Mutagenetix > Incidental Mutation

Incidental Mutation 'R6605:Gm5141'

525627

Institutional Source

Beutler Lab

Gene Symbol

Gm5141

Ensembl Gene

ENSMUSG00000091183

Gene Name

predicted gene 5141

Synonyms

MMRRC Submission

044728-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R6605 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

62920014-62933622 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 62922201 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 323 (H323Y)

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: H322Y

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

SMART Domains

Protein: ENSMUSP00000126604
Gene: ENSMUSG00000091183
AA Change: H322Y

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: H323Y

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

SMART Domains

Protein: ENSMUSP00000144368
Gene: ENSMUSG00000091183
AA Change: H323Y

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

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.9%
20x: 93.8%

Validation Efficiency

92% (35/38)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	T	A	7: 45,630,481 (GRCm39)	I1260F	probably damaging	Het
Acat2	A	G	17: 13,162,774 (GRCm39)	V358A	probably benign	Het
Adgrv1	G	A	13: 81,636,081 (GRCm39)	A3476V	possibly damaging	Het
Akap13	A	G	7: 75,229,516 (GRCm39)	N150D	probably damaging	Het
Asb2	G	T	12: 103,311,943 (GRCm39)	Q60K	probably benign	Het
Asxl3	A	T	18: 22,650,134 (GRCm39)	R708*	probably null	Het
Cd79b	C	T	11: 106,203,539 (GRCm39)	G116D	probably damaging	Het
Copg2	A	G	6: 30,835,757 (GRCm39)	F218S	probably benign	Het
Defa5	A	C	8: 21,787,604 (GRCm39)	E50D	possibly damaging	Het
Efcab3	T	A	11: 104,890,107 (GRCm39)		probably null	Het
Eva1c	T	A	16: 90,663,236 (GRCm39)	V91D	probably damaging	Het
Fosb	T	C	7: 19,043,283 (GRCm39)	Y25C	probably damaging	Het
Gpr19	T	C	6: 134,847,398 (GRCm39)	N58S	probably benign	Het
Gpr26	G	A	7: 131,585,893 (GRCm39)	A288T	possibly damaging	Het
Gucy2g	T	A	19: 55,229,460 (GRCm39)	Q70L	probably damaging	Het
Ifit2	C	T	19: 34,550,897 (GRCm39)	R146*	probably null	Het
Lgr5	A	C	10: 115,293,772 (GRCm39)	N408K	possibly damaging	Het
Lrp1	G	A	10: 127,396,005 (GRCm39)	H2422Y	probably damaging	Het
Mief1	T	A	15: 80,132,692 (GRCm39)	Y191*	probably null	Het
Npr3	C	G	15: 11,905,518 (GRCm39)	A70P	probably damaging	Het
Or2y1b	A	T	11: 49,208,541 (GRCm39)	H56L	probably damaging	Het
Pcnt	A	G	10: 76,265,032 (GRCm39)		probably null	Het
Pnlip	A	T	19: 58,660,174 (GRCm39)	D29V	probably benign	Het
Pnpt1	T	A	11: 29,088,567 (GRCm39)	F277I	possibly damaging	Het
Pou2f2	A	C	7: 24,793,006 (GRCm39)	V441G	probably damaging	Het
Prdm4	A	G	10: 85,740,002 (GRCm39)	V459A	probably benign	Het
Ptprs	A	T	17: 56,729,195 (GRCm39)	V855E	probably damaging	Het
Rflna	A	G	5: 125,088,352 (GRCm39)	T100A	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Spata31h1	A	T	10: 82,131,871 (GRCm39)	S380T	probably benign	Het
Syn3	A	G	10: 85,893,428 (GRCm39)	S472P	unknown	Het
Taar8a	A	T	10: 23,952,674 (GRCm39)	I93F	possibly damaging	Het
Taok2	T	A	7: 126,477,930 (GRCm39)	D207V	probably damaging	Het
Tpst2	A	T	5: 112,424,600 (GRCm39)		probably benign	Homo
Trdv2-1	A	G	14: 54,183,999 (GRCm39)	N77S	possibly damaging	Het
Wdr17	A	C	8: 55,134,559 (GRCm39)	V18G	probably benign	Het
Zbtb17	T	C	4: 141,192,261 (GRCm39)	V402A	probably damaging	Het
Zfp772	T	C	7: 7,208,547 (GRCm39)	E99G	possibly damaging	Het
Zw10	A	G	9: 48,980,926 (GRCm39)	D442G	probably benign	Het

Other mutations in Gm5141

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0220:Gm5141	UTSW	13	62,922,271 (GRCm39)	missense	probably damaging	1.00
R0427:Gm5141	UTSW	13	62,922,525 (GRCm39)	missense	probably damaging	1.00
R0534:Gm5141	UTSW	13	62,922,408 (GRCm39)	missense	probably damaging	1.00
R0652:Gm5141	UTSW	13	62,921,946 (GRCm39)	missense	probably damaging	1.00
R1495:Gm5141	UTSW	13	62,922,084 (GRCm39)	missense	probably damaging	1.00
R2079:Gm5141	UTSW	13	62,922,424 (GRCm39)	missense	probably benign	0.06
R4780:Gm5141	UTSW	13	62,922,764 (GRCm39)	missense	unknown
R5588:Gm5141	UTSW	13	62,921,584 (GRCm39)	missense	probably benign	0.06
R6292:Gm5141	UTSW	13	62,922,252 (GRCm39)	missense	probably damaging	1.00
R6455:Gm5141	UTSW	13	62,922,597 (GRCm39)	missense	probably damaging	1.00
R7091:Gm5141	UTSW	13	62,921,778 (GRCm39)	missense	possibly damaging	0.80
R7199:Gm5141	UTSW	13	62,924,877 (GRCm39)	missense	possibly damaging	0.92
R8933:Gm5141	UTSW	13	62,924,854 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCTGAAAAGGCTTTGTCACATTCAT -3'
(R):5'- AGCCTTTTCACATCATTGTAATCTTC -3'

Sequencing Primer
(F):5'- ACATTTGAAGGGTTTCTCTCCG -3'
(R):5'- GCCTTTTCAGAGAAAGGTAGTCTCC -3'

Posted On

2018-06-22