Mutagenetix > Incidental Mutation

Incidental Mutation 'R2437:Tgm4'

249667

Institutional Source

Beutler Lab

Gene Symbol

Tgm4

Ensembl Gene

ENSMUSG00000025787

Gene Name

transglutaminase 4 (prostate)

Synonyms

Eapa1, 9530008N10Rik, experimental autoimmune prostatitis antigen 1

MMRRC Submission

040398-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R2437 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122863806-122896623 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 122877614 bp (GRCm39)

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: 148,031,075 (GRCm39)	*635W	probably null	Het
Anxa2	A	G	9: 69,397,046 (GRCm39)	Y317C	probably damaging	Het
Arhgef26	T	C	3: 62,340,002 (GRCm39)	S675P	probably damaging	Het
Bltp1	T	A	3: 37,012,834 (GRCm39)		probably null	Het
Camk2d	A	G	3: 126,628,277 (GRCm39)	N53S	probably damaging	Het
Carns1	A	T	19: 4,215,782 (GRCm39)	M800K	possibly damaging	Het
Ces1f	A	T	8: 93,996,767 (GRCm39)		probably null	Het
Chrne	T	A	11: 70,506,086 (GRCm39)	D426V	possibly damaging	Het
Cntfr	T	C	4: 41,671,035 (GRCm39)	T43A	probably damaging	Het
Cntn5	A	T	9: 10,048,758 (GRCm39)	C63*	probably null	Het
Col12a1	G	A	9: 79,599,501 (GRCm39)	T884I	probably damaging	Het
Dnah5	T	C	15: 28,307,537 (GRCm39)		probably null	Het
Dnajc2	A	T	5: 21,965,389 (GRCm39)	S537R	probably benign	Het
Dnajc25	T	C	4: 59,020,234 (GRCm39)	I100T	probably damaging	Het
Ephx1	C	A	1: 180,823,661 (GRCm39)	G149C	probably damaging	Het
Fam163b	G	T	2: 27,002,698 (GRCm39)	P100T	probably damaging	Het
Fbxl9	A	G	8: 106,039,675 (GRCm39)		probably null	Het
Fgd5	A	T	6: 92,039,850 (GRCm39)	R1017*	probably null	Het
Fibin	A	T	2: 110,192,848 (GRCm39)	L98Q	probably damaging	Het
Fndc3b	A	T	3: 27,505,481 (GRCm39)	L929H	probably damaging	Het
Frem1	T	A	4: 82,918,410 (GRCm39)	S512C	probably damaging	Het
Gm4922	T	A	10: 18,659,829 (GRCm39)	M298L	probably benign	Het
Gstm2	G	A	3: 107,891,369 (GRCm39)		probably benign	Het
Gtf3c2	A	G	5: 31,317,042 (GRCm39)		probably null	Het
Ibtk	A	C	9: 85,590,178 (GRCm39)	L1026V	probably benign	Het
Il9	T	A	13: 56,629,684 (GRCm39)		probably benign	Het
Inpp4a	T	C	1: 37,432,037 (GRCm39)	S146P	probably damaging	Het
Kcnab1	G	T	3: 65,264,435 (GRCm39)		probably benign	Het
Mgat4c	T	C	10: 102,224,436 (GRCm39)	S217P	probably damaging	Het
Mr1	T	C	1: 155,008,277 (GRCm39)	M233V	probably benign	Het
Ncoa2	G	A	1: 13,218,584 (GRCm39)	T1415I	probably damaging	Het
Oasl2	G	A	5: 115,049,357 (GRCm39)	D486N	probably benign	Het
Or1j14	A	T	2: 36,418,258 (GRCm39)	Y278F	probably damaging	Het
Or9a7	G	A	6: 40,521,856 (GRCm39)	T19I	probably benign	Het
Or9s27	T	C	1: 92,516,688 (GRCm39)	I212T	possibly damaging	Het
Pcnx4	T	C	12: 72,588,587 (GRCm39)	F132L	probably damaging	Het
Pde5a	T	A	3: 122,636,702 (GRCm39)	L717Q	probably damaging	Het
Peli2	A	T	14: 48,465,389 (GRCm39)		probably benign	Het
Phf14	A	G	6: 11,962,657 (GRCm39)	S435G	probably damaging	Het
Plekhg1	T	A	10: 3,913,564 (GRCm39)	H1095Q	probably damaging	Het
Plekhh2	A	G	17: 84,893,907 (GRCm39)		probably null	Het
Plekho1	T	G	3: 95,899,497 (GRCm39)	N99H	probably damaging	Het
Plxnc1	T	A	10: 94,742,395 (GRCm39)	K457N	probably benign	Het
Ppp1r3a	T	C	6: 14,718,322 (GRCm39)	E864G	probably benign	Het
Prkab2	T	A	3: 97,574,715 (GRCm39)	L237Q	probably damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Ptger3	T	A	3: 157,273,207 (GRCm39)	C185S	probably damaging	Het
Ptprk	T	C	10: 28,230,709 (GRCm39)	Y267H	probably damaging	Het
Pum2	A	G	12: 8,794,654 (GRCm39)	I715V	probably benign	Het
R3hdm1	T	C	1: 128,114,573 (GRCm39)	V518A	probably damaging	Het
Rab3d	T	C	9: 21,827,147 (GRCm39)	I28V	probably damaging	Het
Rad54b	T	C	4: 11,606,272 (GRCm39)	L560P	probably damaging	Het
Rgs20	A	G	1: 5,140,370 (GRCm39)		probably null	Het
Sesn1	T	A	10: 41,781,315 (GRCm39)	L460H	probably damaging	Het
Slc39a14	A	G	14: 70,553,885 (GRCm39)		probably null	Het
Slco6c1	T	A	1: 96,990,201 (GRCm39)	H663L	probably benign	Het
Snx13	T	A	12: 35,132,926 (GRCm39)	C63S	probably benign	Het
Spmip4	T	A	6: 50,560,959 (GRCm39)	D212V	probably damaging	Het
Strip2	T	C	6: 29,941,940 (GRCm39)		probably null	Het
Syncrip	A	G	9: 88,361,620 (GRCm39)		probably benign	Het
Taf15	A	G	11: 83,395,579 (GRCm39)		probably benign	Het
Tbc1d8	T	C	1: 39,444,368 (GRCm39)		probably null	Het
Tmem212	A	T	3: 27,940,628 (GRCm39)	L63Q	possibly damaging	Het
Tmem63a	G	A	1: 180,790,054 (GRCm39)		probably null	Het
Trpm5	C	A	7: 142,636,298 (GRCm39)	V525L	probably benign	Het
Ttn	A	G	2: 76,537,171 (GRCm39)	L34919P	probably damaging	Het
Ttn	T	C	2: 76,694,619 (GRCm39)		probably benign	Het
Tuba4a	T	C	1: 75,194,069 (GRCm39)	I4V	possibly damaging	Het
Ubr4	A	G	4: 139,200,853 (GRCm39)	D4679G	possibly damaging	Het
Usp2	T	G	9: 44,003,445 (GRCm39)	V448G	probably damaging	Het
Usp3	A	G	9: 66,453,024 (GRCm39)		probably null	Het
Zfp341	T	A	2: 154,470,721 (GRCm39)	V246E	probably damaging	Het

Other mutations in Tgm4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00432:Tgm4	APN	9	122,891,447 (GRCm39)	unclassified	probably benign
IGL01402:Tgm4	APN	9	122,880,519 (GRCm39)	missense	possibly damaging	0.82
IGL02000:Tgm4	APN	9	122,885,531 (GRCm39)	missense	probably damaging	1.00
IGL02120:Tgm4	APN	9	122,875,594 (GRCm39)	missense	probably damaging	0.98
IGL03130:Tgm4	APN	9	122,885,580 (GRCm39)	missense	probably damaging	1.00
IGL03188:Tgm4	APN	9	122,874,101 (GRCm39)	missense	probably null	0.06
R0329:Tgm4	UTSW	9	122,877,622 (GRCm39)	critical splice donor site	probably null
R0480:Tgm4	UTSW	9	122,891,484 (GRCm39)	missense	probably benign
R0644:Tgm4	UTSW	9	122,880,523 (GRCm39)	missense	probably damaging	1.00
R0990:Tgm4	UTSW	9	122,875,576 (GRCm39)	missense	probably benign	0.02
R1604:Tgm4	UTSW	9	122,874,129 (GRCm39)	missense	probably benign	0.39
R1644:Tgm4	UTSW	9	122,880,481 (GRCm39)	missense	probably damaging	1.00
R2056:Tgm4	UTSW	9	122,890,835 (GRCm39)	missense	probably damaging	1.00
R2058:Tgm4	UTSW	9	122,890,835 (GRCm39)	missense	probably damaging	1.00
R2059:Tgm4	UTSW	9	122,890,835 (GRCm39)	missense	probably damaging	1.00
R2076:Tgm4	UTSW	9	122,880,160 (GRCm39)	missense	probably benign	0.24
R4392:Tgm4	UTSW	9	122,895,817 (GRCm39)	missense	probably benign	0.10
R4407:Tgm4	UTSW	9	122,885,595 (GRCm39)	missense	probably damaging	1.00
R4752:Tgm4	UTSW	9	122,880,451 (GRCm39)	missense	probably damaging	1.00
R5288:Tgm4	UTSW	9	122,885,559 (GRCm39)	missense	probably damaging	1.00
R5365:Tgm4	UTSW	9	122,895,866 (GRCm39)	missense	probably damaging	1.00
R5386:Tgm4	UTSW	9	122,885,559 (GRCm39)	missense	probably damaging	1.00
R5790:Tgm4	UTSW	9	122,890,808 (GRCm39)	missense	probably damaging	0.98
R5890:Tgm4	UTSW	9	122,890,703 (GRCm39)	missense	probably damaging	1.00
R6102:Tgm4	UTSW	9	122,885,600 (GRCm39)	missense	probably benign
R6358:Tgm4	UTSW	9	122,885,583 (GRCm39)	missense	probably damaging	1.00
R6956:Tgm4	UTSW	9	122,893,768 (GRCm39)	missense	possibly damaging	0.93
R6966:Tgm4	UTSW	9	122,880,207 (GRCm39)	missense	possibly damaging	0.68
R7091:Tgm4	UTSW	9	122,869,525 (GRCm39)	missense	probably damaging	1.00
R7258:Tgm4	UTSW	9	122,891,556 (GRCm39)	missense	probably benign	0.02
R7313:Tgm4	UTSW	9	122,891,556 (GRCm39)	missense	probably benign	0.02
R7369:Tgm4	UTSW	9	122,885,749 (GRCm39)	critical splice donor site	probably null
R7802:Tgm4	UTSW	9	122,880,401 (GRCm39)	intron	probably benign
R8219:Tgm4	UTSW	9	122,874,117 (GRCm39)	missense	probably benign
R8787:Tgm4	UTSW	9	122,890,910 (GRCm39)	missense	probably damaging	1.00
R8936:Tgm4	UTSW	9	122,869,541 (GRCm39)	missense	possibly damaging	0.92
R9045:Tgm4	UTSW	9	122,877,616 (GRCm39)	missense	possibly damaging	0.94
R9328:Tgm4	UTSW	9	122,885,697 (GRCm39)	missense	possibly damaging	0.93
R9359:Tgm4	UTSW	9	122,881,837 (GRCm39)	missense	probably damaging	1.00
R9403:Tgm4	UTSW	9	122,881,837 (GRCm39)	missense	probably damaging	1.00
R9471:Tgm4	UTSW	9	122,869,444 (GRCm39)	missense	probably benign
R9746:Tgm4	UTSW	9	122,875,634 (GRCm39)	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