Mutagenetix > Incidental Mutation

Incidental Mutation 'R9471:Tgm4'

715478

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R9471 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

123034726-123067561 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 123040379 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 8 (I8V)

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 benign
Transcript: ENSMUST00000026893
AA Change: I8V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000026893
Gene: ENSMUSG00000025787
AA Change: I8V

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

probably benign
Transcript: ENSMUST00000215247

Predicted Effect

probably benign
Transcript: ENSMUST00000217607
AA Change: I8V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl6b	A	G	5: 137,567,057	K368E	probably damaging	Het
Adgrl2	T	C	3: 148,852,729	T448A	probably benign	Het
Aff4	C	T	11: 53,380,646	P337S	probably benign	Het
Alg12	G	A	15: 88,806,418	Q406*	probably null	Het
Anapc5	T	C	5: 122,806,245	Y302C	probably damaging	Het
Apol7a	A	G	15: 77,389,480	S261P	possibly damaging	Het
Atad5	G	T	11: 80,132,698	K1545N	possibly damaging	Het
Atp6v1f	T	A	6: 29,467,942	D42E	probably benign	Het
Bcl6	T	A	16: 23,973,107	N166Y	probably benign	Het
Btbd7	C	T	12: 102,793,886	R601Q	probably damaging	Het
Casp1	A	G	9: 5,304,187	E287G	probably benign	Het
Cd300c	A	T	11: 114,956,390	V193E	probably damaging	Het
Cd300lg	T	A	11: 102,054,094	S377T	probably benign	Het
Ceacam13	T	A	7: 18,019,087	*264R	probably null	Het
Clasrp	G	A	7: 19,585,247	R498*	probably null	Het
Clec4n	T	A	6: 123,244,546	N146K	probably benign	Het
Cntln	T	A	4: 85,049,782	V746E	possibly damaging	Het
Defa29	T	C	8: 21,326,885	T31A	possibly damaging	Het
Egr4	A	G	6: 85,512,713	S122P	possibly damaging	Het
Fam221a	T	G	6: 49,372,586	D28E	probably damaging	Het
Fanca	G	A	8: 123,274,158	T1161I	possibly damaging	Het
Frat2	A	G	19: 41,847,674	S80P	probably benign	Het
Fuk	T	C	8: 110,883,409	E991G	probably benign	Het
Gm13089	T	A	4: 143,697,179	T347S	probably damaging	Het
Gse1	C	A	8: 120,575,106	S985R	unknown	Het
H2-M3	T	A	17: 37,271,097	I148N	probably damaging	Het
Hs6st3	G	T	14: 119,138,823	V137L	probably damaging	Het
Ighv1-42	T	A	12: 114,937,307	M53L	probably benign	Het
Klhl24	C	T	16: 20,122,985	T561I		Het
Klhl26	C	G	8: 70,452,153	G369A	probably damaging	Het
Klra5	C	A	6: 129,906,723	W147L	possibly damaging	Het
Lrrd1	A	T	5: 3,863,980	D750V		Het
Mc5r	A	G	18: 68,339,056	D162G	probably damaging	Het
Mrc2	T	A	11: 105,343,733	S1026R	probably benign	Het
Nf1	A	G	11: 79,545,369	H1945R	probably damaging	Het
Nr4a2	A	G	2: 57,112,102	M113T	probably benign	Het
Obox2	G	A	7: 15,397,188	G73D	probably damaging	Het
Olfr330	A	T	11: 58,529,529	C152*	probably null	Het
Olfr366	G	A	2: 37,220,388	A300T	probably damaging	Het
Pappa2	C	T	1: 158,814,459	M1342I	probably benign	Het
Pla2g6	A	T	15: 79,317,839	L44Q	probably damaging	Het
Pnpla1	A	T	17: 28,880,999	Q280L	probably benign	Het
Prdm1	C	T	10: 44,450,178	G117S	probably damaging	Het
Prss36	A	T	7: 127,946,433	F6I	probably benign	Het
Sat2	A	G	11: 69,622,899	Y81C	probably damaging	Het
Sbspon	T	C	1: 15,892,453	D67G	probably benign	Het
Shank2	G	A	7: 144,411,015	V787M	possibly damaging	Het
Stoml1	A	T	9: 58,256,685	I96F	probably damaging	Het
Tet2	C	T	3: 133,485,919	G918D	probably damaging	Het
Tmem156	C	T	5: 65,080,188	R43K	probably damaging	Het
Trim44	T	C	2: 102,400,306	S127G	unknown	Het
Ttn	C	T	2: 76,768,502	V19356M	probably damaging	Het
Tyw1	G	A	5: 130,269,224	R202Q	probably damaging	Het
Vmn2r67	A	C	7: 85,150,515		probably null	Het
Wdr90	C	A	17: 25,861,041	V107L	possibly damaging	Het
Zfp316	T	C	5: 143,255,406	D286G	unknown	Het
Zfp981	C	A	4: 146,537,623	P335Q	probably benign	Het
Zscan18	T	C	7: 12,774,416	T386A	possibly damaging	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
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
R9746:Tgm4	UTSW	9	123046569	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TCTTCCCGCTGTGTGCTAAG -3'
(R):5'- TCTTGGCCATCGCACATTTATAAAC -3'

Sequencing Primer
(F):5'- TGTGTGCTAAGGATCCCCC -3'
(R):5'- GGCCATCGCACATTTATAAACCTTTG -3'

Posted On

2022-06-15