Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02623:Gm4787'

300937

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm4787

Ensembl Gene

ENSMUSG00000072974

Gene Name

predicted gene 4787

Synonyms

Accession Numbers

Essential gene?

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

Stock #

IGL02623

Quality Score

Status

Chromosome

Chromosomal Location

81423765-81426238 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 81425502 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 219 (Y219H)

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: Y219H

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

SMART Domains

Protein: ENSMUSP00000077390
Gene: ENSMUSG00000072974
AA Change: Y219H

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438H23Rik	T	A	16: 90,853,032 (GRCm39)	I35F	probably benign	Het
Acad10	A	G	5: 121,767,993 (GRCm39)	V819A	possibly damaging	Het
Adgrd1	A	T	5: 129,209,809 (GRCm39)	N279Y	probably damaging	Het
Aplp2	C	A	9: 31,089,379 (GRCm39)		probably benign	Het
Armc8	T	C	9: 99,409,122 (GRCm39)		probably benign	Het
B3gnt5	A	G	16: 19,588,360 (GRCm39)	D193G	probably damaging	Het
Cacng1	A	G	11: 107,595,145 (GRCm39)	F144S	probably damaging	Het
Cfap91	T	A	16: 38,154,140 (GRCm39)	D135V	possibly damaging	Het
Dnm3	T	A	1: 162,183,001 (GRCm39)	T105S	probably damaging	Het
Efcab6	T	A	15: 83,763,649 (GRCm39)	I1228F	probably damaging	Het
Erc2	A	G	14: 27,498,937 (GRCm39)	D271G	probably damaging	Het
Fat3	T	C	9: 15,908,433 (GRCm39)	Y2523C	probably damaging	Het
Fhl4	A	G	10: 84,934,035 (GRCm39)	F249L	probably damaging	Het
Gm17782	T	C	17: 36,472,958 (GRCm39)		probably benign	Het
Hk1	A	G	10: 62,128,138 (GRCm39)	L328P	probably benign	Het
Hspa12a	T	A	19: 58,797,983 (GRCm39)	Y245F	probably benign	Het
Kbtbd12	T	C	6: 88,595,371 (GRCm39)	Y153C	probably damaging	Het
Kcnd2	A	T	6: 21,726,194 (GRCm39)	R562S	probably benign	Het
Lct	T	C	1: 128,235,988 (GRCm39)	S340G	probably benign	Het
Mettl25	C	A	10: 105,662,185 (GRCm39)	G262W	probably damaging	Het
Mindy3	G	A	2: 12,369,294 (GRCm39)	Q142*	probably null	Het
Optn	T	C	2: 5,039,833 (GRCm39)	E318G	probably damaging	Het
Or8j3	A	T	2: 86,028,363 (GRCm39)	H244Q	probably damaging	Het
Pan2	T	C	10: 128,148,768 (GRCm39)	S443P	probably benign	Het
Parva	A	G	7: 112,175,646 (GRCm39)	D259G	probably damaging	Het
Pkhd1l1	T	A	15: 44,448,269 (GRCm39)	L3816Q	probably damaging	Het
Polq	T	C	16: 36,880,737 (GRCm39)	F967S	probably benign	Het
Prdm16	T	C	4: 154,425,334 (GRCm39)	N817S	probably damaging	Het
Ptprt	C	A	2: 161,449,372 (GRCm39)		probably benign	Het
Rbbp8nl	T	A	2: 179,923,236 (GRCm39)	S154C	probably damaging	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Slit1	T	C	19: 41,640,122 (GRCm39)	I169V	probably damaging	Het
Smyd4	G	T	11: 75,280,890 (GRCm39)		probably benign	Het
Tial1	A	G	7: 128,045,607 (GRCm39)	Y326H	probably benign	Het
Tmem198b	A	G	10: 128,638,320 (GRCm39)	L81P	probably damaging	Het
Tmem94	T	A	11: 115,687,227 (GRCm39)	C1115*	probably null	Het
Tns3	A	G	11: 8,387,141 (GRCm39)	S1349P	probably damaging	Het
Wdr38	A	T	2: 38,888,424 (GRCm39)	N7I	probably damaging	Het
Zfp106	A	T	2: 120,376,395 (GRCm39)		probably null	Het
Zfp119b	T	C	17: 56,246,793 (GRCm39)	E99G	probably damaging	Het
Zfp462	T	A	4: 55,012,986 (GRCm39)	C503S	probably damaging	Het
Zfyve19	G	A	2: 119,042,496 (GRCm39)		probably null	Het
Zxdc	G	T	6: 90,359,352 (GRCm39)	K661N	probably damaging	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
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
R4974:Gm4787	UTSW	12	81,424,403 (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

Posted On

2015-04-16