Mutagenetix > Incidental Mutation

Incidental Mutation 'R5100:Gm14412'

388207

Institutional Source

Beutler Lab

Gene Symbol

Gm14412

Ensembl Gene

ENSMUSG00000078868

Gene Name

predicted gene 14412

Synonyms

MMRRC Submission

042689-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.752) question?

Stock #

R5100 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

177314520-177324307 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 177315115 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 329 (C329Y)

Ref Sequence

ENSEMBL: ENSMUSP00000104587 (fasta)

Gene Model

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

AlphaFold

A2ARR7

Predicted Effect

probably damaging
Transcript: ENSMUST00000108959
AA Change: C329Y

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000104587
Gene: ENSMUSG00000078868
AA Change: C329Y

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: 99.0%
3x: 98.2%
10x: 96.0%
20x: 91.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	A	T	11: 72,166,651	M774K	probably damaging	Het
Adamts3	G	A	5: 89,708,643	T357I	probably damaging	Het
Ap3m2	T	A	8: 22,789,388	M408L	probably benign	Het
Apaf1	A	T	10: 90,997,287	N1116K	probably benign	Het
Arhgap31	A	T	16: 38,601,459	I1415N	probably damaging	Het
Arhgef17	A	T	7: 100,881,756	D1374E	possibly damaging	Het
Asxl1	C	G	2: 153,397,931	N546K	probably damaging	Het
Cobll1	T	A	2: 65,125,901	T337S	probably benign	Het
Depdc1a	A	T	3: 159,515,520	I163L	probably benign	Het
Flrt3	T	A	2: 140,671,384		probably null	Het
Foxn4	A	T	5: 114,256,759	L369H	possibly damaging	Het
Gm11992	T	C	11: 9,061,290	S244P	probably damaging	Het
Gm4787	G	C	12: 81,377,830	T518S	probably benign	Het
Gm5113	G	A	7: 30,178,651	V55M	probably damaging	Het
Grhl3	A	G	4: 135,542,675	I599T	probably benign	Het
H2-Q6	G	C	17: 35,425,320	E93Q	probably benign	Het
Hk3	T	C	13: 55,009,030	T570A	probably damaging	Het
Hspb8	T	C	5: 116,415,409	I143M	probably damaging	Het
Kif15	A	G	9: 122,991,994	T655A	probably damaging	Het
Lpin2	G	A	17: 71,243,970	W708*	probably null	Het
Lrit1	T	A	14: 37,062,214	C500S	possibly damaging	Het
Macf1	A	C	4: 123,474,468	C602G	probably benign	Het
Mesd	C	T	7: 83,897,769	R147C	probably damaging	Het
Mfge8	A	T	7: 79,143,300	D139E	probably benign	Het
Ncoa3	G	A	2: 166,050,097	R131Q	probably damaging	Het
Ncoa5	A	G	2: 165,009,389	I188T	probably damaging	Het
Ngp	T	C	9: 110,420,001	L47P	probably damaging	Het
Nhlrc1	T	C	13: 47,014,421	H120R	probably benign	Het
Otos	T	A	1: 92,644,385	H73L	probably damaging	Het
Pcsk5	C	T	19: 17,515,135		probably null	Het
Phc3	T	C	3: 30,922,199	E740G	possibly damaging	Het
Pla2g7	T	C	17: 43,611,376	L382P	probably damaging	Het
Plcd3	C	A	11: 103,078,349	R264L	probably benign	Het
Pms2	A	G	5: 143,928,188	D696G	probably damaging	Het
Ptchd4	A	T	17: 42,503,676	I823F	possibly damaging	Het
Scn9a	T	C	2: 66,534,119	R828G	probably damaging	Het
Spred2	T	A	11: 20,021,291	C386*	probably null	Het
Terb1	A	T	8: 104,495,173	L165*	probably null	Het
Tgm2	A	T	2: 158,127,164	S430R	probably benign	Het
Tnxb	A	T	17: 34,710,928	I2879F	probably damaging	Het
Trpm3	T	G	19: 22,918,766	V977G	probably damaging	Het
Wnt5b	A	C	6: 119,440,488	S139A	probably benign	Het
Zfp820	C	A	17: 21,821,073	V52L	possibly damaging	Het
Zfyve26	T	A	12: 79,280,058	R764*	probably null	Het

Other mutations in Gm14412

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Gm14412	APN	2	177315686	missense	probably benign
R0124:Gm14412	UTSW	2	177315912	splice site	probably benign
R0507:Gm14412	UTSW	2	177314532	missense	possibly damaging	0.46
R1833:Gm14412	UTSW	2	177315790	missense	probably benign	0.00
R1908:Gm14412	UTSW	2	177315476	missense	probably damaging	1.00
R1908:Gm14412	UTSW	2	177315837	missense	probably benign	0.03
R2026:Gm14412	UTSW	2	177317105	missense	possibly damaging	0.92
R2209:Gm14412	UTSW	2	177317436	missense	probably damaging	1.00
R2656:Gm14412	UTSW	2	177315200	missense	unknown
R3946:Gm14412	UTSW	2	177314685	nonsense	probably null
R4430:Gm14412	UTSW	2	177315832	missense	probably benign	0.09
R4537:Gm14412	UTSW	2	177314559	missense	probably benign	0.06
R4595:Gm14412	UTSW	2	177315212	missense	unknown
R4928:Gm14412	UTSW	2	177314580	missense	probably benign	0.01
R5434:Gm14412	UTSW	2	177314612	missense	probably damaging	1.00
R5668:Gm14412	UTSW	2	177315609	nonsense	probably null
R6173:Gm14412	UTSW	2	177314537	missense	probably damaging	1.00
R6558:Gm14412	UTSW	2	177314554	missense	probably damaging	0.99
R6784:Gm14412	UTSW	2	177317340	missense	probably benign	0.10
R7094:Gm14412	UTSW	2	177317345	missense	probably damaging	1.00
R7182:Gm14412	UTSW	2	177315615	missense	probably benign	0.44
R7254:Gm14412	UTSW	2	177317396	missense	probably damaging	0.97
R7793:Gm14412	UTSW	2	177315867	missense	possibly damaging	0.78
R7799:Gm14412	UTSW	2	177315797	missense	probably benign	0.01
R8238:Gm14412	UTSW	2	177315318	missense	unknown
R9098:Gm14412	UTSW	2	177314563	missense	probably damaging	1.00
R9304:Gm14412	UTSW	2	177315754	missense	probably benign
RF001:Gm14412	UTSW	2	177317101	missense	probably benign	0.04
RF007:Gm14412	UTSW	2	177315701	missense	possibly damaging	0.73

Predicted Primers

Posted On

2016-06-06