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: 0.065) question?

Stock #

IGL02623

Quality Score

Status

Chromosome

Chromosomal Location

81376991-81379464 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 81378728 bp (GRCm38)

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: 91,056,144 (GRCm38)	I35F	probably benign	Het
Acad10	A	G	5: 121,629,930 (GRCm38)	V819A	possibly damaging	Het
Adgrd1	A	T	5: 129,132,745 (GRCm38)	N279Y	probably damaging	Het
Aplp2	C	A	9: 31,178,083 (GRCm38)		probably benign	Het
Armc8	T	C	9: 99,527,069 (GRCm38)		probably benign	Het
B3gnt5	A	G	16: 19,769,610 (GRCm38)	D193G	probably damaging	Het
Cacng1	A	G	11: 107,704,319 (GRCm38)	F144S	probably damaging	Het
Dnm3	T	A	1: 162,355,432 (GRCm38)	T105S	probably damaging	Het
Efcab6	T	A	15: 83,879,448 (GRCm38)	I1228F	probably damaging	Het
Erc2	A	G	14: 27,776,980 (GRCm38)	D271G	probably damaging	Het
Fat3	T	C	9: 15,997,137 (GRCm38)	Y2523C	probably damaging	Het
Fhl4	A	G	10: 85,098,171 (GRCm38)	F249L	probably damaging	Het
Gm17782	T	C	17: 36,162,066 (GRCm38)		probably benign	Het
Hk1	A	G	10: 62,292,359 (GRCm38)	L328P	probably benign	Het
Hspa12a	T	A	19: 58,809,551 (GRCm38)	Y245F	probably benign	Het
Kbtbd12	T	C	6: 88,618,389 (GRCm38)	Y153C	probably damaging	Het
Kcnd2	A	T	6: 21,726,195 (GRCm38)	R562S	probably benign	Het
Lct	T	C	1: 128,308,251 (GRCm38)	S340G	probably benign	Het
Maats1	T	A	16: 38,333,778 (GRCm38)	D135V	possibly damaging	Het
Mettl25	C	A	10: 105,826,324 (GRCm38)	G262W	probably damaging	Het
Mindy3	G	A	2: 12,364,483 (GRCm38)	Q142*	probably null	Het
Olfr1045	A	T	2: 86,198,019 (GRCm38)	H244Q	probably damaging	Het
Optn	T	C	2: 5,035,022 (GRCm38)	E318G	probably damaging	Het
Pan2	T	C	10: 128,312,899 (GRCm38)	S443P	probably benign	Het
Parva	A	G	7: 112,576,439 (GRCm38)	D259G	probably damaging	Het
Pkhd1l1	T	A	15: 44,584,873 (GRCm38)	L3816Q	probably damaging	Het
Polq	T	C	16: 37,060,375 (GRCm38)	F967S	probably benign	Het
Prdm16	T	C	4: 154,340,877 (GRCm38)	N817S	probably damaging	Het
Ptprt	C	A	2: 161,607,452 (GRCm38)		probably benign	Het
Rbbp8nl	T	A	2: 180,281,443 (GRCm38)	S154C	probably damaging	Het
Ror2	C	T	13: 53,110,728 (GRCm38)	S764N	probably damaging	Het
Slit1	T	C	19: 41,651,683 (GRCm38)	I169V	probably damaging	Het
Smyd4	G	T	11: 75,390,064 (GRCm38)		probably benign	Het
Tial1	A	G	7: 128,443,883 (GRCm38)	Y326H	probably benign	Het
Tmem198b	A	G	10: 128,802,451 (GRCm38)	L81P	probably damaging	Het
Tmem94	T	A	11: 115,796,401 (GRCm38)	C1115*	probably null	Het
Tns3	A	G	11: 8,437,141 (GRCm38)	S1349P	probably damaging	Het
Wdr38	A	T	2: 38,998,412 (GRCm38)	N7I	probably damaging	Het
Zfp106	A	T	2: 120,545,914 (GRCm38)		probably null	Het
Zfp119b	T	C	17: 55,939,793 (GRCm38)	E99G	probably damaging	Het
Zfp462	T	A	4: 55,012,986 (GRCm38)	C503S	probably damaging	Het
Zfyve19	G	A	2: 119,212,015 (GRCm38)		probably null	Het
Zxdc	G	T	6: 90,382,370 (GRCm38)	K661N	probably damaging	Het

Other mutations in Gm4787

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01719:Gm4787	APN	12	81,377,174 (GRCm38)	missense	possibly damaging	0.50
IGL01916:Gm4787	APN	12	81,377,444 (GRCm38)	missense	probably benign	0.36
IGL02193:Gm4787	APN	12	81,378,528 (GRCm38)	missense	probably benign	0.02
IGL02681:Gm4787	APN	12	81,378,769 (GRCm38)	missense	possibly damaging	0.88
IGL03257:Gm4787	APN	12	81,378,052 (GRCm38)	missense	probably damaging	1.00
IGL03410:Gm4787	APN	12	81,379,174 (GRCm38)	missense	probably damaging	1.00
F5770:Gm4787	UTSW	12	81,377,567 (GRCm38)	nonsense	probably null
PIT4362001:Gm4787	UTSW	12	81,377,175 (GRCm38)	missense	probably benign
R0070:Gm4787	UTSW	12	81,379,066 (GRCm38)	missense	probably damaging	1.00
R0128:Gm4787	UTSW	12	81,377,747 (GRCm38)	nonsense	probably null
R0220:Gm4787	UTSW	12	81,378,648 (GRCm38)	missense	probably damaging	0.98
R0304:Gm4787	UTSW	12	81,378,934 (GRCm38)	missense	probably damaging	1.00
R0513:Gm4787	UTSW	12	81,378,312 (GRCm38)	missense	probably benign	0.03
R1761:Gm4787	UTSW	12	81,377,176 (GRCm38)	missense	probably benign	0.02
R1809:Gm4787	UTSW	12	81,378,529 (GRCm38)	missense	possibly damaging	0.91
R1853:Gm4787	UTSW	12	81,378,334 (GRCm38)	missense	probably damaging	1.00
R1854:Gm4787	UTSW	12	81,378,334 (GRCm38)	missense	probably damaging	1.00
R2030:Gm4787	UTSW	12	81,378,770 (GRCm38)	missense	probably damaging	1.00
R2063:Gm4787	UTSW	12	81,378,920 (GRCm38)	missense	probably benign	0.39
R2112:Gm4787	UTSW	12	81,377,833 (GRCm38)	missense	probably damaging	1.00
R2140:Gm4787	UTSW	12	81,378,562 (GRCm38)	missense	probably benign	0.03
R2151:Gm4787	UTSW	12	81,377,219 (GRCm38)	missense	probably benign	0.00
R2152:Gm4787	UTSW	12	81,377,219 (GRCm38)	missense	probably benign	0.00
R2342:Gm4787	UTSW	12	81,378,758 (GRCm38)	missense	possibly damaging	0.91
R2504:Gm4787	UTSW	12	81,379,137 (GRCm38)	missense	possibly damaging	0.93
R4038:Gm4787	UTSW	12	81,378,358 (GRCm38)	missense	probably damaging	1.00
R4604:Gm4787	UTSW	12	81,379,213 (GRCm38)	missense	probably benign	0.17
R4748:Gm4787	UTSW	12	81,378,056 (GRCm38)	missense	probably damaging	1.00
R4750:Gm4787	UTSW	12	81,378,367 (GRCm38)	missense	possibly damaging	0.95
R4928:Gm4787	UTSW	12	81,378,838 (GRCm38)	missense	probably benign	0.03
R4960:Gm4787	UTSW	12	81,379,316 (GRCm38)	missense	probably damaging	0.99
R4974:Gm4787	UTSW	12	81,377,629 (GRCm38)	missense	probably damaging	0.99
R5028:Gm4787	UTSW	12	81,377,830 (GRCm38)	missense	probably benign	0.01
R5029:Gm4787	UTSW	12	81,377,830 (GRCm38)	missense	probably benign	0.01
R5031:Gm4787	UTSW	12	81,377,830 (GRCm38)	missense	probably benign	0.01
R5098:Gm4787	UTSW	12	81,377,830 (GRCm38)	missense	probably benign	0.01
R5099:Gm4787	UTSW	12	81,377,830 (GRCm38)	missense	probably benign	0.01
R5100:Gm4787	UTSW	12	81,377,830 (GRCm38)	missense	probably benign	0.01
R5101:Gm4787	UTSW	12	81,377,830 (GRCm38)	missense	probably benign	0.01
R5135:Gm4787	UTSW	12	81,377,830 (GRCm38)	missense	probably benign	0.01
R5152:Gm4787	UTSW	12	81,378,677 (GRCm38)	missense	probably benign	0.02
R5180:Gm4787	UTSW	12	81,377,830 (GRCm38)	missense	probably benign	0.01
R5220:Gm4787	UTSW	12	81,377,830 (GRCm38)	missense	probably benign	0.01
R5257:Gm4787	UTSW	12	81,377,830 (GRCm38)	missense	probably benign	0.01
R5258:Gm4787	UTSW	12	81,377,830 (GRCm38)	missense	probably benign	0.01
R5297:Gm4787	UTSW	12	81,377,830 (GRCm38)	missense	probably benign	0.01
R5324:Gm4787	UTSW	12	81,377,830 (GRCm38)	missense	probably benign	0.01
R5325:Gm4787	UTSW	12	81,377,830 (GRCm38)	missense	probably benign	0.01
R5355:Gm4787	UTSW	12	81,377,465 (GRCm38)	nonsense	probably null
R5364:Gm4787	UTSW	12	81,377,830 (GRCm38)	missense	probably benign	0.01
R5396:Gm4787	UTSW	12	81,377,830 (GRCm38)	missense	probably benign	0.01
R5397:Gm4787	UTSW	12	81,377,830 (GRCm38)	missense	probably benign	0.01
R5398:Gm4787	UTSW	12	81,377,830 (GRCm38)	missense	probably benign	0.01
R5514:Gm4787	UTSW	12	81,378,328 (GRCm38)	missense	possibly damaging	0.90
R5634:Gm4787	UTSW	12	81,377,830 (GRCm38)	missense	probably benign	0.01
R5666:Gm4787	UTSW	12	81,378,031 (GRCm38)	missense	probably benign	0.23
R5670:Gm4787	UTSW	12	81,378,031 (GRCm38)	missense	probably benign	0.23
R5787:Gm4787	UTSW	12	81,377,830 (GRCm38)	missense	probably benign	0.01
R5788:Gm4787	UTSW	12	81,377,830 (GRCm38)	missense	probably benign	0.01
R6354:Gm4787	UTSW	12	81,377,981 (GRCm38)	missense	probably damaging	1.00
R6932:Gm4787	UTSW	12	81,379,200 (GRCm38)	missense	probably benign	0.04
R7120:Gm4787	UTSW	12	81,378,486 (GRCm38)	missense	probably benign	0.00
R7237:Gm4787	UTSW	12	81,377,668 (GRCm38)	missense	probably damaging	0.99
R7937:Gm4787	UTSW	12	81,377,905 (GRCm38)	missense	probably benign	0.01
R8022:Gm4787	UTSW	12	81,377,720 (GRCm38)	missense	possibly damaging	0.94
R8140:Gm4787	UTSW	12	81,378,151 (GRCm38)	missense	probably benign	0.00
R8314:Gm4787	UTSW	12	81,379,135 (GRCm38)	missense	probably damaging	1.00
R8480:Gm4787	UTSW	12	81,377,506 (GRCm38)	missense	probably damaging	1.00
R8498:Gm4787	UTSW	12	81,379,066 (GRCm38)	missense	probably damaging	1.00
R8515:Gm4787	UTSW	12	81,377,269 (GRCm38)	missense	probably benign	0.00
R9103:Gm4787	UTSW	12	81,378,715 (GRCm38)	missense	probably benign	0.06
R9457:Gm4787	UTSW	12	81,379,246 (GRCm38)	missense	probably damaging	1.00
R9557:Gm4787	UTSW	12	81,379,300 (GRCm38)	nonsense	probably null
R9608:Gm4787	UTSW	12	81,378,312 (GRCm38)	missense	probably benign	0.03
V7580:Gm4787	UTSW	12	81,377,567 (GRCm38)	nonsense	probably null
V7581:Gm4787	UTSW	12	81,377,567 (GRCm38)	nonsense	probably null
V7582:Gm4787	UTSW	12	81,377,567 (GRCm38)	nonsense	probably null

Posted On

2015-04-16