Mutagenetix > Incidental Mutations

Incidental Mutation 'R0402:Gm14124'

35600

Institutional Source

Beutler Lab

Gene Symbol

Gm14124

Ensembl Gene

ENSMUSG00000079008

Gene Name

predicted gene 14124

Synonyms

MMRRC Submission

038607-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R0402 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

150257517-150270300 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 150269216 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 609 (C609S)

Ref Sequence

ENSEMBL: ENSMUSP00000105548 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109922]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109922
AA Change: C609S

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000105548
Gene: ENSMUSG00000079008
AA Change: C609S

Domain	Start	End	E-Value	Type
KRAB	4	66	9.26e-19	SMART
ZnF_C2H2	103	125	7.49e-5	SMART
ZnF_C2H2	131	151	9.46e0	SMART
ZnF_C2H2	159	181	5.9e-3	SMART
ZnF_C2H2	187	209	6.67e-2	SMART
ZnF_C2H2	215	237	4.87e-4	SMART
ZnF_C2H2	243	265	2.82e0	SMART
ZnF_C2H2	271	293	2.2e2	SMART
ZnF_C2H2	299	321	1.4e-4	SMART
ZnF_C2H2	327	349	1.6e-4	SMART
ZnF_C2H2	355	377	1.18e-2	SMART
ZnF_C2H2	383	405	1.38e-3	SMART
ZnF_C2H2	411	433	9.56e1	SMART
ZnF_C2H2	439	461	6.99e-5	SMART
ZnF_C2H2	467	489	2.99e-4	SMART
ZnF_C2H2	495	517	7.78e-3	SMART
ZnF_C2H2	523	545	1.04e-3	SMART
ZnF_C2H2	551	573	1.6e-4	SMART
ZnF_C2H2	579	601	1.18e-2	SMART
ZnF_C2H2	607	629	4.54e-4	SMART
ZnF_C2H2	635	657	4.24e-4	SMART
ZnF_C2H2	663	685	1.2e-3	SMART
ZnF_C2H2	691	713	8.47e-4	SMART

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 98.2%
3x: 97.0%
10x: 94.5%
20x: 88.7%

Validation Efficiency

100% (74/74)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	A	T	10: 100,609,253	K165N	probably damaging	Het
Adam6b	T	A	12: 113,489,995	M144K	probably damaging	Het
Arhgap44	T	C	11: 65,032,077		probably benign	Het
Arl5c	T	A	11: 97,995,113	I21F	probably damaging	Het
Bglap2	C	T	3: 88,378,245	G40D	probably damaging	Het
Bptf	T	C	11: 107,074,114	E1303G	probably damaging	Het
Calhm1	T	C	19: 47,141,457	T209A	probably damaging	Het
Ccr8	A	G	9: 120,094,910		probably null	Het
Chkb	C	T	15: 89,429,407	R65Q	probably benign	Het
Col4a1	T	C	8: 11,199,838		probably benign	Het
Cryzl2	A	G	1: 157,464,444	T98A	probably benign	Het
D430041D05Rik	T	C	2: 104,168,164	T1080A	probably damaging	Het
Dhx8	C	A	11: 101,752,397	T765N	probably damaging	Het
Dicer1	T	C	12: 104,731,064	D78G	probably benign	Het
Drd2	A	G	9: 49,404,971	I344V	probably benign	Het
Edil3	A	T	13: 89,199,451		probably benign	Het
Fam71a	T	C	1: 191,164,440	D2G	probably benign	Het
Fam71f1	A	G	6: 29,323,902	T209A	probably benign	Het
Fbxw19	C	T	9: 109,484,425	G235D	probably benign	Het
Fzd1	T	C	5: 4,755,702	K627E	possibly damaging	Het
Gm10638	A	G	8: 86,746,200		probably benign	Het
H6pd	G	T	4: 149,996,316	A24E	probably damaging	Het
Hectd2	G	T	19: 36,601,529		probably null	Het
Hps5	A	G	7: 46,790,909		probably benign	Het
Irx3	T	C	8: 91,800,668	N136S	possibly damaging	Het
Kcmf1	T	C	6: 72,849,585	M1V	probably null	Het
Klrb1	A	T	6: 128,710,620	F104I	probably benign	Het
Lrfn5	T	C	12: 61,840,017	M197T	probably benign	Het
Mpdz	A	C	4: 81,361,440	M51R	possibly damaging	Het
Mtbp	G	T	15: 55,569,070	E258*	probably null	Het
Mylk3	T	A	8: 85,352,910	H373L	probably damaging	Het
Myrfl	A	G	10: 116,828,977	S383P	probably damaging	Het
Nt5c	T	C	11: 115,490,642	*195W	probably null	Het
Ocstamp	A	G	2: 165,396,264	V360A	possibly damaging	Het
Olfr1180	A	T	2: 88,412,034	V208D	probably damaging	Het
Olfr122	T	A	17: 37,772,393	C247S	probably damaging	Het
Olfr1277	A	G	2: 111,269,863	F168S	probably damaging	Het
Olfr1330	A	T	4: 118,893,229	I49F	possibly damaging	Het
Olfr1431	A	G	19: 12,209,589	T8A	probably damaging	Het
Otop2	T	C	11: 115,326,408		probably benign	Het
Pom121l2	A	T	13: 21,988,479		probably benign	Het
Pon2	T	A	6: 5,272,410	K137*	probably null	Het
Ppip5k2	T	A	1: 97,719,854	Q1049L	probably benign	Het
Ralgapa2	C	T	2: 146,434,809	V504M	probably damaging	Het
Rph3a	G	A	5: 120,942,254	H654Y	probably damaging	Het
Sh2d1b1	T	C	1: 170,279,773		probably benign	Het
Slc15a2	G	A	16: 36,775,598	T154I	probably benign	Het
Slc45a3	T	C	1: 131,977,527	V96A	possibly damaging	Het
Slc7a4	A	G	16: 17,575,633	S101P	probably damaging	Het
Smco2	T	C	6: 146,871,135		probably benign	Het
Spata2	A	T	2: 167,483,660	V413E	probably benign	Het
Specc1l	A	G	10: 75,246,426	E552G	probably damaging	Het
Sstr5	C	T	17: 25,492,034	V74M	probably benign	Het
Timm50	G	A	7: 28,306,855	R274W	probably damaging	Het
Tll2	A	G	19: 41,098,693	V573A	possibly damaging	Het
Tm7sf3	C	A	6: 146,606,187	R459M	possibly damaging	Het
Txk	A	G	5: 72,731,762		probably null	Het
Uroc1	A	G	6: 90,347,302	D436G	probably damaging	Het
Vmn1r13	T	A	6: 57,210,098	Y81N	possibly damaging	Het
Vmn2r19	A	G	6: 123,336,182	E737G	probably damaging	Het
Wfs1	A	G	5: 36,976,980		probably benign	Het
Zfp1	G	A	8: 111,670,243	E285K	probably damaging	Het
Zfp661	G	A	2: 127,577,720	Q167*	probably null	Het
Zswim8	T	C	14: 20,710,766	F36S	probably damaging	Het
Zw10	A	G	9: 49,068,723	T385A	probably benign	Het

Other mutations in Gm14124

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01550:Gm14124	APN	2	150266443	splice site	probably benign
R0220:Gm14124	UTSW	2	150268675	missense	unknown
R0396:Gm14124	UTSW	2	150268053	missense	probably damaging	1.00
R0446:Gm14124	UTSW	2	150268073	missense	possibly damaging	0.71
R0462:Gm14124	UTSW	2	150269202	missense	possibly damaging	0.80
R0507:Gm14124	UTSW	2	150268124	missense	possibly damaging	0.69
R0605:Gm14124	UTSW	2	150268603	missense	unknown
R0838:Gm14124	UTSW	2	150269300	missense	possibly damaging	0.74
R1327:Gm14124	UTSW	2	150266150	missense	possibly damaging	0.71
R1405:Gm14124	UTSW	2	150267700	nonsense	probably null
R1405:Gm14124	UTSW	2	150267700	nonsense	probably null
R2114:Gm14124	UTSW	2	150267899	missense	unknown
R2140:Gm14124	UTSW	2	150269361	missense	probably benign	0.33
R3683:Gm14124	UTSW	2	150268056	missense	probably benign	0.41
R3917:Gm14124	UTSW	2	150266119	splice site	probably benign
R4084:Gm14124	UTSW	2	150266202	missense	possibly damaging	0.85
R4499:Gm14124	UTSW	2	150269442	missense	possibly damaging	0.93
R4683:Gm14124	UTSW	2	150266470	missense	possibly damaging	0.53
R4762:Gm14124	UTSW	2	150267629	missense	possibly damaging	0.53
R4937:Gm14124	UTSW	2	150268760	missense	unknown
R5678:Gm14124	UTSW	2	150268505	nonsense	probably null
R5696:Gm14124	UTSW	2	150269474	missense	possibly damaging	0.52
R5697:Gm14124	UTSW	2	150269474	missense	possibly damaging	0.52
R5698:Gm14124	UTSW	2	150269474	missense	possibly damaging	0.52
R5769:Gm14124	UTSW	2	150268278	missense	possibly damaging	0.87
R5780:Gm14124	UTSW	2	150266219	missense	probably benign	0.05
R5973:Gm14124	UTSW	2	150267935	missense	unknown
R6662:Gm14124	UTSW	2	150266252	critical splice donor site	probably null
R6878:Gm14124	UTSW	2	150266486	missense	possibly damaging	0.86
R7037:Gm14124	UTSW	2	150266456	missense	possibly damaging	0.86
R7081:Gm14124	UTSW	2	150268269	missense	possibly damaging	0.66
R7413:Gm14124	UTSW	2	150266161	missense	possibly damaging	0.93
R7725:Gm14124	UTSW	2	150268548	missense	unknown
R7781:Gm14124	UTSW	2	150267657	missense	possibly damaging	0.53
X0022:Gm14124	UTSW	2	150267658	missense	possibly damaging	0.53
Z1177:Gm14124	UTSW	2	150268317	missense	possibly damaging	0.84
Z1177:Gm14124	UTSW	2	150268324	missense	possibly damaging	0.94

Predicted Primers

Posted On

2013-05-09