Mutagenetix > Incidental Mutation

Incidental Mutation 'R3946:Gm14412'

348317

Institutional Source

Beutler Lab

Gene Symbol

Gm14412

Ensembl Gene

ENSMUSG00000078868

Gene Name

predicted gene 14412

Synonyms

MMRRC Submission

040827-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.729) question?

Stock #

R3946 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

177314520-177324307 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 177314685 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 472 (C472*)

Ref Sequence

ENSEMBL: ENSMUSP00000104587 (fasta)

Gene Model

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

AlphaFold

A2ARR7

Predicted Effect

probably null
Transcript: ENSMUST00000108959
AA Change: C472*

SMART Domains

Protein: ENSMUSP00000104587
Gene: ENSMUSG00000078868
AA Change: C472*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.1%

Validation Efficiency

98% (60/61)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaed1	T	C	13: 64,309,098	I104V	probably damaging	Het
Abi2	A	G	1: 60,453,754	Q328R	probably damaging	Het
Agr3	C	A	12: 35,947,513		probably benign	Het
Brca2	T	A	5: 150,536,704	S481R	probably damaging	Het
Cabin1	T	G	10: 75,745,259	Q411P	probably damaging	Het
Calr3	A	G	8: 72,443,620	Y22H	probably damaging	Het
Caprin1	T	A	2: 103,796,766	I59F	probably damaging	Het
Cdk5rap1	T	C	2: 154,348,716	T442A	probably damaging	Het
Chn2	T	C	6: 54,269,426		probably benign	Het
Cic	C	A	7: 25,272,346	R501S	possibly damaging	Het
Coch	A	G	12: 51,601,812		probably null	Het
Defa25	G	A	8: 21,084,490	V17I	probably null	Het
Dglucy	T	C	12: 100,838,700		probably null	Het
Dtx1	T	G	5: 120,681,286	T616P	possibly damaging	Het
Eef1g	T	C	19: 8,969,977	L171P	probably benign	Het
Fam135a	A	G	1: 24,030,394	S465P	probably damaging	Het
Gm14025	A	G	2: 129,039,601	L135P	probably damaging	Het
Gm7104	T	C	12: 88,286,042		noncoding transcript	Het
Got2	A	G	8: 95,888,230	S26P	probably benign	Het
H2-M11	A	G	17: 36,549,231	I329M	probably damaging	Het
Hmcn2	T	A	2: 31,382,394	D1295E	possibly damaging	Het
Hoxd12	G	T	2: 74,675,427	R114L	probably damaging	Het
Ilkap	A	C	1: 91,387,250	D124E	probably damaging	Het
Med6	T	C	12: 81,581,851	Y88C	probably damaging	Het
Mep1a	A	T	17: 43,475,041	L719*	probably null	Het
Mmp23	T	C	4: 155,652,023	Y187C	probably damaging	Het
Myo1g	A	G	11: 6,520,760	M32T	possibly damaging	Het
Ncstn	T	C	1: 172,067,494	E614G	probably benign	Het
Nr2c2	C	T	6: 92,163,138	R464W	probably damaging	Het
Olfr1309	G	A	2: 111,983,297	T259M	possibly damaging	Het
Otub2	T	A	12: 103,392,826	L58*	probably null	Het
Pcdhga12	G	A	18: 37,767,629	V505I	probably benign	Het
Pcdhga9	T	A	18: 37,737,844	V242D	probably damaging	Het
Pex1	C	T	5: 3,626,084	L891F	probably damaging	Het
Pgm1	C	T	5: 64,112,061	T497I	probably benign	Het
Pikfyve	T	C	1: 65,196,681	F171L	probably damaging	Het
Pilrb1	T	G	5: 137,857,392	K79T	probably benign	Het
Pin1	C	T	9: 20,655,364	R21W	probably damaging	Het
Ptprq	A	G	10: 107,686,392		probably benign	Het
Rad17	G	A	13: 100,622,863	A552V	possibly damaging	Het
Rbbp8	A	G	18: 11,718,868	T249A	probably benign	Het
Rtkn	A	T	6: 83,135,976	I10F	probably benign	Het
Scube2	T	A	7: 109,857,590	I103F	possibly damaging	Het
Sec23b	A	G	2: 144,581,973	H514R	probably benign	Het
Serbp1	T	A	6: 67,272,220	D223E	probably benign	Het
Slc14a1	C	A	18: 78,111,392	V260L	probably benign	Het
Slc22a23	A	G	13: 34,183,126	I633T	probably damaging	Het
Stk19	A	T	17: 34,824,747		probably benign	Het
Svs2	T	C	2: 164,237,127	M287V	probably benign	Het
Syne3	T	A	12: 104,958,066	Q358L	probably damaging	Het
Synj1	A	G	16: 91,010,096	F58L	possibly damaging	Het
Tg	T	C	15: 66,674,023	V198A	probably damaging	Het
Tle4	A	T	19: 14,597,388	Y9N	probably damaging	Het
Tmem57	A	G	4: 134,804,481	Y626H	probably damaging	Het
Tmx3	G	A	18: 90,524,335	A186T	possibly damaging	Het
Traf3	G	A	12: 111,255,245	S280N	possibly damaging	Het
Trmt13	A	G	3: 116,581,518	F447S	probably damaging	Het
Trp53bp1	T	A	2: 121,228,626	H918L	probably damaging	Het
Ush2a	T	G	1: 188,728,504	V2654G	probably benign	Het
Vmn2r25	A	G	6: 123,840,098	Y175H	probably damaging	Het
Zfp335	T	C	2: 164,892,189	D1330G	probably damaging	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
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
R5100:Gm14412	UTSW	2	177315115	missense	probably damaging	0.99
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
R9699:Gm14412	UTSW	2	177315843	nonsense	probably null
RF001:Gm14412	UTSW	2	177317101	missense	probably benign	0.04
RF007:Gm14412	UTSW	2	177315701	missense	possibly damaging	0.73

Predicted Primers

PCR Primer
(F):5'- TGGAGGTCAATGCTTGCTGC -3'
(R):5'- ATGTGGAAAAGCCTTTGCAAG -3'

Sequencing Primer
(F):5'- CTGCAAAGGCTTTACCACATTGG -3'
(R):5'- GCCTTTGCAAGAAAATGTGACCTC -3'

Posted On

2015-10-05