Mutagenetix > Incidental Mutation

Incidental Mutation 'R0035:Gm5134'

19425

Institutional Source

Beutler Lab

Gene Symbol

Gm5134

Ensembl Gene

ENSMUSG00000033255

Gene Name

predicted gene 5134

Synonyms

MMRRC Submission

038329-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

R0035 (G1)

Quality Score

223

Status

Validated (trace)

Chromosome

Chromosomal Location

75954514-76009591 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 75993864 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 328 (F328Y)

Ref Sequence

ENSEMBL: ENSMUSP00000097172 (fasta)

Gene Model

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

AlphaFold

E9QAB5

Predicted Effect

probably benign
Transcript: ENSMUST00000099577
AA Change: F328Y

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000097172
Gene: ENSMUSG00000033255
AA Change: F328Y

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: ENSMUST00000131874

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134234

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 97.8%
10x: 94.7%
20x: 87.1%

Validation Efficiency

99% (70/71)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110040N11Rik	T	C	7: 81,788,549 (GRCm38)	T20A	probably benign	Het
4932438A13Rik	T	A	3: 36,987,598 (GRCm38)	Y2708*	probably null	Het
9130011E15Rik	A	T	19: 45,891,240 (GRCm38)	M558K	probably damaging	Het
Aadacl4	A	G	4: 144,617,941 (GRCm38)	T96A	probably damaging	Het
Abcb6	A	G	1: 75,175,007 (GRCm38)	V473A	possibly damaging	Het
Abo	C	A	2: 26,843,373 (GRCm38)	K273N	possibly damaging	Het
Acvr1c	A	G	2: 58,315,779 (GRCm38)		probably benign	Het
Adcy8	A	T	15: 64,699,368 (GRCm38)	V1142D	probably benign	Het
Akna	T	A	4: 63,382,445 (GRCm38)	H591L	probably benign	Het
Aox2	T	C	1: 58,354,422 (GRCm38)	V1247A	probably benign	Het
Ap4b1	T	C	3: 103,820,664 (GRCm38)		probably benign	Het
Atm	A	G	9: 53,513,180 (GRCm38)	V607A	probably benign	Het
Cass4	C	T	2: 172,416,492 (GRCm38)	P137S	probably damaging	Het
Cfap53	A	G	18: 74,300,207 (GRCm38)	E121G	probably damaging	Het
Chmp6	T	C	11: 119,916,682 (GRCm38)	V31A	probably damaging	Het
Clec4a3	T	A	6: 122,967,549 (GRCm38)	Y185N	probably damaging	Het
Clic5	A	G	17: 44,275,313 (GRCm38)	T230A	probably damaging	Het
Clspn	G	T	4: 126,565,003 (GRCm38)		probably null	Het
Cntn1	T	A	15: 92,232,088 (GRCm38)		probably benign	Het
Col4a3	G	A	1: 82,672,753 (GRCm38)	G577R	unknown	Het
Defa21	T	A	8: 21,025,768 (GRCm38)		probably null	Het
Deup1	T	C	9: 15,599,821 (GRCm38)	R221G	possibly damaging	Het
Dnah8	A	T	17: 30,683,621 (GRCm38)		probably benign	Het
Dnase1l2	A	G	17: 24,441,075 (GRCm38)	V273A	probably damaging	Het
Golph3	A	T	15: 12,339,690 (GRCm38)	E96D	probably damaging	Het
Hspd1	A	G	1: 55,083,783 (GRCm38)	V151A	probably benign	Het
Htr1f	A	C	16: 64,926,497 (GRCm38)	I144S	probably damaging	Het
Il1f8	A	T	2: 24,159,878 (GRCm38)	H167L	probably benign	Het
Il23r	A	G	6: 67,473,788 (GRCm38)		probably benign	Het
Il25	A	G	14: 54,933,096 (GRCm38)	E42G	probably damaging	Het
Klrb1-ps1	C	T	6: 129,129,343 (GRCm38)	A149V	possibly damaging	Het
Kmt2e	T	A	5: 23,485,621 (GRCm38)		probably benign	Het
Ktn1	A	G	14: 47,730,379 (GRCm38)	N1167D	probably benign	Het
Lama4	T	A	10: 39,072,738 (GRCm38)	D832E	probably benign	Het
Map1b	A	G	13: 99,435,338 (GRCm38)	S292P	probably damaging	Het
Map6	C	T	7: 99,317,608 (GRCm38)	T345I	probably damaging	Het
Mark2	A	T	19: 7,284,652 (GRCm38)		probably benign	Het
Me3	C	A	7: 89,851,759 (GRCm38)	H559Q	probably benign	Het
Myo1b	A	G	1: 51,778,382 (GRCm38)	F574L	probably damaging	Het
Nos2	T	C	11: 78,945,727 (GRCm38)	S431P	probably damaging	Het
Nr1h5	T	A	3: 102,949,573 (GRCm38)	K208*	probably null	Het
Nup214	T	C	2: 31,990,367 (GRCm38)		probably null	Het
Obp2b	T	C	2: 25,738,633 (GRCm38)	L133P	probably damaging	Het
Olfr173	A	T	16: 58,797,122 (GRCm38)	C241*	probably null	Het
Olfr305	T	C	7: 86,364,187 (GRCm38)	D50G	possibly damaging	Het
Osbp2	C	T	11: 3,717,997 (GRCm38)		probably benign	Het
Ptafr	C	A	4: 132,579,553 (GRCm38)	L85I	probably benign	Het
Ptprk	T	A	10: 28,263,508 (GRCm38)	Y76*	probably null	Het
Rad50	A	G	11: 53,655,027 (GRCm38)		probably benign	Het
Rasef	G	T	4: 73,762,854 (GRCm38)		probably benign	Het
Slitrk6	A	T	14: 110,749,932 (GRCm38)	L781H	probably damaging	Het
Tbc1d1	T	A	5: 64,256,737 (GRCm38)	I18N	probably damaging	Het
Tbc1d17	T	C	7: 44,841,408 (GRCm38)	N587D	probably benign	Het
Trank1	A	T	9: 111,366,776 (GRCm38)	K1289N	probably benign	Het
Tspyl3	A	G	2: 153,224,320 (GRCm38)	S333P	probably damaging	Het
Ush2a	G	A	1: 188,356,888 (GRCm38)	V347I	probably benign	Het
Usp17le	G	T	7: 104,769,062 (GRCm38)	S291*	probably null	Het
Usp24	T	A	4: 106,368,027 (GRCm38)	S619T	probably benign	Het
Vmn2r10	T	C	5: 108,997,601 (GRCm38)		probably benign	Het
Vmn2r78	A	G	7: 86,920,205 (GRCm38)	E102G	probably benign	Het
Vwa3b	G	A	1: 37,165,689 (GRCm38)	V85I	possibly damaging	Het
Wwp1	A	C	4: 19,631,116 (GRCm38)	I639R	probably damaging	Het
Xpo5	A	G	17: 46,240,175 (GRCm38)	T1001A	probably benign	Het
Zc3h12c	A	T	9: 52,143,747 (GRCm38)	M235K	probably benign	Het
Zfp619	G	A	7: 39,537,282 (GRCm38)	G912D	probably damaging	Het

Other mutations in Gm5134

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00941:Gm5134	APN	10	76,000,421 (GRCm38)	missense	possibly damaging	0.70
IGL01371:Gm5134	APN	10	76,004,747 (GRCm38)	missense	probably damaging	0.99
IGL02140:Gm5134	APN	10	75,986,111 (GRCm38)	missense	probably benign	0.03
IGL02197:Gm5134	APN	10	75,954,702 (GRCm38)	critical splice donor site	probably null
IGL02233:Gm5134	APN	10	76,008,500 (GRCm38)	critical splice acceptor site	probably null
IGL02612:Gm5134	APN	10	75,992,489 (GRCm38)	missense	probably damaging	1.00
IGL02896:Gm5134	APN	10	75,974,224 (GRCm38)	missense	possibly damaging	0.82
R0021:Gm5134	UTSW	10	75,993,884 (GRCm38)	missense	probably damaging	1.00
R0021:Gm5134	UTSW	10	75,993,884 (GRCm38)	missense	probably damaging	1.00
R0035:Gm5134	UTSW	10	75,993,864 (GRCm38)	missense	probably benign	0.01
R0110:Gm5134	UTSW	10	75,974,245 (GRCm38)	missense	probably benign	0.03
R0499:Gm5134	UTSW	10	75,992,525 (GRCm38)	missense	probably benign	0.00
R0510:Gm5134	UTSW	10	75,974,245 (GRCm38)	missense	probably benign	0.03
R1429:Gm5134	UTSW	10	75,978,381 (GRCm38)	missense	probably damaging	1.00
R1726:Gm5134	UTSW	10	75,992,527 (GRCm38)	missense	possibly damaging	0.83
R1918:Gm5134	UTSW	10	75,976,346 (GRCm38)	missense	possibly damaging	0.70
R1956:Gm5134	UTSW	10	76,004,846 (GRCm38)	missense	possibly damaging	0.89
R1993:Gm5134	UTSW	10	75,966,393 (GRCm38)	missense	probably damaging	0.96
R2049:Gm5134	UTSW	10	76,004,884 (GRCm38)	missense	possibly damaging	0.92
R2188:Gm5134	UTSW	10	75,995,836 (GRCm38)	missense	probably damaging	1.00
R3551:Gm5134	UTSW	10	76,000,447 (GRCm38)	missense	probably benign	0.08
R4074:Gm5134	UTSW	10	76,008,531 (GRCm38)	missense	probably damaging	1.00
R4435:Gm5134	UTSW	10	75,995,824 (GRCm38)	missense	probably damaging	1.00
R4466:Gm5134	UTSW	10	76,008,575 (GRCm38)	missense	probably benign	0.00
R5180:Gm5134	UTSW	10	75,976,366 (GRCm38)	missense	probably damaging	1.00
R5446:Gm5134	UTSW	10	75,995,836 (GRCm38)	missense	probably damaging	1.00
R5601:Gm5134	UTSW	10	75,985,952 (GRCm38)	missense	probably damaging	0.98
R5627:Gm5134	UTSW	10	75,986,108 (GRCm38)	missense	possibly damaging	0.93
R5777:Gm5134	UTSW	10	76,004,760 (GRCm38)	missense	probably benign	0.00
R5867:Gm5134	UTSW	10	76,008,616 (GRCm38)	missense	probably benign	0.00
R6145:Gm5134	UTSW	10	75,995,839 (GRCm38)	missense	probably damaging	0.99
R6232:Gm5134	UTSW	10	75,986,025 (GRCm38)	missense	possibly damaging	0.95
R6271:Gm5134	UTSW	10	75,995,809 (GRCm38)	missense	probably benign	0.32
R6329:Gm5134	UTSW	10	75,954,660 (GRCm38)	missense	possibly damaging	0.68
R6723:Gm5134	UTSW	10	76,008,619 (GRCm38)	missense	probably benign
R7049:Gm5134	UTSW	10	75,992,458 (GRCm38)	missense	probably damaging	0.97
R7305:Gm5134	UTSW	10	76,000,399 (GRCm38)	missense	probably damaging	1.00
R7579:Gm5134	UTSW	10	75,964,437 (GRCm38)	missense	probably damaging	1.00
R9190:Gm5134	UTSW	10	76,008,811 (GRCm38)	missense	probably damaging	1.00
R9716:Gm5134	UTSW	10	75,986,109 (GRCm38)	missense	probably benign	0.27
R9718:Gm5134	UTSW	10	75,992,497 (GRCm38)	missense	possibly damaging	0.90
X0050:Gm5134	UTSW	10	75,992,510 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCAGCAGAAGGACAGAGCATTTGAC -3'
(R):5'- TGGTAAGGAAGCCATTCCTGGAGG -3'

Sequencing Primer
(F):5'- GACAGAGCATTTGACATCCTG -3'
(R):5'- TGGAGGCTCCTCTTACCTG -3'

Posted On

2013-04-11