Mutagenetix > Incidental Mutation

Incidental Mutation 'R0124:Gm14412'

257997

Institutional Source

Beutler Lab

Gene Symbol

Gm14412

Ensembl Gene

ENSMUSG00000078868

Gene Name

predicted gene 14412

Synonyms

MMRRC Submission

038409-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.634) question?

Stock #

R0124 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

177006313-177016100 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 177007705 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000104587 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108959]

AlphaFold

A2ARR7

Predicted Effect

probably benign
Transcript: ENSMUST00000108959

SMART Domains

Protein: ENSMUSP00000104587
Gene: ENSMUSG00000078868

Domain	Start	End	E-Value	Type
KRAB	4	66	1.54e-15	SMART
ZnF_C2H2	103	125	1.12e-3	SMART
ZnF_C2H2	131	153	2.15e-5	SMART
ZnF_C2H2	159	181	5.59e-4	SMART
ZnF_C2H2	187	209	1.98e-4	SMART
ZnF_C2H2	215	237	1.12e-3	SMART
ZnF_C2H2	243	265	6.52e-5	SMART
ZnF_C2H2	271	293	1.12e-3	SMART
ZnF_C2H2	299	321	5.59e-4	SMART
ZnF_C2H2	327	349	4.87e-4	SMART
ZnF_C2H2	355	377	2.61e-4	SMART
ZnF_C2H2	383	405	9.08e-4	SMART
ZnF_C2H2	411	433	4.87e-4	SMART
ZnF_C2H2	439	461	6.88e-4	SMART
ZnF_C2H2	467	489	4.61e-5	SMART
ZnF_C2H2	495	517	8.02e-5	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.3%
10x: 95.7%
20x: 89.8%

Validation Efficiency

100% (67/67)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	A	G	6: 83,138,656 (GRCm39)	T194A	probably benign	Het
Afap1	C	T	5: 36,102,553 (GRCm39)	P82S	probably damaging	Het
Ankrd28	A	G	14: 31,449,698 (GRCm39)	Y481H	probably damaging	Het
Arid1b	C	T	17: 5,389,605 (GRCm39)	T1717I	probably damaging	Het
Atad2b	A	G	12: 5,002,676 (GRCm39)	K348R	probably benign	Het
Bcl3	C	T	7: 19,543,576 (GRCm39)	V5M	probably damaging	Het
C2cd3	A	G	7: 100,118,725 (GRCm39)	E2321G	probably benign	Het
Casq1	C	T	1: 172,037,992 (GRCm39)	V380M	probably damaging	Het
Cd209e	T	A	8: 3,901,274 (GRCm39)	T127S	probably benign	Het
Cdh23	G	T	10: 60,143,835 (GRCm39)	Y2921*	probably null	Het
Cdh6	A	G	15: 13,034,410 (GRCm39)	L750P	probably damaging	Het
Cdk12	T	C	11: 98,102,073 (GRCm39)		probably benign	Het
Ces5a	T	C	8: 94,255,183 (GRCm39)	E170G	probably damaging	Het
Clec4f	A	G	6: 83,629,335 (GRCm39)		probably null	Het
Col19a1	T	C	1: 24,565,539 (GRCm39)	N264S	unknown	Het
Col2a1	T	A	15: 97,896,743 (GRCm39)	I43F	unknown	Het
Col4a2	A	G	8: 11,458,871 (GRCm39)		probably benign	Het
Csmd3	T	A	15: 47,454,112 (GRCm39)	D3578V	probably damaging	Het
Cyp2c37	T	C	19: 39,982,546 (GRCm39)	L128P	probably damaging	Het
Dennd2b	A	G	7: 109,141,718 (GRCm39)	S132P	possibly damaging	Het
Dysf	A	G	6: 84,042,084 (GRCm39)		probably benign	Het
Eml1	T	C	12: 108,472,867 (GRCm39)	V225A	probably benign	Het
Eml1	A	G	12: 108,475,437 (GRCm39)	Y256C	probably damaging	Het
Epb41l5	T	A	1: 119,561,370 (GRCm39)	K64*	probably null	Het
Fat2	A	G	11: 55,174,504 (GRCm39)	F2070L	probably damaging	Het
Fbxw18	G	T	9: 109,520,583 (GRCm39)	H259N	probably benign	Het
Gm10764	A	T	10: 87,126,610 (GRCm39)	T6S	unknown	Het
Heatr5b	A	T	17: 79,133,646 (GRCm39)		probably benign	Het
Hid1	T	C	11: 115,247,649 (GRCm39)	T250A	probably damaging	Het
Hnf4g	A	G	3: 3,708,142 (GRCm39)		probably benign	Het
Ifnar1	C	T	16: 91,296,425 (GRCm39)	Q309*	probably null	Het
Lrriq1	C	T	10: 103,006,281 (GRCm39)		probably null	Het
Map3k13	A	G	16: 21,722,506 (GRCm39)	T223A	possibly damaging	Het
Matn2	C	T	15: 34,426,297 (GRCm39)		probably benign	Het
Myo6	A	G	9: 80,215,056 (GRCm39)	E1253G	probably damaging	Het
Nomo1	G	T	7: 45,732,652 (GRCm39)		probably benign	Het
Or1ak2	A	T	2: 36,827,268 (GRCm39)	I46F	possibly damaging	Het
Or4c116	A	T	2: 88,942,088 (GRCm39)	I256K	possibly damaging	Het
Or8a1b	A	G	9: 37,622,759 (GRCm39)	V272A	possibly damaging	Het
Papolg	C	T	11: 23,817,535 (GRCm39)	A582T	probably benign	Het
Plekhm3	C	T	1: 64,960,910 (GRCm39)	E449K	probably damaging	Het
Pole	T	G	5: 110,451,858 (GRCm39)	M900R	probably damaging	Het
Ppp1cb	T	A	5: 32,640,822 (GRCm39)		probably benign	Het
Pramel17	A	G	4: 101,692,570 (GRCm39)	*477Q	probably null	Het
Pros1	A	G	16: 62,734,309 (GRCm39)	T372A	possibly damaging	Het
Scara3	A	T	14: 66,168,670 (GRCm39)	S316T	probably benign	Het
Stau2	C	T	1: 16,533,352 (GRCm39)	A61T	probably damaging	Het
Stx3	T	C	19: 11,769,163 (GRCm39)	E54G	possibly damaging	Het
Sun1	T	C	5: 139,232,434 (GRCm39)		probably benign	Het
Swt1	A	T	1: 151,267,280 (GRCm39)	C634S	probably damaging	Het
Syt6	A	G	3: 103,494,842 (GRCm39)	Y269C	probably damaging	Het
Tfap2a	G	A	13: 40,870,887 (GRCm39)		probably benign	Het
Tmx4	A	T	2: 134,481,640 (GRCm39)		probably null	Het
Ttc39d	T	C	17: 80,524,375 (GRCm39)	C345R	probably damaging	Het
Vmn1r27	T	C	6: 58,192,233 (GRCm39)	Y257C	probably damaging	Het
Vmn2r27	T	A	6: 124,208,578 (GRCm39)	T56S	probably benign	Het
Vps13b	T	C	15: 35,576,674 (GRCm39)		probably null	Het
Wdr17	A	G	8: 55,088,526 (GRCm39)	S1175P	probably damaging	Het
Wsb2	T	C	5: 117,501,823 (GRCm39)	F63L	probably benign	Het
Zfp142	A	G	1: 74,607,782 (GRCm39)	Y1561H	probably damaging	Het

Other mutations in Gm14412

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Gm14412	APN	2	177,007,479 (GRCm39)	missense	probably benign
R0507:Gm14412	UTSW	2	177,006,325 (GRCm39)	missense	possibly damaging	0.46
R1833:Gm14412	UTSW	2	177,007,583 (GRCm39)	missense	probably benign	0.00
R1908:Gm14412	UTSW	2	177,007,630 (GRCm39)	missense	probably benign	0.03
R1908:Gm14412	UTSW	2	177,007,269 (GRCm39)	missense	probably damaging	1.00
R2026:Gm14412	UTSW	2	177,008,898 (GRCm39)	missense	possibly damaging	0.92
R2209:Gm14412	UTSW	2	177,009,229 (GRCm39)	missense	probably damaging	1.00
R2656:Gm14412	UTSW	2	177,006,993 (GRCm39)	missense	unknown
R3946:Gm14412	UTSW	2	177,006,478 (GRCm39)	nonsense	probably null
R4430:Gm14412	UTSW	2	177,007,625 (GRCm39)	missense	probably benign	0.09
R4537:Gm14412	UTSW	2	177,006,352 (GRCm39)	missense	probably benign	0.06
R4595:Gm14412	UTSW	2	177,007,005 (GRCm39)	missense	unknown
R4928:Gm14412	UTSW	2	177,006,373 (GRCm39)	missense	probably benign	0.01
R5100:Gm14412	UTSW	2	177,006,908 (GRCm39)	missense	probably damaging	0.99
R5434:Gm14412	UTSW	2	177,006,405 (GRCm39)	missense	probably damaging	1.00
R5668:Gm14412	UTSW	2	177,007,402 (GRCm39)	nonsense	probably null
R6173:Gm14412	UTSW	2	177,006,330 (GRCm39)	missense	probably damaging	1.00
R6558:Gm14412	UTSW	2	177,006,347 (GRCm39)	missense	probably damaging	0.99
R6784:Gm14412	UTSW	2	177,009,133 (GRCm39)	missense	probably benign	0.10
R7094:Gm14412	UTSW	2	177,009,138 (GRCm39)	missense	probably damaging	1.00
R7182:Gm14412	UTSW	2	177,007,408 (GRCm39)	missense	probably benign	0.44
R7254:Gm14412	UTSW	2	177,009,189 (GRCm39)	missense	probably damaging	0.97
R7793:Gm14412	UTSW	2	177,007,660 (GRCm39)	missense	possibly damaging	0.78
R7799:Gm14412	UTSW	2	177,007,590 (GRCm39)	missense	probably benign	0.01
R8238:Gm14412	UTSW	2	177,007,111 (GRCm39)	missense	unknown
R9098:Gm14412	UTSW	2	177,006,356 (GRCm39)	missense	probably damaging	1.00
R9304:Gm14412	UTSW	2	177,007,547 (GRCm39)	missense	probably benign
R9699:Gm14412	UTSW	2	177,007,636 (GRCm39)	nonsense	probably null
RF001:Gm14412	UTSW	2	177,008,894 (GRCm39)	missense	probably benign	0.04
RF007:Gm14412	UTSW	2	177,007,494 (GRCm39)	missense	possibly damaging	0.73

Predicted Primers

Posted On

2015-01-14