Mutagenetix > Incidental Mutation

Incidental Mutation 'R9328:Tgm4'

706661

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: 0.057) question?

Stock #

R9328 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

123034726-123067561 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 123056632 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 413 (V413A)

Ref Sequence

ENSEMBL: ENSMUSP00000026893 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026893
AA Change: V413A

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000026893
Gene: ENSMUSG00000025787
AA Change: V413A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600014C10Rik	A	G	7: 38,194,848	T102A	probably benign	Het
1700109H08Rik	A	G	5: 3,582,161	K164E	possibly damaging	Het
2410089E03Rik	A	G	15: 8,186,208	D416G	probably damaging	Het
2610042L04Rik	C	T	14: 4,350,013	Q74*	probably null	Het
Adgrb2	T	A	4: 130,021,570	M1381K	probably damaging	Het
Adgrv1	C	A	13: 81,472,404	D3975Y	probably damaging	Het
Ano10	C	T	9: 122,261,102	E382K	possibly damaging	Het
Ascc3	T	C	10: 50,658,919	V636A	probably damaging	Het
AU040320	T	C	4: 126,835,539	V498A	possibly damaging	Het
Bahcc1	C	T	11: 120,275,059	T1047I	possibly damaging	Het
BC004004	A	T	17: 29,282,708	T74S	possibly damaging	Het
Bend3	A	G	10: 43,511,423	D604G	possibly damaging	Het
Brinp3	T	A	1: 146,831,717	V373E	probably damaging	Het
Bsph2	A	T	7: 13,556,839	D38E	probably benign	Het
Catsperd	A	G	17: 56,658,074	I474V	possibly damaging	Het
Ccdc180	A	G	4: 45,902,447	N292S	possibly damaging	Het
Cd1d1	A	T	3: 86,998,152	V178E	possibly damaging	Het
Cdca2	T	A	14: 67,693,682	R521W	probably damaging	Het
Champ1	A	G	8: 13,879,392	K517E	probably damaging	Het
Chrna9	T	C	5: 65,971,226	F259S	probably damaging	Het
Chuk	A	T	19: 44,096,983	C241*	probably null	Het
Clns1a	A	G	7: 97,714,033	Y204C	probably benign	Het
Cyp2j7	A	T	4: 96,227,632	N192K	probably damaging	Het
Ddr2	A	G	1: 170,001,935	V250A	probably benign	Het
Dlgap2	A	G	8: 14,727,441	S229G	probably damaging	Het
Dmrt1	A	T	19: 25,545,867	H194L	probably damaging	Het
Dock7	A	T	4: 99,079,827	F138I		Het
Dsg2	T	C	18: 20,582,790	V263A	possibly damaging	Het
Dusp16	A	G	6: 134,739,939	L135P	probably damaging	Het
Dysf	A	G	6: 84,073,913	N414S	probably damaging	Het
Efhc1	A	G	1: 20,960,374	Y177C	probably damaging	Het
Fam83e	A	T	7: 45,723,488	R174S	probably benign	Het
Fgf4	C	T	7: 144,862,927	L199F	probably damaging	Het
Fignl2	A	G	15: 101,053,390	L337P	unknown	Het
Gatsl3	T	C	11: 4,220,423	F140L	probably benign	Het
Gm15448	T	A	7: 3,824,581	R192S	unknown	Het
Gm4353	T	C	7: 116,083,489	R286G	probably damaging	Het
Gm436	T	A	4: 144,674,686	H76L	probably benign	Het
Gm5142	T	C	14: 59,178,677	S11G	probably benign	Het
Gpr151	A	G	18: 42,579,205	V136A	probably damaging	Het
Ift80	T	A	3: 68,940,150	I338F	probably damaging	Het
Itgb4	A	G	11: 115,989,799	S693G	probably benign	Het
Kif13a	T	A	13: 46,798,362	I812F	probably damaging	Het
Krit1	T	C	5: 3,812,577		probably null	Het
Mapk6	T	C	9: 75,397,970	D55G	possibly damaging	Het
Matn3	A	G	12: 8,952,033	I82V	possibly damaging	Het
Mecom	T	A	3: 30,009,845	D32V	unknown	Het
Nacad	T	C	11: 6,602,417	H258R	possibly damaging	Het
Ndufaf5	T	A	2: 140,188,832	S213T	possibly damaging	Het
Nphp1	C	T	2: 127,740,972	D674N	possibly damaging	Het
Nsmaf	A	G	4: 6,426,412	L250P	probably damaging	Het
Ogdh	T	C	11: 6,347,838	S571P	probably benign	Het
Olfr391-ps	T	C	11: 73,799,652	Y35C	probably damaging	Het
Olfr641	T	A	7: 104,040,061	D88E		Het
Olfr944	T	C	9: 39,217,879	I174T	probably damaging	Het
Osbpl11	A	G	16: 33,226,875	I403V	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398		probably benign	Het
Plat	A	G	8: 22,778,117	R300G	probably damaging	Het
Ppid	T	C	3: 79,597,752	I134T	probably damaging	Het
Rad51ap2	A	G	12: 11,457,771	I565V	probably benign	Het
Rasa1	T	C	13: 85,255,456		probably null	Het
Sema4a	C	T	3: 88,438,306	W490*	probably null	Het
Sept3	A	G	15: 82,289,238	Y257C	probably damaging	Het
Sh3rf2	C	A	18: 42,141,096	F442L	probably benign	Het
Sipa1l1	A	G	12: 82,342,018	I339M	possibly damaging	Het
Six2	T	C	17: 85,687,768	N62S	possibly damaging	Het
Slc44a5	T	C	3: 154,259,041	I526T	probably benign	Het
Smarca5	T	C	8: 80,720,749	S402G	probably benign	Het
Son	T	A	16: 91,655,757	V464E	possibly damaging	Het
Sorcs3	A	G	19: 48,797,511	K1144E	probably damaging	Het
Stxbp6	A	G	12: 44,855,876	L204P	probably damaging	Het
Tchh	A	G	3: 93,444,263	R337G	unknown	Het
Tmem131	G	A	1: 36,819,155	Q704*	probably null	Het
Tmpo	T	C	10: 91,162,963	K321E	probably damaging	Het
Trim75	G	T	8: 64,982,663	N378K	probably benign	Het
Tspan18	T	A	2: 93,205,720	I227F	probably benign	Het
Ttn	C	T	2: 76,711,182	W33820*	probably null	Het
Urb2	T	A	8: 124,047,295	Y1522N	probably damaging	Het
Zbtb40	T	C	4: 137,018,309	N138D	probably benign	Het
Zfp715	A	T	7: 43,297,904	H877Q	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
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'- CACTGACTGCTATTCGCCAG -3'
(R):5'- CATTCTTGCTAAAGACCATGTGG -3'

Sequencing Primer
(F):5'- ATTCGCCAGGGATTGATCC -3'
(R):5'- TTGTGACAGGGACCTCTGGC -3'

Posted On

2022-04-18