	possibly damaging	Het
Polr2a	T	C	11: 69,625,654 (GRCm39)	Y1832C	unknown	Het
Prpf4	G	A	4: 62,334,296 (GRCm39)		probably null	Het
Psg16	T	C	7: 16,824,524 (GRCm39)	S12P	possibly damaging	Het
Ptpn14	T	A	1: 189,587,174 (GRCm39)	M528K	probably benign	Het
Rb1cc1	T	A	1: 6,318,673 (GRCm39)	H697Q	probably benign	Het
Reg3a	T	G	6: 78,360,574 (GRCm39)	C171G	possibly damaging	Het
Slc22a26	G	A	19: 7,763,798 (GRCm39)	P412S	probably benign	Het
Spata31e5	G	T	1: 28,816,536 (GRCm39)	H499N	probably benign	Het
Tcstv2a	T	A	13: 120,725,754 (GRCm39)	D139E	probably damaging	Het
Tlk2	T	C	11: 105,131,263 (GRCm39)	I203T	probably benign	Het
Tmem120b	T	G	5: 123,253,788 (GRCm39)	H279Q	probably damaging	Het
Trip4	T	C	9: 65,740,702 (GRCm39)	E535G	probably benign	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Ubr5	A	T	15: 37,984,254 (GRCm39)	L2298I		Het
Utp20	A	G	10: 88,653,171 (GRCm39)	L303P	probably damaging	Het
Vcan	A	G	13: 89,839,860 (GRCm39)	Y1895H	probably damaging	Het
Vmn2r2	T	C	3: 64,041,942 (GRCm39)	N258D	possibly damaging	Het
Wdr20rt	A	T	12: 65,273,343 (GRCm39)	S269C	probably damaging	Het
Zfand4	T	G	6: 116,282,588 (GRCm39)	Y54D	probably damaging	Het
Zfp82	C	T	7: 29,755,963 (GRCm39)	R373H	probably damaging	Het
Zmiz2	A	G	11: 6,346,814 (GRCm39)	E141G	probably benign	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
R8062:Gm3604	UTSW	13	62,518,155 (GRCm39)	missense	probably damaging	0.98
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
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'- TCAGTGAACCTTATAGTCATGCAT -3'
(R):5'- GATTGTTCTTGCAGAGGTCCTGAG -3'

Sequencing Primer
(F):5'- cctatagcattgaggttcct -3'
(R):5'- TGTAATAGGGATCCAATGCCCTC -3'

Posted On

2022-10-06