Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02120:Tgm4'

280561

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tgm4

Ensembl Gene

ENSMUSG00000025787

Gene Name

transglutaminase 4 (prostate)

Synonyms

9530008N10Rik, Eapa1, experimental autoimmune prostatitis antigen 1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

IGL02120

Quality Score

Status

Chromosome

Chromosomal Location

123034726-123067561 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 123046529 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 149 (I149N)

Ref Sequence

ENSEMBL: ENSMUSP00000026893 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026893] [ENSMUST00000215247] [ENSMUST00000217607]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000026893
AA Change: I149N

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000026893
Gene: ENSMUSG00000025787
AA Change: I149N

Domain	Start	End	E-Value	Type
Pfam:Transglut_N	8	118	4e-26	PFAM
TGc	247	340	6.25e-42	SMART
Pfam:Transglut_C	573	670	3e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128572

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171897

Predicted Effect

probably benign
Transcript: ENSMUST00000215247

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217036

Predicted Effect

probably benign
Transcript: ENSMUST00000217607

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired copulatory plug formation, reduced fertilization and few litters sired. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012P22Rik	C	T	4: 144,418,411	R195H	probably benign	Het
Abcb11	T	C	2: 69,257,310	Y1037C	probably damaging	Het
Aldh16a1	G	A	7: 45,146,035	P400L	probably damaging	Het
Ankrd33b	T	C	15: 31,367,056	T113A	possibly damaging	Het
Aox3	T	A	1: 58,127,650	N177K	probably benign	Het
Arhgap29	T	A	3: 122,004,257	V532E	probably benign	Het
Brd8	C	T	18: 34,602,727	S899N	probably damaging	Het
Caskin1	G	T	17: 24,500,942	G401V	probably damaging	Het
Cemip	A	T	7: 83,951,563	M950K	probably damaging	Het
Chrd	T	C	16: 20,734,541	V211A	probably damaging	Het
Ckap2l	T	C	2: 129,285,622	N212S	possibly damaging	Het
Clip1	T	C	5: 123,647,883	D246G	probably damaging	Het
Dlst	T	C	12: 85,118,568	S82P	probably benign	Het
Dmxl1	T	A	18: 49,894,178	L2118M	possibly damaging	Het
Dnah7a	T	C	1: 53,495,717	K2795E	possibly damaging	Het
Enpp5	T	A	17: 44,080,845	M55K	probably benign	Het
Epdr1	A	T	13: 19,594,471	S50T	probably damaging	Het
Gm6169	G	T	13: 97,098,777		probably benign	Het
Gm7808	T	A	9: 19,928,017		probably benign	Het
Huwe1	T	A	X: 151,907,390	F2485I	possibly damaging	Het
Kcnb2	C	T	1: 15,709,861	T319M	probably damaging	Het
Lama1	G	A	17: 67,716,789	V60M	probably damaging	Het
Lingo3	A	T	10: 80,835,859	L79Q	probably damaging	Het
Magi2	T	A	5: 20,228,453		probably null	Het
Mob2	C	A	7: 142,010,298	V33L	possibly damaging	Het
Mus81	G	A	19: 5,485,633		probably benign	Het
Nup210l	G	A	3: 90,136,862	G490D	probably damaging	Het
Olfr702	A	C	7: 106,823,698	V276G	possibly damaging	Het
Pbp2	A	G	6: 135,309,818	V177A	probably damaging	Het
Pomt2	T	C	12: 87,111,552	D656G	probably benign	Het
Ppp2r1b	A	G	9: 50,861,769		probably benign	Het
Ptprq	T	C	10: 107,667,472	E775G	probably damaging	Het
Rad54l	T	C	4: 116,098,984	I549V	probably benign	Het
Ranbp10	T	C	8: 105,805,582	Y145C	probably damaging	Het
Runx1t1	A	T	4: 13,846,884	T223S	probably benign	Het
Stxbp6	G	T	12: 44,902,048		probably benign	Het
Syne2	A	G	12: 75,946,706	D2085G	probably damaging	Het
Szt2	C	T	4: 118,388,564	R1064Q	probably benign	Het
Taar3	A	G	10: 23,950,167	T204A	probably benign	Het
Tdpoz1	A	G	3: 93,670,443	S345P	probably damaging	Het
Tubal3	T	A	13: 3,930,675	I129N	probably damaging	Het
Vegfc	T	C	8: 54,181,401	F372L	possibly damaging	Het
Vmn2r9	G	A	5: 108,843,636	L620F	probably damaging	Het
Vwf	C	A	6: 125,616,034	L786M	probably benign	Het

Other mutations in Tgm4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00432:Tgm4	APN	9	123062382	unclassified	probably benign
IGL01402:Tgm4	APN	9	123051454	missense	possibly damaging	0.82
IGL02000:Tgm4	APN	9	123056466	missense	probably damaging	1.00
IGL03130:Tgm4	APN	9	123056515	missense	probably damaging	1.00
IGL03188:Tgm4	APN	9	123045036	missense	probably null	0.06
R0329:Tgm4	UTSW	9	123048557	critical splice donor site	probably null
R0480:Tgm4	UTSW	9	123062419	missense	probably benign
R0644:Tgm4	UTSW	9	123051458	missense	probably damaging	1.00
R0990:Tgm4	UTSW	9	123046511	missense	probably benign	0.02
R1604:Tgm4	UTSW	9	123045064	missense	probably benign	0.39
R1644:Tgm4	UTSW	9	123051416	missense	probably damaging	1.00
R2056:Tgm4	UTSW	9	123061770	missense	probably damaging	1.00
R2058:Tgm4	UTSW	9	123061770	missense	probably damaging	1.00
R2059:Tgm4	UTSW	9	123061770	missense	probably damaging	1.00
R2076:Tgm4	UTSW	9	123051095	missense	probably benign	0.24
R2437:Tgm4	UTSW	9	123048549	nonsense	probably null
R4392:Tgm4	UTSW	9	123066752	missense	probably benign	0.10
R4407:Tgm4	UTSW	9	123056530	missense	probably damaging	1.00
R4752:Tgm4	UTSW	9	123051386	missense	probably damaging	1.00
R5288:Tgm4	UTSW	9	123056494	missense	probably damaging	1.00
R5365:Tgm4	UTSW	9	123066801	missense	probably damaging	1.00
R5386:Tgm4	UTSW	9	123056494	missense	probably damaging	1.00
R5790:Tgm4	UTSW	9	123061743	missense	probably damaging	0.98
R5890:Tgm4	UTSW	9	123061638	missense	probably damaging	1.00
R6102:Tgm4	UTSW	9	123056535	missense	probably benign
R6358:Tgm4	UTSW	9	123056518	missense	probably damaging	1.00
R6956:Tgm4	UTSW	9	123064703	missense	possibly damaging	0.93
R6966:Tgm4	UTSW	9	123051142	missense	possibly damaging	0.68
R7091:Tgm4	UTSW	9	123040460	missense	probably damaging	1.00
R7258:Tgm4	UTSW	9	123062491	missense	probably benign	0.02
R7313:Tgm4	UTSW	9	123062491	missense	probably benign	0.02
R7369:Tgm4	UTSW	9	123056684	critical splice donor site	probably null
R7802:Tgm4	UTSW	9	123051336	intron	probably benign
R8219:Tgm4	UTSW	9	123045052	missense	probably benign
R8787:Tgm4	UTSW	9	123061845	missense	probably damaging	1.00
R8936:Tgm4	UTSW	9	123040476	missense	possibly damaging	0.92
R9045:Tgm4	UTSW	9	123048551	missense	possibly damaging	0.94
R9328:Tgm4	UTSW	9	123056632	missense	possibly damaging	0.93
R9359:Tgm4	UTSW	9	123052772	missense	probably damaging	1.00
R9403:Tgm4	UTSW	9	123052772	missense	probably damaging	1.00
R9471:Tgm4	UTSW	9	123040379	missense	probably benign
R9746:Tgm4	UTSW	9	123046569	missense	possibly damaging	0.95

Posted On

2015-04-16