Mutagenetix > Incidental Mutation

Incidental Mutation 'R4074:Gm5134'

316475

Institutional Source

Beutler Lab

Gene Symbol

Gm5134

Ensembl Gene

ENSMUSG00000033255

Gene Name

predicted gene 5134

Synonyms

MMRRC Submission

040855-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.123) question?

Stock #

R4074 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75954514-76009591 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 76008531 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 574 (W574R)

Ref Sequence

ENSEMBL: ENSMUSP00000097172 (fasta)

Gene Model

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

AlphaFold

E9QAB5

Predicted Effect

probably damaging
Transcript: ENSMUST00000099577
AA Change: W574R

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

SMART Domains

Protein: ENSMUSP00000097172
Gene: ENSMUSG00000033255
AA Change: W574R

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: ENSMUST00000184957

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

95% (63/66)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	T	C	2: 19,480,590	E422G	probably damaging	Het
5830473C10Rik	T	A	5: 90,592,868		probably null	Het
8430408G22Rik	A	G	6: 116,652,068	N124S	possibly damaging	Het
Ace3	A	G	11: 105,997,214	Y287C	probably damaging	Het
Arfgap3	C	T	15: 83,303,129	A510T	probably damaging	Het
Atg12	A	G	18: 46,737,424	F92L	probably benign	Het
Axl	A	G	7: 25,763,911		probably benign	Het
Chgb	C	A	2: 132,793,927	D596E	possibly damaging	Het
Cmtr2	T	A	8: 110,221,217	F53Y	possibly damaging	Het
Cnot10	A	G	9: 114,622,947	F254L	possibly damaging	Het
Crb2	G	T	2: 37,786,843	C251F	probably damaging	Het
Crybg3	A	T	16: 59,555,757		probably benign	Het
Cytl1	A	G	5: 37,735,596	I17V	unknown	Het
D930020B18Rik	A	G	10: 121,656,218		probably benign	Het
Dnah11	A	G	12: 118,045,678	M2083T	probably benign	Het
Dst	A	G	1: 34,192,269	E2656G	probably benign	Het
Dst	T	C	1: 34,228,461	F4995L	probably damaging	Het
Egf	C	T	3: 129,735,969	R264Q	probably benign	Het
Eps15l1	A	G	8: 72,380,284	I482T	probably damaging	Het
Eqtn	A	G	4: 94,919,962	I201T	possibly damaging	Het
Ero1l	A	T	14: 45,292,436		probably null	Het
Etl4	T	C	2: 20,809,219		probably benign	Het
Fcho1	T	C	8: 71,710,369	H672R	probably damaging	Het
Glt6d1	T	C	2: 25,794,127	D289G	probably damaging	Het
Gm16427	A	T	5: 93,485,198	M50K	probably damaging	Het
Gm5346	A	T	8: 43,626,350	F279Y	probably damaging	Het
Gm5414	T	C	15: 101,625,553	N332D	probably benign	Het
Gnb3	T	A	6: 124,836,979	E215D	probably benign	Het
Ighv1-30	C	T	12: 114,817,401		noncoding transcript	Het
Ighv1-4	A	G	12: 114,487,527	S15P	possibly damaging	Het
Igkv1-133	T	G	6: 67,725,521	Y74*	probably null	Het
Il17f	G	A	1: 20,777,763		probably benign	Het
Itpr2	C	T	6: 146,373,244		probably null	Het
Krtap31-1	T	C	11: 99,908,232	I87T	possibly damaging	Het
Lilra6	A	T	7: 3,914,890	F85Y	probably benign	Het
Lrig3	C	T	10: 126,013,408	T999I	probably benign	Het
Myh7b	T	C	2: 155,618,758	I277T	probably damaging	Het
Myo3b	T	C	2: 70,289,464	F984S	probably damaging	Het
Naip5	G	A	13: 100,246,064	R46W	probably damaging	Het
Nup205	T	A	6: 35,192,040		probably null	Het
Olfr670	A	T	7: 104,960,716	N5K	probably damaging	Het
Pde11a	C	T	2: 76,337,898	R237H	probably damaging	Het
Pdk4	T	C	6: 5,491,865	N69S	probably benign	Het
Pot1a	T	C	6: 25,752,357		probably null	Het
Psg23	A	T	7: 18,607,118	S404T	possibly damaging	Het
Rev1	T	G	1: 38,054,238	K1075T	possibly damaging	Het
Rrbp1	T	G	2: 143,963,110	Q1045P	probably benign	Het
Scg2	A	C	1: 79,436,857	F50V	probably damaging	Het
Sel1l3	A	G	5: 53,154,287	Y619H	probably damaging	Het
Slco1a5	A	T	6: 142,268,224	I57K	possibly damaging	Het
Srp72	C	A	5: 76,998,251	T633K	probably benign	Het
Swt1	A	G	1: 151,394,769	V565A	probably benign	Het
Tesk1	A	G	4: 43,443,606	I58V	possibly damaging	Het
Tm2d3	T	A	7: 65,697,750	L49*	probably null	Het
Tmprss11e	T	C	5: 86,715,643	T188A	possibly damaging	Het
Tnxb	A	G	17: 34,671,871	N396S	probably benign	Het
Tuba8	T	A	6: 121,222,797	S147T	probably damaging	Het
Usp8	A	G	2: 126,752,370	D822G	probably damaging	Het
Vmn2r13	T	A	5: 109,156,700	I622F	probably damaging	Het
Vmn2r24	A	T	6: 123,787,415	H417L	possibly damaging	Het
Zfp608	A	T	18: 54,898,108	V920E	probably damaging	Het
Zmym2	T	C	14: 56,903,004	L100P	probably damaging	Het

Other mutations in Gm5134

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00941:Gm5134	APN	10	76000421	missense	possibly damaging	0.70
IGL01371:Gm5134	APN	10	76004747	missense	probably damaging	0.99
IGL02140:Gm5134	APN	10	75986111	missense	probably benign	0.03
IGL02197:Gm5134	APN	10	75954702	critical splice donor site	probably null
IGL02233:Gm5134	APN	10	76008500	critical splice acceptor site	probably null
IGL02612:Gm5134	APN	10	75992489	missense	probably damaging	1.00
IGL02896:Gm5134	APN	10	75974224	missense	possibly damaging	0.82
R0021:Gm5134	UTSW	10	75993884	missense	probably damaging	1.00
R0021:Gm5134	UTSW	10	75993884	missense	probably damaging	1.00
R0035:Gm5134	UTSW	10	75993864	missense	probably benign	0.01
R0035:Gm5134	UTSW	10	75993864	missense	probably benign	0.01
R0110:Gm5134	UTSW	10	75974245	missense	probably benign	0.03
R0499:Gm5134	UTSW	10	75992525	missense	probably benign	0.00
R0510:Gm5134	UTSW	10	75974245	missense	probably benign	0.03
R1429:Gm5134	UTSW	10	75978381	missense	probably damaging	1.00
R1726:Gm5134	UTSW	10	75992527	missense	possibly damaging	0.83
R1918:Gm5134	UTSW	10	75976346	missense	possibly damaging	0.70
R1956:Gm5134	UTSW	10	76004846	missense	possibly damaging	0.89
R1993:Gm5134	UTSW	10	75966393	missense	probably damaging	0.96
R2049:Gm5134	UTSW	10	76004884	missense	possibly damaging	0.92
R2188:Gm5134	UTSW	10	75995836	missense	probably damaging	1.00
R3551:Gm5134	UTSW	10	76000447	missense	probably benign	0.08
R4435:Gm5134	UTSW	10	75995824	missense	probably damaging	1.00
R4466:Gm5134	UTSW	10	76008575	missense	probably benign	0.00
R5180:Gm5134	UTSW	10	75976366	missense	probably damaging	1.00
R5446:Gm5134	UTSW	10	75995836	missense	probably damaging	1.00
R5601:Gm5134	UTSW	10	75985952	missense	probably damaging	0.98
R5627:Gm5134	UTSW	10	75986108	missense	possibly damaging	0.93
R5777:Gm5134	UTSW	10	76004760	missense	probably benign	0.00
R5867:Gm5134	UTSW	10	76008616	missense	probably benign	0.00
R6145:Gm5134	UTSW	10	75995839	missense	probably damaging	0.99
R6232:Gm5134	UTSW	10	75986025	missense	possibly damaging	0.95
R6271:Gm5134	UTSW	10	75995809	missense	probably benign	0.32
R6329:Gm5134	UTSW	10	75954660	missense	possibly damaging	0.68
R6723:Gm5134	UTSW	10	76008619	missense	probably benign
R7049:Gm5134	UTSW	10	75992458	missense	probably damaging	0.97
R7305:Gm5134	UTSW	10	76000399	missense	probably damaging	1.00
R7579:Gm5134	UTSW	10	75964437	missense	probably damaging	1.00
R9190:Gm5134	UTSW	10	76008811	missense	probably damaging	1.00
R9716:Gm5134	UTSW	10	75986109	missense	probably benign	0.27
R9718:Gm5134	UTSW	10	75992497	missense	possibly damaging	0.90
X0050:Gm5134	UTSW	10	75992510	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACCCAGTGATGTCTTAGTCG -3'
(R):5'- TCTTCCAGAAGAGGCTCTCG -3'

Sequencing Primer
(F):5'- ACCCAGTGATGTCTTAGTCGTTTTC -3'
(R):5'- AGAAGAGGCTCTCGGGTTC -3'

Posted On

2015-05-15