Mutagenetix > Incidental Mutations

Incidental Mutation 'R2208:Gm14139'

236762

Institutional Source

Beutler Lab

Gene Symbol

Gm14139

Ensembl Gene

ENSMUSG00000079009

Gene Name

predicted gene 14139

Synonyms

MMRRC Submission

040210-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R2208 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

150181755-150193279 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 150193145 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 462 (V462E)

Ref Sequence

ENSEMBL: ENSMUSP00000105552 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109926] [ENSMUST00000109929]

Predicted Effect

probably benign
Transcript: ENSMUST00000109926
AA Change: V462E

PolyPhen 2 Score 0.396 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000105552
Gene: ENSMUSG00000079009
AA Change: V462E

Domain	Start	End	E-Value	Type
Blast:KRAB	1	34	7e-15	BLAST
ZnF_C2H2	71	93	8.6e-5	SMART
ZnF_C2H2	99	121	1.76e-1	SMART
ZnF_C2H2	127	149	3.02e0	SMART
ZnF_C2H2	183	205	6.08e-5	SMART
ZnF_C2H2	211	233	1.04e-3	SMART
ZnF_C2H2	239	261	2.57e-3	SMART
ZnF_C2H2	267	289	1.06e-4	SMART
ZnF_C2H2	295	317	2.2e-2	SMART
ZnF_C2H2	323	345	4.47e-3	SMART
ZnF_C2H2	351	373	7.37e-4	SMART
ZnF_C2H2	379	401	4.24e-4	SMART
ZnF_C2H2	407	429	1.2e-3	SMART
ZnF_C2H2	435	457	2.61e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109929
AA Change: V493E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000105555
Gene: ENSMUSG00000079009
AA Change: V493E

Domain	Start	End	E-Value	Type
KRAB	3	65	1.65e-15	SMART
ZnF_C2H2	102	124	8.6e-5	SMART
ZnF_C2H2	130	152	1.76e-1	SMART
ZnF_C2H2	158	180	3.02e0	SMART
ZnF_C2H2	214	236	6.08e-5	SMART
ZnF_C2H2	242	264	1.04e-3	SMART
ZnF_C2H2	270	292	2.57e-3	SMART
ZnF_C2H2	298	320	1.06e-4	SMART
ZnF_C2H2	326	348	2.2e-2	SMART
ZnF_C2H2	354	376	4.47e-3	SMART
ZnF_C2H2	382	404	7.37e-4	SMART
ZnF_C2H2	410	432	4.24e-4	SMART
ZnF_C2H2	438	460	1.2e-3	SMART
ZnF_C2H2	466	488	2.61e-4	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

98% (51/52)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	A	15: 8,194,403	N883K	probably benign	Het
Ahnak	T	C	19: 9,017,732	V5460A	probably benign	Het
Bco2	A	G	9: 50,533,455	V517A	probably damaging	Het
Brca2	T	A	5: 150,532,344	D183E	probably damaging	Het
Ccdc142	T	C	6: 83,107,960		probably null	Het
Ccdc39	A	G	3: 33,841,178	L34P	probably damaging	Het
Cdc42bpb	T	A	12: 111,336,029	H198L	probably damaging	Het
Cdc73	T	A	1: 143,609,382	E516V	probably damaging	Het
Cep170b	T	A	12: 112,738,985	L1059Q	probably benign	Het
Chrm1	T	C	19: 8,678,099	L56P	probably damaging	Het
Clec4d	T	A	6: 123,265,355	V22D	probably damaging	Het
Cyp2c39	T	C	19: 39,560,961	Y308H	possibly damaging	Het
Cyp2d12	T	C	15: 82,556,936	L141P	probably damaging	Het
Cyp4x1	G	T	4: 115,126,594	Q85K	probably benign	Het
Dpysl5	G	A	5: 30,791,597	D399N	probably damaging	Het
Enpp7	T	C	11: 118,988,762		probably benign	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Fitm2	T	A	2: 163,472,684		probably benign	Het
Gng10	T	A	4: 59,035,314	I26N	possibly damaging	Het
Gpr33	C	T	12: 52,023,453	V268I	probably benign	Het
Hmcn2	G	A	2: 31,380,297	C1182Y	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 52,725,906		probably benign	Het
Krt36	C	T	11: 100,102,939	V358M	probably damaging	Het
Lmod3	T	C	6: 97,247,877	I328V	probably benign	Het
Lrp8	T	C	4: 107,855,790	V580A	probably damaging	Het
Masp2	T	C	4: 148,614,415	I651T	probably damaging	Het
Mnd1	C	A	3: 84,134,109	C62F	probably benign	Het
Msi2	A	T	11: 88,590,108	S118T	probably damaging	Het
Muc19	T	C	15: 91,871,549		noncoding transcript	Het
Nabp1	G	A	1: 51,477,614	R32*	probably null	Het
Nfix	CAAAAA	CAAAA	8: 84,716,247		probably null	Het
Nup88	T	C	11: 70,965,719	D196G	probably damaging	Het
Olfr747	T	C	14: 50,681,563	I24V	probably benign	Het
Pax1	T	A	2: 147,365,802	I198N	probably damaging	Het
Pde3a	A	G	6: 141,250,347	E253G	probably damaging	Het
Phldb1	C	T	9: 44,696,131	R1192Q	probably damaging	Het
Pianp	C	A	6: 124,999,639	P137Q	probably damaging	Het
Prdm15	A	C	16: 97,799,264		probably null	Het
Ptprf	A	T	4: 118,269,172		probably benign	Het
Rfx7	A	G	9: 72,617,964	D812G	probably benign	Het
Rgs22	T	C	15: 36,050,232	T691A	probably benign	Het
Rundc3a	A	T	11: 102,402,088	S436C	probably damaging	Het
Sntb1	T	C	15: 55,906,318	T92A	possibly damaging	Het
Tarsl2	T	C	7: 65,682,848	S566P	probably damaging	Het
Tbc1d32	A	T	10: 56,150,792		probably null	Het
Tep1	T	C	14: 50,866,864	Q191R	probably benign	Het
Tmc2	C	A	2: 130,214,563		probably null	Het
Tns1	A	C	1: 74,079,240	I77S	probably damaging	Het
Trpd52l3	T	C	19: 30,004,246	W134R	probably damaging	Het
Vmn2r15	A	C	5: 109,297,443	N38K	possibly damaging	Het
Wdr90	A	T	17: 25,860,388	D257E	probably damaging	Het
Zbtb9	T	C	17: 26,974,124	C168R	possibly damaging	Het

Other mutations in Gm14139

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0254:Gm14139	UTSW	2	150191864	missense	possibly damaging	0.78
R0505:Gm14139	UTSW	2	150193080	nonsense	probably null
R0562:Gm14139	UTSW	2	150192574	missense	probably damaging	1.00
R1239:Gm14139	UTSW	2	150191971	missense	possibly damaging	0.94
R1878:Gm14139	UTSW	2	150193069	missense	probably damaging	1.00
R1966:Gm14139	UTSW	2	150191907	missense	probably benign	0.00
R2001:Gm14139	UTSW	2	150192947	missense	probably benign	0.00
R3110:Gm14139	UTSW	2	150192221	missense	probably damaging	1.00
R3112:Gm14139	UTSW	2	150192221	missense	probably damaging	1.00
R4135:Gm14139	UTSW	2	150181868	splice site	probably benign
R4299:Gm14139	UTSW	2	150190733	missense	probably damaging	1.00
R4579:Gm14139	UTSW	2	150192223	missense	probably damaging	1.00
R4818:Gm14139	UTSW	2	150192061	missense	probably damaging	1.00
R4894:Gm14139	UTSW	2	150191979	nonsense	probably null
R5432:Gm14139	UTSW	2	150191981	missense	possibly damaging	0.68
R5669:Gm14139	UTSW	2	150192178	missense	probably benign	0.09
R6106:Gm14139	UTSW	2	150192805	missense	probably damaging	1.00
R6857:Gm14139	UTSW	2	150192062	missense	probably damaging	1.00
R7450:Gm14139	UTSW	2	150193126	missense	probably benign	0.04
R8011:Gm14139	UTSW	2	150192346	missense	possibly damaging	0.70

Predicted Primers

PCR Primer
(F):5'- TCGTCTCCAAGTGGATTCCTGT -3'
(R):5'- CACACGCCTTTAATTCTAGCACTTG -3'

Sequencing Primer
(F):5'- GTGGTAAATCCTTCATACATCGCAG -3'
(R):5'- ACACTCATAGGGTTTCTCTTTC -3'

Posted On

2014-10-02