Mutagenetix > Incidental Mutation

Incidental Mutation 'R1644:Tgm4'

173758

Institutional Source

Beutler Lab

Gene Symbol

Tgm4

Ensembl Gene

ENSMUSG00000025787

Gene Name

transglutaminase 4 (prostate)

Synonyms

9530008N10Rik, Eapa1, experimental autoimmune prostatitis antigen 1

MMRRC Submission

039680-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R1644 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

123034726-123067561 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 123051416 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 294 (Y294C)

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: Y294C

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

SMART Domains

Protein: ENSMUSP00000026893
Gene: ENSMUSG00000025787
AA Change: Y294C

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

probably benign
Transcript: ENSMUST00000217607

Meta Mutation Damage Score

0.8507

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.6%

Validation Efficiency

98% (62/63)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	C	T	1: 11,414,590	R8*	probably null	Het
Acacb	A	T	5: 114,195,285	H490L	probably damaging	Het
Ace	C	A	11: 105,985,106	H417N	probably damaging	Het
Adamtsl3	A	G	7: 82,450,090	N151D	possibly damaging	Het
Agap1	A	G	1: 89,663,730	N114S	probably damaging	Het
Arap3	A	T	18: 37,984,245	V926D	probably damaging	Het
Arhgap12	A	T	18: 6,112,340	I8N	probably benign	Het
Arhgef17	A	T	7: 100,929,504	F746I	probably damaging	Het
Atp6v0a1	T	C	11: 101,038,786	S471P	possibly damaging	Het
Bdp1	A	G	13: 100,060,940	V979A	probably benign	Het
Ccdc88c	C	A	12: 100,913,474	R1789L	probably damaging	Het
Cckar	A	T	5: 53,699,873	N327K	probably benign	Het
Cfap65	T	C	1: 74,917,175	T1082A	probably damaging	Het
Clcn7	T	A	17: 25,159,698	I719N	probably damaging	Het
Col27a1	C	G	4: 63,328,631		probably benign	Het
Cspp1	C	T	1: 10,126,438	T179I	probably damaging	Het
Dnah1	C	T	14: 31,302,292		probably benign	Het
Dnah6	A	G	6: 73,155,296	V1141A	probably benign	Het
Dusp4	A	G	8: 34,818,479	Y298C	probably damaging	Het
Efhc1	C	A	1: 20,967,401	Y267*	probably null	Het
Eif2s1	T	A	12: 78,866,521		probably null	Het
Epo	A	G	5: 137,483,155	V169A	possibly damaging	Het
Esr1	A	T	10: 5,001,380	Y586F	probably benign	Het
Fat2	T	C	11: 55,287,783	T1484A	possibly damaging	Het
Fat2	T	C	11: 55,296,181	T1280A	possibly damaging	Het
Gm5828	T	C	1: 16,769,261		noncoding transcript	Het
Idh3b	T	C	2: 130,281,510	I187V	possibly damaging	Het
Kif13a	A	C	13: 46,793,922	V862G	probably benign	Het
Kndc1	A	G	7: 139,930,756	D1327G	probably damaging	Het
Mfsd9	T	A	1: 40,773,798	R452S	probably benign	Het
Myh15	C	T	16: 49,132,203	R879C	probably benign	Het
Naip2	T	C	13: 100,182,929	R260G	possibly damaging	Het
Npat	T	G	9: 53,570,172	L1060R	probably damaging	Het
Olfr1211	A	T	2: 88,929,387	D309E	probably benign	Het
Olfr1261	A	T	2: 89,993,953	T187S	possibly damaging	Het
Olfr169	T	A	16: 19,566,406	H159L	probably benign	Het
Olfr523	T	C	7: 140,176,648	V176A	probably benign	Het
Olfr667	A	C	7: 104,916,808	F163V	probably benign	Het
Pld5	T	C	1: 175,975,626	T296A	possibly damaging	Het
Polq	C	T	16: 37,060,264	A651V	probably damaging	Het
Polr3a	G	A	14: 24,470,624	P607S	probably damaging	Het
Ranbp9	G	A	13: 43,412,539	R424C	probably damaging	Het
Rsl1	G	A	13: 67,177,165		probably benign	Het
Sema4c	A	G	1: 36,550,804	S490P	probably damaging	Het
Setd3	A	T	12: 108,113,344	L300Q	possibly damaging	Het
Slc15a3	T	C	19: 10,857,231	I492T	possibly damaging	Het
Stag1	T	C	9: 100,880,900		probably benign	Het
Tm9sf1	A	G	14: 55,641,300	S212P	probably benign	Het
Tmcc1	A	G	6: 116,133,865	S156P	probably damaging	Het
Vmn1r184	A	C	7: 26,267,245	M139L	probably benign	Het
Vmn1r209	A	C	13: 22,806,482	F13V	possibly damaging	Het
Xkr5	T	C	8: 18,934,125	E467G	probably benign	Het
Zdbf2	C	T	1: 63,308,972	S2170L	possibly damaging	Het
Zfp277	G	T	12: 40,329,610		probably null	Het
Zfp62	T	C	11: 49,215,769	I229T	probably damaging	Het
Zfp810	A	G	9: 22,279,028	S195P	possibly damaging	Het
Zfp94	G	A	7: 24,311,502		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
IGL02120:Tgm4	APN	9	123046529	missense	probably damaging	0.98
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
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

Predicted Primers

PCR Primer
(F):5'- TGCAGCAGCATTATGTCACCAGG -3'
(R):5'- AGGCTGACTATGCAAAGTGGGTTTC -3'

Sequencing Primer
(F):5'- GCATTATGTCACCAGGATGCC -3'
(R):5'- CTATGCAAAGTGGGTTTCTGGTG -3'

Posted On

2014-04-24