Mutagenetix > Incidental Mutation

Incidental Mutation 'R2437:Tgm4'

249667

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

040398-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R2437 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

123034726-123067561 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 123048549 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 205 (C205*)

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 null
Transcript: ENSMUST00000026893
AA Change: C205*

SMART Domains

Protein: ENSMUSP00000026893
Gene: ENSMUSG00000025787
AA Change: C205*

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

Meta Mutation Damage Score

0.9651

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.0%

Validation Efficiency

100% (75/75)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	A	G	4: 147,946,618	*635W	probably null	Het
4921507P07Rik	T	A	6: 50,583,979	D212V	probably damaging	Het
4932438A13Rik	T	A	3: 36,958,685		probably null	Het
Anxa2	A	G	9: 69,489,764	Y317C	probably damaging	Het
Arhgef26	T	C	3: 62,432,581	S675P	probably damaging	Het
Camk2d	A	G	3: 126,834,628	N53S	probably damaging	Het
Carns1	A	T	19: 4,165,783	M800K	possibly damaging	Het
Ces1f	A	T	8: 93,270,139		probably null	Het
Chrne	T	A	11: 70,615,260	D426V	possibly damaging	Het
Cntfr	T	C	4: 41,671,035	T43A	probably damaging	Het
Cntn5	A	T	9: 10,048,753	C63*	probably null	Het
Col12a1	G	A	9: 79,692,219	T884I	probably damaging	Het
Dnah5	T	C	15: 28,307,391		probably null	Het
Dnajc2	A	T	5: 21,760,391	S537R	probably benign	Het
Dnajc25	T	C	4: 59,020,234	I100T	probably damaging	Het
Ephx1	C	A	1: 180,996,096	G149C	probably damaging	Het
Fam163b	G	T	2: 27,112,686	P100T	probably damaging	Het
Fgd5	A	T	6: 92,062,869	R1017*	probably null	Het
Fibin	A	T	2: 110,362,503	L98Q	probably damaging	Het
Fndc3b	A	T	3: 27,451,332	L929H	probably damaging	Het
Frem1	T	A	4: 83,000,173	S512C	probably damaging	Het
Gm4922	T	A	10: 18,784,081	M298L	probably benign	Het
Gstm2	G	A	3: 107,984,053		probably benign	Het
Gtf3c2	A	G	5: 31,159,698		probably null	Het
Ibtk	A	C	9: 85,708,125	L1026V	probably benign	Het
Il9	T	A	13: 56,481,871		probably benign	Het
Inpp4a	T	C	1: 37,392,956	S146P	probably damaging	Het
Kcnab1	G	T	3: 65,357,014		probably benign	Het
Lrrc29	A	G	8: 105,313,043		probably null	Het
Mgat4c	T	C	10: 102,388,575	S217P	probably damaging	Het
Mr1	T	C	1: 155,132,531	M233V	probably benign	Het
Ncoa2	G	A	1: 13,148,360	T1415I	probably damaging	Het
Oasl2	G	A	5: 114,911,296	D486N	probably benign	Het
Olfr1412	T	C	1: 92,588,966	I212T	possibly damaging	Het
Olfr342	A	T	2: 36,528,246	Y278F	probably damaging	Het
Olfr461	G	A	6: 40,544,922	T19I	probably benign	Het
Pcnx4	T	C	12: 72,541,813	F132L	probably damaging	Het
Pde5a	T	A	3: 122,843,053	L717Q	probably damaging	Het
Peli2	A	T	14: 48,227,932		probably benign	Het
Phf14	A	G	6: 11,962,658	S435G	probably damaging	Het
Plekhg1	T	A	10: 3,963,564	H1095Q	probably damaging	Het
Plekhh2	A	G	17: 84,586,479		probably null	Het
Plekho1	T	G	3: 95,992,185	N99H	probably damaging	Het
Plxnc1	T	A	10: 94,906,533	K457N	probably benign	Het
Ppp1r3a	T	C	6: 14,718,323	E864G	probably benign	Het
Prkab2	T	A	3: 97,667,399	L237Q	probably damaging	Het
Ptch1	T	G	13: 63,524,959	E944A	probably benign	Het
Ptger3	T	A	3: 157,567,570	C185S	probably damaging	Het
Ptprk	T	C	10: 28,354,713	Y267H	probably damaging	Het
Pum2	A	G	12: 8,744,654	I715V	probably benign	Het
R3hdm1	T	C	1: 128,186,836	V518A	probably damaging	Het
Rab3d	T	C	9: 21,915,851	I28V	probably damaging	Het
Rad54b	T	C	4: 11,606,272	L560P	probably damaging	Het
Rgs20	A	G	1: 5,070,147		probably null	Het
Sesn1	T	A	10: 41,905,319	L460H	probably damaging	Het
Slc39a14	A	G	14: 70,316,436		probably null	Het
Slco6c1	T	A	1: 97,062,476	H663L	probably benign	Het
Snx13	T	A	12: 35,082,927	C63S	probably benign	Het
Strip2	T	C	6: 29,941,941		probably null	Het
Syncrip	A	G	9: 88,479,567		probably benign	Het
Taf15	A	G	11: 83,504,753		probably benign	Het
Tbc1d8	T	C	1: 39,405,287		probably null	Het
Tmem212	A	T	3: 27,886,479	L63Q	possibly damaging	Het
Tmem63a	G	A	1: 180,962,489		probably null	Het
Trpm5	C	A	7: 143,082,561	V525L	probably benign	Het
Ttn	A	G	2: 76,706,827	L34919P	probably damaging	Het
Ttn	T	C	2: 76,864,275		probably benign	Het
Tuba4a	T	C	1: 75,217,425	I4V	possibly damaging	Het
Ubr4	A	G	4: 139,473,542	D4679G	possibly damaging	Het
Usp2	T	G	9: 44,092,148	V448G	probably damaging	Het
Usp3	A	G	9: 66,545,742		probably null	Het
Zfp341	T	A	2: 154,628,801	V246E	probably 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
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'- ACTGTGGGCAAGTTCCCTTAC -3'
(R):5'- CATTCCTTGGTAGTTTTGACTGAC -3'

Sequencing Primer
(F):5'- CTTACTTGGTAGATGAGATACCCC -3'
(R):5'- TGACTGCTCAGCCACAGC -3'

Posted On

2014-11-12