Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03410:Gm4787'

421762

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm4787

Ensembl Gene

ENSMUSG00000072974

Gene Name

predicted gene 4787

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

IGL03410

Quality Score

Status

Chromosome

Chromosomal Location

81376991-81379464 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 81379174 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 70 (M70K)

Ref Sequence

ENSEMBL: ENSMUSP00000077390 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000062182
AA Change: M70K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000077390
Gene: ENSMUSG00000072974
AA Change: M70K

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

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	A	17: 9,001,896	V409E	probably damaging	Het
1700086D15Rik	A	G	11: 65,152,567		probably benign	Het
Apba1	A	G	19: 23,937,581	N715S	possibly damaging	Het
Arfgef3	G	T	10: 18,600,490	A1527D	probably damaging	Het
Cmtm2a	G	T	8: 104,283,869	P133T	probably damaging	Het
Cyp2d9	T	C	15: 82,456,699	V483A	probably benign	Het
Dclre1b	T	A	3: 103,808,140	D14V	probably damaging	Het
Dock5	T	C	14: 67,846,086	I125V	probably benign	Het
Dok3	G	T	13: 55,524,231	Y211*	probably null	Het
Fat4	T	C	3: 38,891,176	V1406A	probably damaging	Het
Fbn2	A	G	18: 58,050,243	F1790S	possibly damaging	Het
Gm13083	C	A	4: 143,615,281	H93Q	probably benign	Het
Gulp1	A	T	1: 44,708,617	D10V	probably damaging	Het
Hagh	T	C	17: 24,860,942		probably benign	Het
Htt	A	G	5: 34,799,445	E206G	probably damaging	Het
Hyou1	A	G	9: 44,388,058	E682G	probably benign	Het
Igkv4-59	G	T	6: 69,438,466	A35E	probably damaging	Het
Krt78	A	G	15: 101,953,986	V80A	probably damaging	Het
Lars2	G	A	9: 123,418,776	A333T	possibly damaging	Het
Lrrc4	G	A	6: 28,830,516	R367W	probably damaging	Het
Med1	A	T	11: 98,189,183	M44K	possibly damaging	Het
Mep1a	T	A	17: 43,478,095		probably null	Het
Mmrn1	A	G	6: 60,975,835	I367V	probably benign	Het
Myo18a	T	C	11: 77,848,004	L1677P	probably damaging	Het
Neb	T	C	2: 52,319,705	T246A	probably benign	Het
Nkiras1	A	G	14: 18,280,073	R155G	probably benign	Het
Nrip1	T	C	16: 76,292,491	N726S	probably benign	Het
Nyap2	A	G	1: 81,241,441	T393A	possibly damaging	Het
Olfr1029	T	A	2: 85,975,420	M59K	probably damaging	Het
Olfr1272	A	G	2: 90,282,213	Y121H	probably damaging	Het
Olfr32	G	A	2: 90,139,145		probably benign	Het
Oprm1	A	T	10: 6,830,051	I238F	probably damaging	Het
Pcnx2	T	A	8: 125,887,040	E557D	probably damaging	Het
Pole	A	G	5: 110,324,559	I1563V	probably benign	Het
Prdx3	T	G	19: 60,871,410		probably benign	Het
Rgsl1	C	T	1: 153,793,755	R295K	probably null	Het
Rhbdl2	T	A	4: 123,829,670	L289*	probably null	Het
Rnps1	A	G	17: 24,421,861		probably benign	Het
Rpgrip1	A	G	14: 52,158,366		probably benign	Het
Ryr2	A	T	13: 11,588,147	Y4518N	probably damaging	Het
Scyl3	A	G	1: 163,944,867	N296S	probably damaging	Het
Sipa1l3	G	A	7: 29,348,539	T1308M	probably damaging	Het
Slc39a9	A	G	12: 80,644,888	D3G	probably damaging	Het
Slc4a9	A	G	18: 36,529,687	E165G	probably benign	Het
Slc6a3	A	T	13: 73,538,657	I48F	probably benign	Het
Stxbp3	C	T	3: 108,802,160	C354Y	probably damaging	Het
Terb1	C	A	8: 104,473,042		probably benign	Het
Tfrc	G	A	16: 32,624,831		probably null	Het
Toporsl	A	C	4: 52,611,134	R342S	probably benign	Het
Ttc26	T	C	6: 38,385,500	L70P	probably damaging	Het
Ube2d3	T	A	3: 135,465,217	W141R	probably damaging	Het
Vps13b	G	T	15: 35,910,340	V3417L	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
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
R5325: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
V7580:Gm4787	UTSW	12	81377567	nonsense	probably null
V7581:Gm4787	UTSW	12	81377567	nonsense	probably null
V7582:Gm4787	UTSW	12	81377567	nonsense	probably null

Posted On

2016-08-02