Mutagenetix > Incidental Mutation

Incidental Mutation 'R5325:Gm4787'

421908

Institutional Source

Beutler Lab

Gene Symbol

Gm4787

Ensembl Gene

ENSMUSG00000072974

Gene Name

predicted gene 4787

Synonyms

MMRRC Submission

042908-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R5325 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

81376991-81379464 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 81377830 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 518 (T518S)

Ref Sequence

ENSEMBL: ENSMUSP00000077390 (fasta)

Gene Model

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

AlphaFold

B2RUD9

Predicted Effect

probably benign
Transcript: ENSMUST00000062182
AA Change: T518S

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000077390
Gene: ENSMUSG00000072974
AA Change: T518S

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

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.0%

Validation Efficiency

98% (55/56)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace3	T	A	11: 106,005,253	M675K	probably benign	Het
Ccdc186	A	T	19: 56,813,181	I168N	probably damaging	Het
Ccnb1	C	G	13: 100,781,775	Q121H	possibly damaging	Het
Cep83	A	G	10: 94,737,906	E219G	probably damaging	Het
Ctsj	T	C	13: 61,004,025	T73A	possibly damaging	Het
Ddr2	T	A	1: 170,001,837	T283S	probably benign	Het
Ehbp1	T	A	11: 22,095,370	D768V	possibly damaging	Het
Evpl	T	C	11: 116,221,365	D1833G	probably damaging	Het
Exoc1	A	G	5: 76,537,702	N87S	probably benign	Het
Fam98b	A	C	2: 117,270,651	I315L	possibly damaging	Het
Fancg	A	G	4: 43,006,564	V330A	probably damaging	Het
Fbxo30	G	A	10: 11,291,102	V523I	possibly damaging	Het
Fbxw27	A	G	9: 109,770,093	C419R	probably damaging	Het
Flt3	C	A	5: 147,375,649	V161L	probably benign	Het
Fndc7	G	A	3: 108,883,449	T87I	probably damaging	Het
Gm6457	A	T	18: 14,570,441		noncoding transcript	Het
Gm7075	A	G	10: 63,421,679	S21P	probably benign	Het
Gpr63	T	C	4: 25,007,294	V6A	probably benign	Het
Grhl3	T	A	4: 135,559,104	K89*	probably null	Het
H2-M10.2	C	A	17: 36,285,579	V125L	probably benign	Het
Hrh4	C	T	18: 13,021,997	Q198*	probably null	Het
Lrch4	A	G	5: 137,637,906	E373G	probably damaging	Het
Mroh9	C	G	1: 163,060,760	G249R	probably damaging	Het
Noa1	A	C	5: 77,304,195	D547E	probably damaging	Het
Nr2e1	G	A	10: 42,572,784	R153W	probably damaging	Het
Nudt9	A	C	5: 104,050,621	M1L	possibly damaging	Het
Odf2	T	A	2: 29,912,571	D282E	probably benign	Het
Olfr522	T	A	7: 140,162,113	Y279F	probably damaging	Het
Olfr539	C	A	7: 140,667,792	H168Q	probably benign	Het
Olfr908	A	T	9: 38,516,158	N42I	probably damaging	Het
Osbpl5	C	G	7: 143,691,928	A816P	probably damaging	Het
Pan2	T	C	10: 128,317,634	I924T	possibly damaging	Het
Ppat	A	G	5: 76,928,422		probably benign	Het
Rad50	T	G	11: 53,692,863	I364L	probably benign	Het
Robo2	A	G	16: 73,973,785	I484T	possibly damaging	Het
Ryr2	A	T	13: 11,690,363	M2839K	probably damaging	Het
Sin3b	A	G	8: 72,750,526	D807G	probably damaging	Het
Sirpb1a	G	A	3: 15,411,443	T98I	possibly damaging	Het
Smim17	G	A	7: 6,429,322	V88M	probably damaging	Het
Spib	T	C	7: 44,528,081	T229A	probably damaging	Het
St14	A	T	9: 31,096,978		probably null	Het
Syne4	A	T	7: 30,318,976	Y381F	probably damaging	Het
Sytl1	T	C	4: 133,261,071		probably benign	Het
Tnpo3	A	C	6: 29,602,013		probably benign	Het
Trim12a	T	A	7: 104,304,206	I233F	probably damaging	Het
Tspan1	T	A	4: 116,164,339	N82Y	probably damaging	Het
Vmn1r60	T	A	7: 5,544,202	M300L	probably benign	Het
Wdr17	G	A	8: 54,659,681	A788V	possibly damaging	Het
Wwtr1	A	T	3: 57,575,237	V63E	probably benign	Het
Ylpm1	A	G	12: 85,013,961		probably benign	Het
Zfp956	T	C	6: 47,951,078		probably benign	Het

Other mutations in Gm4787

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01719:Gm4787	APN	12	81377174	missense	possibly damaging	0.50
IGL01916:Gm4787	APN	12	81377444	missense	probably benign	0.36
IGL02193:Gm4787	APN	12	81378528	missense	probably benign	0.02
IGL02623:Gm4787	APN	12	81378728	missense	probably damaging	1.00
IGL02681:Gm4787	APN	12	81378769	missense	possibly damaging	0.88
IGL03257:Gm4787	APN	12	81378052	missense	probably damaging	1.00
IGL03410:Gm4787	APN	12	81379174	missense	probably damaging	1.00
F5770:Gm4787	UTSW	12	81377567	nonsense	probably null
PIT4362001:Gm4787	UTSW	12	81377175	missense	probably benign
R0070:Gm4787	UTSW	12	81379066	missense	probably damaging	1.00
R0128:Gm4787	UTSW	12	81377747	nonsense	probably null
R0220:Gm4787	UTSW	12	81378648	missense	probably damaging	0.98
R0304:Gm4787	UTSW	12	81378934	missense	probably damaging	1.00
R0513:Gm4787	UTSW	12	81378312	missense	probably benign	0.03
R1761:Gm4787	UTSW	12	81377176	missense	probably benign	0.02
R1809:Gm4787	UTSW	12	81378529	missense	possibly damaging	0.91
R1853:Gm4787	UTSW	12	81378334	missense	probably damaging	1.00
R1854:Gm4787	UTSW	12	81378334	missense	probably damaging	1.00
R2030:Gm4787	UTSW	12	81378770	missense	probably damaging	1.00
R2063:Gm4787	UTSW	12	81378920	missense	probably benign	0.39
R2112:Gm4787	UTSW	12	81377833	missense	probably damaging	1.00
R2140:Gm4787	UTSW	12	81378562	missense	probably benign	0.03
R2151:Gm4787	UTSW	12	81377219	missense	probably benign	0.00
R2152:Gm4787	UTSW	12	81377219	missense	probably benign	0.00
R2342:Gm4787	UTSW	12	81378758	missense	possibly damaging	0.91
R2504:Gm4787	UTSW	12	81379137	missense	possibly damaging	0.93
R4038:Gm4787	UTSW	12	81378358	missense	probably damaging	1.00
R4604:Gm4787	UTSW	12	81379213	missense	probably benign	0.17
R4748:Gm4787	UTSW	12	81378056	missense	probably damaging	1.00
R4750:Gm4787	UTSW	12	81378367	missense	possibly damaging	0.95
R4928:Gm4787	UTSW	12	81378838	missense	probably benign	0.03
R4960:Gm4787	UTSW	12	81379316	missense	probably damaging	0.99
R4974:Gm4787	UTSW	12	81377629	missense	probably damaging	0.99
R5028:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5029:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5031:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5098:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5099:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5100:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5101:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5135:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5152:Gm4787	UTSW	12	81378677	missense	probably benign	0.02
R5180:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5220:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5257:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5258:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5297:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5324:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5355:Gm4787	UTSW	12	81377465	nonsense	probably null
R5364:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5396:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5397:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5398:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5514:Gm4787	UTSW	12	81378328	missense	possibly damaging	0.90
R5634:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5666:Gm4787	UTSW	12	81378031	missense	probably benign	0.23
R5670:Gm4787	UTSW	12	81378031	missense	probably benign	0.23
R5787:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5788:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R6354:Gm4787	UTSW	12	81377981	missense	probably damaging	1.00
R6932:Gm4787	UTSW	12	81379200	missense	probably benign	0.04
R7120:Gm4787	UTSW	12	81378486	missense	probably benign	0.00
R7237:Gm4787	UTSW	12	81377668	missense	probably damaging	0.99
R7937:Gm4787	UTSW	12	81377905	missense	probably benign	0.01
R8022:Gm4787	UTSW	12	81377720	missense	possibly damaging	0.94
R8140:Gm4787	UTSW	12	81378151	missense	probably benign	0.00
R8314:Gm4787	UTSW	12	81379135	missense	probably damaging	1.00
R8480:Gm4787	UTSW	12	81377506	missense	probably damaging	1.00
R8498:Gm4787	UTSW	12	81379066	missense	probably damaging	1.00
R8515:Gm4787	UTSW	12	81377269	missense	probably benign	0.00
R9103:Gm4787	UTSW	12	81378715	missense	probably benign	0.06
R9457:Gm4787	UTSW	12	81379246	missense	probably damaging	1.00
R9557:Gm4787	UTSW	12	81379300	nonsense	probably null
V7580:Gm4787	UTSW	12	81377567	nonsense	probably null
V7581:Gm4787	UTSW	12	81377567	nonsense	probably null
V7582:Gm4787	UTSW	12	81377567	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AAGGTAGTGTGCTCACCTCC -3'
(R):5'- GCTGTCTATCTTGTAAGTTTGCACC -3'

Sequencing Primer
(F):5'- GCTTGACACCATCACAGTGGAG -3'
(R):5'- TGTAAGTTTGCACCCACTGGAAC -3'

Posted On

2016-08-04