Mutagenetix > Incidental Mutation

Incidental Mutation 'R0534:Gm5141'

49383

Institutional Source

Beutler Lab

Gene Symbol

Gm5141

Ensembl Gene

ENSMUSG00000091183

Gene Name

predicted gene 5141

Synonyms

MMRRC Submission

038726-MU

Accession Numbers

Essential gene?

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

Stock #

R0534 (G1)

Quality Score

149

Status

Validated

Chromosome

Chromosomal Location

62920014-62933622 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 62922408 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 254 (F254I)

Ref Sequence

ENSEMBL: ENSMUSP00000144368 (fasta)

Gene Model

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

AlphaFold

A0A0J9YUW3

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000116696

Predicted Effect

probably damaging
Transcript: ENSMUST00000167516
AA Change: F253I

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

SMART Domains

Protein: ENSMUSP00000126604
Gene: ENSMUSG00000091183
AA Change: F253I

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: F254I

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

SMART Domains

Protein: ENSMUSP00000144368
Gene: ENSMUSG00000091183
AA Change: F254I

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: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.8%

Validation Efficiency

96% (47/49)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cand2	A	G	6: 115,764,197 (GRCm39)	M324V	probably damaging	Het
Cap1	C	T	4: 122,756,512 (GRCm39)	V340M	probably benign	Het
Ccdc110	T	C	8: 46,388,175 (GRCm39)	V44A	possibly damaging	Het
Cps1	A	G	1: 67,183,059 (GRCm39)	D139G	probably benign	Het
Cwc27	T	A	13: 104,768,124 (GRCm39)	E457V	unknown	Het
Cxxc1	C	T	18: 74,351,962 (GRCm39)	P280S	probably benign	Het
Dennd2b	A	T	7: 109,140,635 (GRCm39)	V197D	probably damaging	Het
Dop1b	T	A	16: 93,559,393 (GRCm39)	L595Q	probably benign	Het
Dscam	G	T	16: 96,453,372 (GRCm39)	S1292R	possibly damaging	Het
E2f4	C	A	8: 106,030,851 (GRCm39)	F353L	probably damaging	Het
Ep300	A	G	15: 81,485,097 (GRCm39)		probably benign	Het
Fads1	C	T	19: 10,160,429 (GRCm39)	P5L	probably benign	Het
Fign	T	A	2: 63,811,135 (GRCm39)	H45L	probably damaging	Het
Flcn	T	A	11: 59,685,025 (GRCm39)		probably benign	Het
Gpbp1l1	T	A	4: 116,448,465 (GRCm39)	N402K	probably damaging	Het
Gpr37	A	T	6: 25,669,823 (GRCm39)	C340*	probably null	Het
Gtf3c2	A	T	5: 31,315,476 (GRCm39)		probably benign	Het
Hcfc2	T	A	10: 82,574,242 (GRCm39)	F139I	probably damaging	Het
Hectd4	T	C	5: 121,486,539 (GRCm39)	L3178P	possibly damaging	Het
Hrc	AGAGGAGGAGGAAGAGGAGGAGGA	AGAGGAGGAGGAGGAAGAGGAGGAGGA	7: 44,986,659 (GRCm39)		probably benign	Het
Igf2bp1	A	G	11: 95,857,622 (GRCm39)		probably benign	Het
Igsf9b	T	G	9: 27,244,358 (GRCm39)		probably null	Het
Il23r	G	A	6: 67,403,572 (GRCm39)	A443V	probably benign	Het
Kcnv1	A	G	15: 44,972,645 (GRCm39)	F413L	probably damaging	Het
Lipe	C	A	7: 25,087,611 (GRCm39)	A150S	possibly damaging	Het
Lrrcc1	T	C	3: 14,622,333 (GRCm39)	S557P	probably damaging	Het
Mrpl54	C	A	10: 81,102,687 (GRCm39)	W13L	probably damaging	Het
Mtcl3	T	A	10: 29,056,952 (GRCm39)		probably benign	Het
Myrf	G	C	19: 10,195,526 (GRCm39)	T428S	probably benign	Het
Npy1r	C	A	8: 67,157,670 (GRCm39)	Q327K	probably damaging	Het
Nt5el	C	A	13: 105,218,762 (GRCm39)	S32*	probably null	Het
Or51b17	C	T	7: 103,542,438 (GRCm39)	R168H	probably benign	Het
Osbpl10	C	T	9: 114,996,246 (GRCm39)	L139F	probably damaging	Het
P2rx6	A	C	16: 17,385,768 (GRCm39)	T199P	probably damaging	Het
Phyhip	A	T	14: 70,699,199 (GRCm39)	M1L	possibly damaging	Het
Pkd1l3	C	G	8: 110,350,281 (GRCm39)	D375E	possibly damaging	Het
Psmc1	T	A	12: 100,086,389 (GRCm39)	I342N	possibly damaging	Het
Reln	A	T	5: 22,152,406 (GRCm39)	D2353E	probably damaging	Het
Rmdn3	T	C	2: 118,976,851 (GRCm39)	E294G	probably benign	Het
Scnn1g	A	G	7: 121,366,647 (GRCm39)	M615V	probably benign	Het
Shcbp1l	T	A	1: 153,304,314 (GRCm39)	D124E	possibly damaging	Het
Sipa1l1	T	C	12: 82,472,054 (GRCm39)	S1345P	possibly damaging	Het
Taf7l2	T	C	10: 115,948,707 (GRCm39)	E273G	possibly damaging	Het
Timp4	A	G	6: 115,226,802 (GRCm39)	Y114H	probably damaging	Het
Tlr9	T	A	9: 106,102,086 (GRCm39)	L459Q	probably benign	Het
Tmem104	C	A	11: 115,091,654 (GRCm39)	T59K	probably damaging	Het
Wdr59	GGGTGGTG	GGGTG	8: 112,207,172 (GRCm39)		probably benign	Het
Zfp622	A	T	15: 25,984,654 (GRCm39)	I7F	possibly damaging	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
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
R6605:Gm5141	UTSW	13	62,922,201 (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

Posted On

2013-06-12