Mutagenetix > Incidental Mutations

Incidental Mutation 'R6292:Gm5141'

508514

Institutional Source

Beutler Lab

Gene Symbol

Gm5141

Ensembl Gene

ENSMUSG00000091183

Gene Name

predicted gene 5141

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R6292 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

62772200-62785808 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 62774438 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 306 (C306S)

Ref Sequence

ENSEMBL: ENSMUSP00000144368 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000167516] [ENSMUST00000201047]

AlphaFold

A0A0J9YUW3

Predicted Effect

probably damaging
Transcript: ENSMUST00000167516
AA Change: C305S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126604
Gene: ENSMUSG00000091183
AA Change: C305S

Domain	Start	End	E-Value	Type
KRAB	3	65	2.32e-19	SMART
ZnF_C2H2	132	154	1.51e0	SMART
ZnF_C2H2	160	182	6.52e-5	SMART
ZnF_C2H2	188	210	5.42e-2	SMART
ZnF_C2H2	216	238	1.84e-4	SMART
ZnF_C2H2	244	266	1.3e-4	SMART
ZnF_C2H2	272	294	1.22e-4	SMART
ZnF_C2H2	300	322	1.82e-3	SMART
ZnF_C2H2	328	350	2.79e-4	SMART
ZnF_C2H2	356	378	3.89e-3	SMART
ZnF_C2H2	384	406	4.94e-5	SMART
ZnF_C2H2	412	434	5.67e-5	SMART
ZnF_C2H2	440	462	7.49e-5	SMART
ZnF_C2H2	468	490	5.21e-4	SMART
ZnF_C2H2	496	518	4.87e-4	SMART
ZnF_C2H2	524	546	1.22e-4	SMART
ZnF_C2H2	552	574	1.18e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000179519

Predicted Effect

probably damaging
Transcript: ENSMUST00000201047
AA Change: C306S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144368
Gene: ENSMUSG00000091183
AA Change: C306S

Domain	Start	End	E-Value	Type
KRAB	4	66	9.8e-22	SMART
ZnF_C2H2	133	155	6.5e-3	SMART
ZnF_C2H2	161	183	2.7e-7	SMART
ZnF_C2H2	189	211	2.4e-4	SMART
ZnF_C2H2	217	239	8.1e-7	SMART
ZnF_C2H2	245	267	5.6e-7	SMART
ZnF_C2H2	273	295	5.1e-7	SMART
ZnF_C2H2	301	323	7.9e-6	SMART
ZnF_C2H2	329	351	1.2e-6	SMART
ZnF_C2H2	357	379	1.7e-5	SMART
ZnF_C2H2	385	407	2.1e-7	SMART
ZnF_C2H2	413	435	2.4e-7	SMART
ZnF_C2H2	441	463	3.2e-7	SMART
ZnF_C2H2	469	491	2.2e-6	SMART
ZnF_C2H2	497	519	2.2e-6	SMART
ZnF_C2H2	525	547	5.4e-7	SMART
ZnF_C2H2	553	575	4.9e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202582

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.5%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	T	A	5: 114,200,251	V709E	probably damaging	Het
Ankrd33b	C	T	15: 31,325,085		probably null	Het
Apaf1	T	C	10: 90,991,563	T1202A	possibly damaging	Het
Apip	G	T	2: 103,092,467	C210F	probably benign	Het
Chd9	A	T	8: 90,932,922	H170L	probably benign	Het
Clec16a	T	C	16: 10,560,151		probably null	Het
Ep300	T	A	15: 81,616,734		probably benign	Het
Etl4	C	T	2: 20,743,573	H39Y	probably damaging	Het
Gdap1l1	A	T	2: 163,451,507	I218F	probably damaging	Het
Gm9961	C	T	16: 11,930,472		noncoding transcript	Het
Gpr27	C	T	6: 99,693,658	S327L	possibly damaging	Het
Hectd3	A	C	4: 116,998,808	T435P	probably damaging	Het
Hs3st1	T	A	5: 39,614,790	Q170L	possibly damaging	Het
Hykk	T	C	9: 54,920,826		probably null	Het
Lilra5	T	C	7: 4,238,339	S92P	possibly damaging	Het
Lrig1	A	T	6: 94,616,445	N418K	probably damaging	Het
Miga1	A	G	3: 152,317,719	F232L	probably benign	Het
Mkrn2	T	A	6: 115,613,334	M217K	probably damaging	Het
Myh7b	A	T	2: 155,632,396	Q1677L	probably damaging	Het
N4bp1	T	C	8: 86,853,239	E645G	probably damaging	Het
Nckap5	T	C	1: 125,915,015	K1752E	probably damaging	Het
Nek1	A	G	8: 61,054,736		probably null	Het
Ntng1	T	C	3: 110,143,886		probably benign	Het
Nup133	A	G	8: 123,917,437	V730A	probably benign	Het
Olfr314	T	A	11: 58,786,237	M1K	probably null	Het
Olfr620	T	A	7: 103,612,179	H58L	probably damaging	Het
Paqr6	C	T	3: 88,367,898	P213S	probably damaging	Het
Pign	A	T	1: 105,585,077	V627D	possibly damaging	Het
Rasal1	T	A	5: 120,659,620	V139E	probably damaging	Het
Scgb1b24	G	T	7: 33,744,152	A79S	possibly damaging	Het
Slc25a28	T	C	19: 43,664,592	D210G	probably benign	Het
Slc38a3	A	T	9: 107,655,154	I393N	possibly damaging	Het
Slc41a2	T	C	10: 83,254,926	N465D	probably damaging	Het
Slc5a5	G	A	8: 70,891,178	T160I	probably damaging	Het
Smarca2	C	T	19: 26,630,892	A117V	probably damaging	Het
Sorcs2	C	T	5: 36,062,587	R371H	probably damaging	Het
Taf4	A	G	2: 179,923,987	S872P	probably damaging	Het
Tdrd3	G	T	14: 87,506,254	C540F	probably benign	Het
Thumpd1	A	T	7: 119,720,674	L23Q	probably benign	Het
Top1	A	T	2: 160,698,141	Y213F	probably benign	Het
Txndc5	T	C	13: 38,528,184		probably null	Het
Unc79	C	A	12: 103,142,732	A2005D	possibly damaging	Het
Upb1	T	C	10: 75,438,171	L344P	probably damaging	Het
Vmn1r72	T	A	7: 11,669,652	S290C	probably benign	Het
Vmn2r103	A	G	17: 19,793,604	I219M	possibly damaging	Het
Wapl	A	G	14: 34,729,195	T729A	probably damaging	Het
Washc5	C	T	15: 59,355,934	R393H	probably damaging	Het

Other mutations in Gm5141

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0220:Gm5141	UTSW	13	62774457	missense	probably damaging	1.00
R0427:Gm5141	UTSW	13	62774711	missense	probably damaging	1.00
R0534:Gm5141	UTSW	13	62774594	missense	probably damaging	1.00
R0652:Gm5141	UTSW	13	62774132	missense	probably damaging	1.00
R1495:Gm5141	UTSW	13	62774270	missense	probably damaging	1.00
R2079:Gm5141	UTSW	13	62774610	missense	probably benign	0.06
R4780:Gm5141	UTSW	13	62774950	missense	unknown
R5588:Gm5141	UTSW	13	62773770	missense	probably benign	0.06
R6455:Gm5141	UTSW	13	62774783	missense	probably damaging	1.00
R6605:Gm5141	UTSW	13	62774387	missense	probably damaging	1.00
R7091:Gm5141	UTSW	13	62773964	missense	possibly damaging	0.80
R7199:Gm5141	UTSW	13	62777063	missense	possibly damaging	0.92
R8933:Gm5141	UTSW	13	62777040	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TTGAAGGGTTTCTCTCCGGT -3'
(R):5'- AAAACCCTTCAAATGTAATCAGTGTGA -3'

Sequencing Primer
(F):5'- TGTGATGTGAAAAGGCTTTATCAC -3'
(R):5'- GAATGTGACAAAGCCTTTTCCC -3'

Posted On

2018-03-15