Mutagenetix > Incidental Mutation

Incidental Mutation 'R4974:Gm4787'

382513

Institutional Source

Beutler Lab

Gene Symbol

Gm4787

Ensembl Gene

ENSMUSG00000072974

Gene Name

predicted gene 4787

Synonyms

MMRRC Submission

042569-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R4974 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

81423765-81426238 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 81424403 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 585 (I585T)

Ref Sequence

ENSEMBL: ENSMUSP00000077390 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062182] [ENSMUST00000110340] [ENSMUST00000164386] [ENSMUST00000166723]

AlphaFold

B2RUD9

Predicted Effect

probably damaging
Transcript: ENSMUST00000062182
AA Change: I585T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000077390
Gene: ENSMUSG00000072974
AA Change: I585T

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
Pfam:Pep_M12B_propep	46	163	1.5e-19	PFAM
Pfam:Reprolysin	213	406	4.6e-18	PFAM
DISIN	425	500	2e-33	SMART
ACR	501	644	2.83e-53	SMART
transmembrane domain	714	736	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000087222

Predicted Effect

probably benign
Transcript: ENSMUST00000110340

SMART Domains

Protein: ENSMUSP00000105969
Gene: ENSMUSG00000091803

Domain	Start	End	E-Value	Type
Pfam:COX16	16	74	6.6e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164386

SMART Domains

Protein: ENSMUSP00000132941
Gene: ENSMUSG00000021139

Domain	Start	End	E-Value	Type
PDZ	21	100	6.16e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000166723

SMART Domains

Protein: ENSMUSP00000130935
Gene: ENSMUSG00000091803

Domain	Start	End	E-Value	Type
Pfam:COX16	16	73	6.9e-16	PFAM

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 94.2%

Validation Efficiency

97% (94/97)

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730061H03Rik	C	T	14: 55,797,574 (GRCm39)		probably benign	Het
Acsf2	A	C	11: 94,460,155 (GRCm39)	M399R	possibly damaging	Het
Adra2c	C	A	5: 35,438,268 (GRCm39)	R347S	probably benign	Het
Akap9	A	G	5: 4,011,466 (GRCm39)	K723R	possibly damaging	Het
Anxa9	A	C	3: 95,215,324 (GRCm39)		probably benign	Het
Aqr	T	C	2: 113,943,832 (GRCm39)	H1102R	probably damaging	Het
Armh3	A	T	19: 45,808,726 (GRCm39)	F655Y	probably damaging	Het
Arrdc2	A	G	8: 71,290,162 (GRCm39)	V173A	probably benign	Het
Aspm	T	C	1: 139,405,748 (GRCm39)	V1545A	probably benign	Het
Bbs5	C	T	2: 69,477,578 (GRCm39)		probably benign	Het
Bnip2	A	G	9: 69,910,716 (GRCm39)	T255A	possibly damaging	Het
Cacna1b	T	C	2: 24,538,535 (GRCm39)	T1531A	probably damaging	Het
Cast	T	C	13: 74,955,942 (GRCm39)	K9R	probably benign	Het
Cfap46	A	T	7: 139,187,104 (GRCm39)		probably null	Het
Cfap57	G	T	4: 118,450,251 (GRCm39)	L624M	probably damaging	Het
Cyp2c39	A	T	19: 39,552,323 (GRCm39)	M339L	probably benign	Het
Dcst1	T	A	3: 89,265,110 (GRCm39)	T247S	probably benign	Het
Dnajc18	T	A	18: 35,816,372 (GRCm39)	I189F	possibly damaging	Het
Eef2kmt	T	C	16: 5,066,876 (GRCm39)	T126A	probably benign	Het
Epha2	A	G	4: 141,049,016 (GRCm39)	E624G	probably damaging	Het
Erbb3	G	A	10: 128,408,317 (GRCm39)	H866Y	probably benign	Het
F13a1	C	T	13: 37,100,837 (GRCm39)		probably null	Het
Fgd3	T	A	13: 49,432,078 (GRCm39)	N392I	probably damaging	Het
Fgf7	A	T	2: 125,930,160 (GRCm39)	M98L	probably benign	Het
G2e3	T	A	12: 51,415,922 (GRCm39)	S553T	probably benign	Het
Glipr1	C	A	10: 111,829,411 (GRCm39)	E117*	probably null	Het
Gm11060	A	T	2: 104,924,128 (GRCm39)		probably benign	Het
Gm6055	A	T	14: 48,316,915 (GRCm39)		noncoding transcript	Het
Gpbar1	TACCAC	TAC	1: 74,318,704 (GRCm39)		probably benign	Het
Gpt2	T	A	8: 86,246,068 (GRCm39)		probably benign	Het
Gtf2ird1	A	T	5: 134,386,685 (GRCm39)	Y345*	probably null	Het
Hmcn1	T	A	1: 150,695,200 (GRCm39)	T235S	probably benign	Het
Igkv5-48	A	G	6: 69,703,738 (GRCm39)	Y56H	possibly damaging	Het
Il17re	C	T	6: 113,446,530 (GRCm39)	T427I	probably benign	Het
Itpr3	A	T	17: 27,302,582 (GRCm39)	D80V	probably damaging	Het
Kif21a	G	T	15: 90,833,213 (GRCm39)	H1317N	probably benign	Het
Kif28	T	C	1: 179,526,209 (GRCm39)	K144E	probably damaging	Het
Kif4-ps	A	C	12: 101,113,330 (GRCm39)		noncoding transcript	Het
Klk1b11	C	T	7: 43,427,160 (GRCm39)	T148I	probably damaging	Het
Klkb1	T	A	8: 45,739,995 (GRCm39)	H99L	probably damaging	Het
Kpna6	A	C	4: 129,550,198 (GRCm39)		probably null	Het
Lama3	G	T	18: 12,685,883 (GRCm39)	K1132N	probably damaging	Het
Lcp1	T	A	14: 75,445,911 (GRCm39)	L264*	probably null	Het
Map2	T	C	1: 66,452,664 (GRCm39)	V360A	probably benign	Het
Med13	A	T	11: 86,189,673 (GRCm39)	S1079T	probably damaging	Het
Mettl13	A	G	1: 162,364,789 (GRCm39)	M162T	probably damaging	Het
Mppe1	T	G	18: 67,361,133 (GRCm39)	E208A	probably benign	Het
Msantd2	A	C	9: 37,400,675 (GRCm39)	K19T	possibly damaging	Het
Mylk3	A	G	8: 86,091,412 (GRCm39)	V131A	probably damaging	Het
Myocd	A	T	11: 65,074,299 (GRCm39)	S609T	possibly damaging	Het
Ncbp3	G	A	11: 72,944,355 (GRCm39)		probably null	Het
Neb	T	A	2: 52,136,871 (GRCm39)	L3203F	probably damaging	Het
Notch2	C	A	3: 98,046,949 (GRCm39)	T1756K	probably benign	Het
Nphp4	A	T	4: 152,622,250 (GRCm39)	R544W	probably damaging	Het
Or3a1c	A	T	11: 74,046,745 (GRCm39)	Y255F	probably benign	Het
Or4p18	T	G	2: 88,232,756 (GRCm39)	H174P	probably damaging	Het
Or5c1	A	T	2: 37,222,578 (GRCm39)	D273V	probably damaging	Het
Parp4	T	A	14: 56,827,355 (GRCm39)	V163E	possibly damaging	Het
Pcdhgb1	C	A	18: 37,815,425 (GRCm39)	Q639K	probably benign	Het
Pcnx2	A	G	8: 126,577,869 (GRCm39)	V936A	probably benign	Het
Pcsk7	T	A	9: 45,830,160 (GRCm39)	M418K	probably damaging	Het
Pglyrp4	T	C	3: 90,640,314 (GRCm39)	I188T	probably benign	Het
Pgs1	A	G	11: 117,896,345 (GRCm39)	R339G	probably benign	Het
Pik3r3	A	G	4: 116,143,388 (GRCm39)	I294V	probably benign	Het
Pik3r6	A	G	11: 68,430,771 (GRCm39)	D520G	probably damaging	Het
Pkdrej	A	G	15: 85,704,610 (GRCm39)	V442A	probably benign	Het
Ppfibp1	T	A	6: 146,931,917 (GRCm39)		probably benign	Het
Ppp3ca	C	A	3: 136,640,810 (GRCm39)	Q454K	possibly damaging	Het
Ppp5c	A	T	7: 16,743,861 (GRCm39)	M191K	probably damaging	Het
Prl4a1	A	T	13: 28,207,308 (GRCm39)	Y194F	possibly damaging	Het
Ptpn21	G	T	12: 98,646,362 (GRCm39)	T1032K	probably damaging	Het
Ptprh	A	T	7: 4,554,006 (GRCm39)		probably null	Het
Ptprm	T	A	17: 66,985,062 (GRCm39)	R1447S	probably benign	Het
Pxk	T	A	14: 8,140,734 (GRCm38)	D236E	probably damaging	Het
Qars1	T	C	9: 108,386,130 (GRCm39)	F107S	probably damaging	Het
Rbbp6	A	G	7: 122,599,031 (GRCm39)		probably benign	Het
Rptor	A	T	11: 119,712,466 (GRCm39)		probably benign	Het
Rtn4	T	A	11: 29,690,994 (GRCm39)	M1095K	probably damaging	Het
Serpinb3b	T	A	1: 107,082,445 (GRCm39)	H273L	probably benign	Het
Sgce	G	A	6: 4,689,630 (GRCm39)	T401M	probably benign	Het
Slc12a6	C	T	2: 112,188,870 (GRCm39)	R1083W	probably damaging	Het
Slc45a4	A	T	15: 73,456,299 (GRCm39)	M635K	probably damaging	Het
Slc6a1	T	A	6: 114,284,662 (GRCm39)	V240D	probably damaging	Het
Snx9	G	A	17: 5,952,794 (GRCm39)		probably null	Het
Spred3	A	G	7: 28,867,249 (GRCm39)	V49A	probably damaging	Het
Tars1	A	G	15: 11,390,477 (GRCm39)	F334S	probably damaging	Het
Tdpoz1	A	G	3: 93,578,454 (GRCm39)	V110A	probably benign	Het
Tfrc	T	G	16: 32,437,097 (GRCm39)	V252G	probably damaging	Het
Tm6sf2	T	C	8: 70,528,128 (GRCm39)		probably benign	Het
Txlnb	T	C	10: 17,714,717 (GRCm39)	V383A	probably damaging	Het
Utp20	C	A	10: 88,652,811 (GRCm39)	V368L	probably benign	Het
Vmn2r12	A	T	5: 109,239,372 (GRCm39)	V397E	probably damaging	Het
Zdhhc12	G	A	2: 29,981,538 (GRCm39)	R175W	probably damaging	Het
Zfyve9	A	G	4: 108,538,097 (GRCm39)		probably null	Het

Other mutations in Gm4787

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01719:Gm4787	APN	12	81,423,948 (GRCm39)	missense	possibly damaging	0.50
IGL01916:Gm4787	APN	12	81,424,218 (GRCm39)	missense	probably benign	0.36
IGL02193:Gm4787	APN	12	81,425,302 (GRCm39)	missense	probably benign	0.02
IGL02623:Gm4787	APN	12	81,425,502 (GRCm39)	missense	probably damaging	1.00
IGL02681:Gm4787	APN	12	81,425,543 (GRCm39)	missense	possibly damaging	0.88
IGL03257:Gm4787	APN	12	81,424,826 (GRCm39)	missense	probably damaging	1.00
IGL03410:Gm4787	APN	12	81,425,948 (GRCm39)	missense	probably damaging	1.00
F5770:Gm4787	UTSW	12	81,424,341 (GRCm39)	nonsense	probably null
PIT4362001:Gm4787	UTSW	12	81,423,949 (GRCm39)	missense	probably benign
R0070:Gm4787	UTSW	12	81,425,840 (GRCm39)	missense	probably damaging	1.00
R0128:Gm4787	UTSW	12	81,424,521 (GRCm39)	nonsense	probably null
R0220:Gm4787	UTSW	12	81,425,422 (GRCm39)	missense	probably damaging	0.98
R0304:Gm4787	UTSW	12	81,425,708 (GRCm39)	missense	probably damaging	1.00
R0513:Gm4787	UTSW	12	81,425,086 (GRCm39)	missense	probably benign	0.03
R1761:Gm4787	UTSW	12	81,423,950 (GRCm39)	missense	probably benign	0.02
R1809:Gm4787	UTSW	12	81,425,303 (GRCm39)	missense	possibly damaging	0.91
R1853:Gm4787	UTSW	12	81,425,108 (GRCm39)	missense	probably damaging	1.00
R1854:Gm4787	UTSW	12	81,425,108 (GRCm39)	missense	probably damaging	1.00
R2030:Gm4787	UTSW	12	81,425,544 (GRCm39)	missense	probably damaging	1.00
R2063:Gm4787	UTSW	12	81,425,694 (GRCm39)	missense	probably benign	0.39
R2112:Gm4787	UTSW	12	81,424,607 (GRCm39)	missense	probably damaging	1.00
R2140:Gm4787	UTSW	12	81,425,336 (GRCm39)	missense	probably benign	0.03
R2151:Gm4787	UTSW	12	81,423,993 (GRCm39)	missense	probably benign	0.00
R2152:Gm4787	UTSW	12	81,423,993 (GRCm39)	missense	probably benign	0.00
R2342:Gm4787	UTSW	12	81,425,532 (GRCm39)	missense	possibly damaging	0.91
R2504:Gm4787	UTSW	12	81,425,911 (GRCm39)	missense	possibly damaging	0.93
R4038:Gm4787	UTSW	12	81,425,132 (GRCm39)	missense	probably damaging	1.00
R4604:Gm4787	UTSW	12	81,425,987 (GRCm39)	missense	probably benign	0.17
R4748:Gm4787	UTSW	12	81,424,830 (GRCm39)	missense	probably damaging	1.00
R4750:Gm4787	UTSW	12	81,425,141 (GRCm39)	missense	possibly damaging	0.95
R4928:Gm4787	UTSW	12	81,425,612 (GRCm39)	missense	probably benign	0.03
R4960:Gm4787	UTSW	12	81,426,090 (GRCm39)	missense	probably damaging	0.99
R5028:Gm4787	UTSW	12	81,424,604 (GRCm39)	missense	probably benign	0.01
R5029:Gm4787	UTSW	12	81,424,604 (GRCm39)	missense	probably benign	0.01
R5031:Gm4787	UTSW	12	81,424,604 (GRCm39)	missense	probably benign	0.01
R5098:Gm4787	UTSW	12	81,424,604 (GRCm39)	missense	probably benign	0.01
R5099:Gm4787	UTSW	12	81,424,604 (GRCm39)	missense	probably benign	0.01
R5100:Gm4787	UTSW	12	81,424,604 (GRCm39)	missense	probably benign	0.01
R5101:Gm4787	UTSW	12	81,424,604 (GRCm39)	missense	probably benign	0.01
R5135:Gm4787	UTSW	12	81,424,604 (GRCm39)	missense	probably benign	0.01
R5152:Gm4787	UTSW	12	81,425,451 (GRCm39)	missense	probably benign	0.02
R5180:Gm4787	UTSW	12	81,424,604 (GRCm39)	missense	probably benign	0.01
R5220:Gm4787	UTSW	12	81,424,604 (GRCm39)	missense	probably benign	0.01
R5257:Gm4787	UTSW	12	81,424,604 (GRCm39)	missense	probably benign	0.01
R5258:Gm4787	UTSW	12	81,424,604 (GRCm39)	missense	probably benign	0.01
R5297:Gm4787	UTSW	12	81,424,604 (GRCm39)	missense	probably benign	0.01
R5324:Gm4787	UTSW	12	81,424,604 (GRCm39)	missense	probably benign	0.01
R5325:Gm4787	UTSW	12	81,424,604 (GRCm39)	missense	probably benign	0.01
R5355:Gm4787	UTSW	12	81,424,239 (GRCm39)	nonsense	probably null
R5364:Gm4787	UTSW	12	81,424,604 (GRCm39)	missense	probably benign	0.01
R5396:Gm4787	UTSW	12	81,424,604 (GRCm39)	missense	probably benign	0.01
R5397:Gm4787	UTSW	12	81,424,604 (GRCm39)	missense	probably benign	0.01
R5398:Gm4787	UTSW	12	81,424,604 (GRCm39)	missense	probably benign	0.01
R5514:Gm4787	UTSW	12	81,425,102 (GRCm39)	missense	possibly damaging	0.90
R5634:Gm4787	UTSW	12	81,424,604 (GRCm39)	missense	probably benign	0.01
R5666:Gm4787	UTSW	12	81,424,805 (GRCm39)	missense	probably benign	0.23
R5670:Gm4787	UTSW	12	81,424,805 (GRCm39)	missense	probably benign	0.23
R5787:Gm4787	UTSW	12	81,424,604 (GRCm39)	missense	probably benign	0.01
R5788:Gm4787	UTSW	12	81,424,604 (GRCm39)	missense	probably benign	0.01
R6354:Gm4787	UTSW	12	81,424,755 (GRCm39)	missense	probably damaging	1.00
R6932:Gm4787	UTSW	12	81,425,974 (GRCm39)	missense	probably benign	0.04
R7120:Gm4787	UTSW	12	81,425,260 (GRCm39)	missense	probably benign	0.00
R7237:Gm4787	UTSW	12	81,424,442 (GRCm39)	missense	probably damaging	0.99
R7937:Gm4787	UTSW	12	81,424,679 (GRCm39)	missense	probably benign	0.01
R8022:Gm4787	UTSW	12	81,424,494 (GRCm39)	missense	possibly damaging	0.94
R8140:Gm4787	UTSW	12	81,424,925 (GRCm39)	missense	probably benign	0.00
R8314:Gm4787	UTSW	12	81,425,909 (GRCm39)	missense	probably damaging	1.00
R8480:Gm4787	UTSW	12	81,424,280 (GRCm39)	missense	probably damaging	1.00
R8498:Gm4787	UTSW	12	81,425,840 (GRCm39)	missense	probably damaging	1.00
R8515:Gm4787	UTSW	12	81,424,043 (GRCm39)	missense	probably benign	0.00
R9103:Gm4787	UTSW	12	81,425,489 (GRCm39)	missense	probably benign	0.06
R9457:Gm4787	UTSW	12	81,426,020 (GRCm39)	missense	probably damaging	1.00
R9557:Gm4787	UTSW	12	81,426,074 (GRCm39)	nonsense	probably null
R9608:Gm4787	UTSW	12	81,425,086 (GRCm39)	missense	probably benign	0.03
V7580:Gm4787	UTSW	12	81,424,341 (GRCm39)	nonsense	probably null
V7581:Gm4787	UTSW	12	81,424,341 (GRCm39)	nonsense	probably null
V7582:Gm4787	UTSW	12	81,424,341 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CACACCCCTCTGAAGTTACATG -3'
(R):5'- ACCGTCATTTGCAGTGTCAAG -3'

Sequencing Primer
(F):5'- AGCCCTATTTCTGGAAGG -3'
(R):5'- GTGTCAAGCTCTTTTTGGATACCAAG -3'

Posted On

2016-04-27