Mutagenetix > Incidental Mutation

Incidental Mutation 'R5180:Gm5134'

399738

Institutional Source

Beutler Lab

Gene Symbol

Gm5134

Ensembl Gene

ENSMUSG00000033255

Gene Name

predicted gene 5134

Synonyms

MMRRC Submission

042760-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.113) question?

Stock #

R5180 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75790348-75845425 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75812200 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 152 (Y152H)

Ref Sequence

ENSEMBL: ENSMUSP00000097172 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099577]

AlphaFold

E9QAB5

Predicted Effect

probably damaging
Transcript: ENSMUST00000099577
AA Change: Y152H

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

SMART Domains

Protein: ENSMUSP00000097172
Gene: ENSMUSG00000033255
AA Change: Y152H

Domain	Start	End	E-Value	Type
Pfam:SSF	32	466	2.9e-119	PFAM
transmembrane domain	500	522	N/A	INTRINSIC
transmembrane domain	651	670	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134234

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

97% (60/62)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,416,510 (GRCm39)	T4091A	probably benign	Het
Adgrv1	G	A	13: 81,431,535 (GRCm39)		probably benign	Het
Ago3	C	T	4: 126,261,544 (GRCm39)	V435I	probably benign	Het
Akap10	C	T	11: 61,807,015 (GRCm39)	A72T	probably damaging	Het
Ampd2	G	T	3: 107,986,358 (GRCm39)	Q273K	probably benign	Het
Ankrd35	C	A	3: 96,587,789 (GRCm39)	H109Q	probably damaging	Het
Atpaf2	A	G	11: 60,296,695 (GRCm39)	L153S	possibly damaging	Het
C1qtnf7	G	A	5: 43,773,156 (GRCm39)	V152M	probably benign	Het
Ccnb1	C	G	13: 100,918,283 (GRCm39)	Q121H	possibly damaging	Het
Cep295	C	T	9: 15,243,416 (GRCm39)	C1680Y	probably benign	Het
Cyp4f15	A	T	17: 32,909,714 (GRCm39)	I104F	probably benign	Het
Daam1	A	G	12: 71,993,899 (GRCm39)	N434S	unknown	Het
Dab2ip	C	T	2: 35,610,503 (GRCm39)	P782L	possibly damaging	Het
Dhx34	C	A	7: 15,939,405 (GRCm39)	G663*	probably null	Het
Dnah7a	T	C	1: 53,462,446 (GRCm39)	D3715G	probably damaging	Het
Dnajc11	C	T	4: 152,054,396 (GRCm39)	R201C	probably damaging	Het
Erf	A	T	7: 24,945,690 (GRCm39)	I27N	probably damaging	Het
Fbxl7	T	A	15: 26,543,507 (GRCm39)	Y380F	probably damaging	Het
Gm3336	A	G	8: 71,173,110 (GRCm39)		probably benign	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Gm6899	A	G	11: 26,543,795 (GRCm39)		probably benign	Het
Gna11	T	C	10: 81,380,707 (GRCm39)	K19E	probably benign	Het
Gpr15	C	A	16: 58,538,248 (GRCm39)	L280F	probably benign	Het
Grhl3	T	A	4: 135,286,415 (GRCm39)	K89*	probably null	Het
Ino80d	C	A	1: 63,125,488 (GRCm39)		probably benign	Het
Irak3	T	G	10: 119,981,687 (GRCm39)	K406T	probably damaging	Het
Kif15	G	A	9: 122,828,275 (GRCm39)	C634Y	probably damaging	Het
Lin9	T	A	1: 180,496,763 (GRCm39)	L351I	probably benign	Het
Macrod2	A	T	2: 140,237,636 (GRCm39)	E14V	probably damaging	Het
Matn3	T	A	12: 9,005,374 (GRCm39)	D261E	probably benign	Het
Mdga1	A	T	17: 30,076,710 (GRCm39)		probably benign	Het
Natd1	G	T	11: 60,804,482 (GRCm39)	R24S	probably benign	Het
Ncapd3	T	A	9: 26,962,941 (GRCm39)	D415E	possibly damaging	Het
Or5b101	A	T	19: 13,004,776 (GRCm39)	S306T	probably benign	Het
Parp9	T	A	16: 35,774,106 (GRCm39)	Y81*	probably null	Het
Pde4d	A	G	13: 109,877,007 (GRCm39)	N73S	probably benign	Het
Pigb	A	T	9: 72,941,872 (GRCm39)	I129N	probably damaging	Het
Plxnb1	C	A	9: 108,940,761 (GRCm39)		probably null	Het
Ppfibp1	G	T	6: 146,928,819 (GRCm39)	R813L	probably damaging	Het
Ramp3	T	A	11: 6,608,619 (GRCm39)	L16Q	unknown	Het
Slc35a4	T	C	18: 36,815,688 (GRCm39)	S173P	probably benign	Het
Slc41a1	T	C	1: 131,772,115 (GRCm39)	V415A	probably damaging	Het
Smarcc2	CCAGCAGCAGCAGCAGCAGC	CCAGCAGCAGCAGCAGC	10: 128,323,231 (GRCm39)		probably benign	Het
Snph	G	A	2: 151,442,307 (GRCm39)	R43W	probably benign	Het
Sptan1	A	T	2: 29,883,736 (GRCm39)		probably benign	Het
Supt20	C	A	3: 54,616,506 (GRCm39)	H254Q	probably benign	Het
Taar7a	A	G	10: 23,869,046 (GRCm39)	C112R	probably damaging	Het
Tbc1d4	T	C	14: 101,745,008 (GRCm39)	Y206C	probably damaging	Het
Tecta	A	G	9: 42,248,504 (GRCm39)	V1961A	probably damaging	Het
Tgfbr1	T	A	4: 47,383,948 (GRCm39)	Y30*	probably null	Het
Tmem71	C	T	15: 66,427,063 (GRCm39)	S44N	probably benign	Het
Tnfrsf1b	C	A	4: 144,954,067 (GRCm39)	C94F	probably damaging	Het
Ttn	A	G	2: 76,579,740 (GRCm39)	Y23718H	probably damaging	Het
Ube2i	T	C	17: 25,484,268 (GRCm39)		probably benign	Het
Vmn2r16	G	T	5: 109,478,391 (GRCm39)	V49F	probably benign	Het
Vps45	A	G	3: 95,953,683 (GRCm39)	I223T	possibly damaging	Het
Zfp955a	T	C	17: 33,461,592 (GRCm39)	Y180C	probably benign	Het
Zhx1	C	G	15: 57,917,470 (GRCm39)	G259R	probably damaging	Het
Zscan18	T	A	7: 12,509,216 (GRCm39)		probably benign	Het

Other mutations in Gm5134

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00941:Gm5134	APN	10	75,836,255 (GRCm39)	missense	possibly damaging	0.70
IGL01371:Gm5134	APN	10	75,840,581 (GRCm39)	missense	probably damaging	0.99
IGL02140:Gm5134	APN	10	75,821,945 (GRCm39)	missense	probably benign	0.03
IGL02197:Gm5134	APN	10	75,790,536 (GRCm39)	critical splice donor site	probably null
IGL02233:Gm5134	APN	10	75,844,334 (GRCm39)	critical splice acceptor site	probably null
IGL02612:Gm5134	APN	10	75,828,323 (GRCm39)	missense	probably damaging	1.00
IGL02896:Gm5134	APN	10	75,810,058 (GRCm39)	missense	possibly damaging	0.82
R0021:Gm5134	UTSW	10	75,829,718 (GRCm39)	missense	probably damaging	1.00
R0021:Gm5134	UTSW	10	75,829,718 (GRCm39)	missense	probably damaging	1.00
R0035:Gm5134	UTSW	10	75,829,698 (GRCm39)	missense	probably benign	0.01
R0035:Gm5134	UTSW	10	75,829,698 (GRCm39)	missense	probably benign	0.01
R0110:Gm5134	UTSW	10	75,810,079 (GRCm39)	missense	probably benign	0.03
R0499:Gm5134	UTSW	10	75,828,359 (GRCm39)	missense	probably benign	0.00
R0510:Gm5134	UTSW	10	75,810,079 (GRCm39)	missense	probably benign	0.03
R1429:Gm5134	UTSW	10	75,814,215 (GRCm39)	missense	probably damaging	1.00
R1726:Gm5134	UTSW	10	75,828,361 (GRCm39)	missense	possibly damaging	0.83
R1918:Gm5134	UTSW	10	75,812,180 (GRCm39)	missense	possibly damaging	0.70
R1956:Gm5134	UTSW	10	75,840,680 (GRCm39)	missense	possibly damaging	0.89
R1993:Gm5134	UTSW	10	75,802,227 (GRCm39)	missense	probably damaging	0.96
R2049:Gm5134	UTSW	10	75,840,718 (GRCm39)	missense	possibly damaging	0.92
R2188:Gm5134	UTSW	10	75,831,670 (GRCm39)	missense	probably damaging	1.00
R3551:Gm5134	UTSW	10	75,836,281 (GRCm39)	missense	probably benign	0.08
R4074:Gm5134	UTSW	10	75,844,365 (GRCm39)	missense	probably damaging	1.00
R4435:Gm5134	UTSW	10	75,831,658 (GRCm39)	missense	probably damaging	1.00
R4466:Gm5134	UTSW	10	75,844,409 (GRCm39)	missense	probably benign	0.00
R5446:Gm5134	UTSW	10	75,831,670 (GRCm39)	missense	probably damaging	1.00
R5601:Gm5134	UTSW	10	75,821,786 (GRCm39)	missense	probably damaging	0.98
R5627:Gm5134	UTSW	10	75,821,942 (GRCm39)	missense	possibly damaging	0.93
R5777:Gm5134	UTSW	10	75,840,594 (GRCm39)	missense	probably benign	0.00
R5867:Gm5134	UTSW	10	75,844,450 (GRCm39)	missense	probably benign	0.00
R6145:Gm5134	UTSW	10	75,831,673 (GRCm39)	missense	probably damaging	0.99
R6232:Gm5134	UTSW	10	75,821,859 (GRCm39)	missense	possibly damaging	0.95
R6271:Gm5134	UTSW	10	75,831,643 (GRCm39)	missense	probably benign	0.32
R6329:Gm5134	UTSW	10	75,790,494 (GRCm39)	missense	possibly damaging	0.68
R6723:Gm5134	UTSW	10	75,844,453 (GRCm39)	missense	probably benign
R7049:Gm5134	UTSW	10	75,828,292 (GRCm39)	missense	probably damaging	0.97
R7305:Gm5134	UTSW	10	75,836,233 (GRCm39)	missense	probably damaging	1.00
R7579:Gm5134	UTSW	10	75,800,271 (GRCm39)	missense	probably damaging	1.00
R9190:Gm5134	UTSW	10	75,844,645 (GRCm39)	missense	probably damaging	1.00
R9716:Gm5134	UTSW	10	75,821,943 (GRCm39)	missense	probably benign	0.27
R9718:Gm5134	UTSW	10	75,828,331 (GRCm39)	missense	possibly damaging	0.90
X0050:Gm5134	UTSW	10	75,828,344 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTTGATGTCTGAGGCCCTAG -3'
(R):5'- AGAGGTACCTCCGACCATTATTC -3'

Sequencing Primer
(F):5'- TGGGTCCATAGCTTCACACAG -3'
(R):5'- CTTCGTGACATCTACAGACTTGGG -3'

Posted On

2016-07-06