Mutagenetix > Incidental Mutation

Incidental Mutation 'R8787:Tgm4'

670712

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: 0.059) question?

Stock #

R8787 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

123034726-123067561 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 123061845 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 503 (G503V)

Ref Sequence

ENSEMBL: ENSMUSP00000026893 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026893] [ENSMUST00000140497] [ENSMUST00000215247] [ENSMUST00000217607]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000026893
AA Change: G503V

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

SMART Domains

Protein: ENSMUSP00000026893
Gene: ENSMUSG00000025787
AA Change: G503V

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: ENSMUST00000140497

SMART Domains

Protein: ENSMUSP00000122604
Gene: ENSMUSG00000025786

Domain	Start	End	E-Value	Type
low complexity region	25	35	N/A	INTRINSIC
transmembrane domain	46	68	N/A	INTRINSIC
transmembrane domain	73	95	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000215247
AA Change: G79V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000217607

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	T	11: 9,275,053	H511Y	possibly damaging	Het
Acp5	G	A	9: 22,127,193	R271*	probably null	Het
Adamts20	A	T	15: 94,286,413	V1503E	possibly damaging	Het
Adra2b	A	T	2: 127,364,497	E311D	probably benign	Het
Aldh18a1	T	C	19: 40,557,786	I556V	possibly damaging	Het
Alox12	C	A	11: 70,253,320	A116S	probably benign	Het
Alox5	G	T	6: 116,413,141	A552E	probably damaging	Het
Angpt1	G	T	15: 42,512,384	L159I	probably damaging	Het
Atp2b4	CTT	CTTTTT	1: 133,701,747		probably benign	Het
Bub1b	T	A	2: 118,631,824	L726I	probably damaging	Het
Ccdc78	A	T	17: 25,787,833	T165S	probably benign	Het
Ccdc88b	T	C	19: 6,847,423	D1323G	probably damaging	Het
Chek1	A	T	9: 36,713,737	C349*	probably null	Het
Clec1a	A	T	6: 129,451,654	L21Q	possibly damaging	Het
Col1a1	T	C	11: 94,942,808	V445A	possibly damaging	Het
Efcab7	A	G	4: 99,900,594	T313A	probably null	Het
Fads1	T	A	19: 10,192,961	Y288*	probably null	Het
Fgb	T	A	3: 83,046,662	T90S	probably benign	Het
Glg1	C	A	8: 111,161,482	V1026L	probably damaging	Het
Gm11397	G	A	13: 33,404,221	R263H	probably benign	Het
Gm30302	T	C	13: 49,785,228	Y1002C	probably damaging	Het
Hadh	T	A	3: 131,234,176	Y313F	probably damaging	Het
Htr4	A	G	18: 62,437,782	I303V	possibly damaging	Het
Kcnn3	A	G	3: 89,645,450	D487G	possibly damaging	Het
L1td1	G	A	4: 98,737,577	V604I	probably benign	Het
Lao1	A	G	4: 118,968,368	T462A	probably damaging	Het
Lefty1	C	A	1: 180,936,553	A86E	probably damaging	Het
Lmx1b	T	C	2: 33,639,510	Y79C		Het
Lrp2	A	G	2: 69,552,401	C47R	probably damaging	Het
Mrc2	A	T	11: 105,347,639	N1204I	probably benign	Het
Ncf1	A	C	5: 134,225,291	Y209*	probably null	Het
Olfr1080	G	A	2: 86,553,953	T57M	probably damaging	Het
Olfr128	T	A	17: 37,924,184	M206K	probably benign	Het
Olfr1368	A	T	13: 21,142,283	M258K	possibly damaging	Het
Oxtr	T	G	6: 112,489,910		probably benign	Het
Pcdhac1	T	C	18: 37,091,889	V585A	probably damaging	Het
Pdcd11	T	G	19: 47,108,580	L755R	probably damaging	Het
Pkhd1	A	G	1: 20,288,237	V2705A	probably damaging	Het
Plch2	C	A	4: 154,986,418	G1168V	probably benign	Het
Prpf39	T	C	12: 65,042,781	Y98H	possibly damaging	Het
R3hdm2	T	G	10: 127,457,652	S142A	probably damaging	Het
Rassf10	T	A	7: 112,955,531	D446E	probably benign	Het
Rgs13	T	C	1: 144,140,744	Y87C	probably damaging	Het
Smpd3	G	A	8: 106,255,745	R576C	probably damaging	Het
Srsf11	A	T	3: 158,012,400	D382E	unknown	Het
Stpg1	T	A	4: 135,533,797	M306K	probably benign	Het
Svil	C	T	18: 5,059,332	Q696*	probably null	Het
Syna	C	T	5: 134,559,869	M75I	probably benign	Het
Synj2	T	C	17: 5,986,239	F161S	possibly damaging	Het
Tek	T	C	4: 94,849,800	Y696H	probably damaging	Het
Tgfbr1	A	T	4: 47,405,555	D386V	possibly damaging	Het
Tnni3k	T	C	3: 154,940,054	E461G	probably damaging	Het
Tom1l1	A	T	11: 90,671,105	H232Q	probably benign	Het
Ubqln5	T	C	7: 104,129,122	N165S	probably benign	Het
Vmn1r24	G	A	6: 57,955,973	L187F	probably benign	Het
Vmn2r82	C	T	10: 79,378,060	T160I	probably damaging	Het
Vmn2r96	G	T	17: 18,597,988	G801V	probably damaging	Het
Vps39	A	G	2: 120,342,025	S176P	probably damaging	Het
Vsig10	C	A	5: 117,334,916	H191Q	probably benign	Het
Wtap	G	A	17: 12,967,601	S353L	possibly damaging	Het
Zmym4	T	G	4: 126,923,160	R248S	probably benign	Het
Zscan10	A	G	17: 23,610,037	S518G	probably benign	Het
Zscan29	A	T	2: 121,166,395	Y282N	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
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
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'- TTCTGATGACAAGCTCAACTCTCG -3'
(R):5'- GTGCCTGGATTCCTTGTCAC -3'

Sequencing Primer
(F):5'- GGACTCTGAACAACTCTCTTCAG -3'
(R):5'- TGGATTCCTTGTCACCACCAAAATG -3'

Posted On

2021-04-30