Mutagenetix > Incidental Mutation

Incidental Mutation 'R7313:Tgm4'

567762

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

045411-MU

Accession Numbers

Essential gene?

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

Stock #

R7313 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

122863806-122896623 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 122891556 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 557 (D557G)

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 benign
Transcript: ENSMUST00000026893
AA Change: D557G

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000026893
Gene: ENSMUSG00000025787
AA Change: D557G

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 benign
Transcript: ENSMUST00000215247
AA Change: D133G

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000217607

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.8%

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: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	A	G	5: 8,773,187 (GRCm39)	N805S	probably damaging	Het
Acat2	A	G	17: 13,178,893 (GRCm39)	V60A	probably benign	Het
Adam6b	A	G	12: 113,454,754 (GRCm39)	I524V	probably benign	Het
Adamts16	C	T	13: 70,921,074 (GRCm39)	W590*	probably null	Het
Adamts9	C	T	6: 92,835,102 (GRCm39)	G1257D	probably damaging	Het
Adgrf5	C	T	17: 43,755,974 (GRCm39)	T644I	probably benign	Het
Adgrf5	T	G	17: 43,763,368 (GRCm39)		probably null	Het
Adgrv1	T	C	13: 81,668,634 (GRCm39)	T2641A	possibly damaging	Het
Agap3	T	C	5: 24,657,382 (GRCm39)	F60L	probably benign	Het
Akap9	C	A	5: 4,054,933 (GRCm39)	T1626K	probably damaging	Het
Ampd3	C	A	7: 110,405,261 (GRCm39)	D603E	probably damaging	Het
Angpt4	T	A	2: 151,767,326 (GRCm39)	V119E	probably benign	Het
Atp6v1a	T	C	16: 43,934,980 (GRCm39)	T70A	probably benign	Het
B4galt3	T	A	1: 171,100,319 (GRCm39)	I163N	probably damaging	Het
Borcs5	C	T	6: 134,687,143 (GRCm39)	T167M	probably damaging	Het
Btbd19	T	A	4: 116,978,616 (GRCm39)	S156C	probably damaging	Het
Camkk2	C	T	5: 122,875,574 (GRCm39)	R492Q	possibly damaging	Het
Casr	T	C	16: 36,330,033 (GRCm39)	I434V	probably damaging	Het
Cd4	G	T	6: 124,844,066 (GRCm39)	T394K	probably benign	Het
Cps1	T	C	1: 67,237,517 (GRCm39)	L1006P	probably damaging	Het
Crx	G	A	7: 15,601,857 (GRCm39)	P274S	probably damaging	Het
Crybg1	T	A	10: 43,865,107 (GRCm39)	I1457F	probably damaging	Het
Cul4a	C	A	8: 13,171,676 (GRCm39)		probably benign	Het
D430041D05Rik	T	A	2: 104,085,910 (GRCm39)	T196S	probably benign	Het
Dnah3	T	C	7: 119,580,567 (GRCm39)	E1995G	probably benign	Het
Dnm1	T	A	2: 32,226,021 (GRCm39)	T353S	probably damaging	Het
Ect2l	T	A	10: 18,044,149 (GRCm39)	T329S	probably damaging	Het
Elp2	T	A	18: 24,742,716 (GRCm39)	S83T	probably benign	Het
Exosc7	A	G	9: 122,948,013 (GRCm39)	T39A	probably benign	Het
Fam135a	C	A	1: 24,096,473 (GRCm39)	V91F	probably damaging	Het
Gab2	G	T	7: 96,731,005 (GRCm39)		probably benign	Het
Gbf1	A	T	19: 46,268,793 (GRCm39)	I1408F	possibly damaging	Het
Glis3	C	T	19: 28,508,419 (GRCm39)	E522K	probably damaging	Het
Gm10375	A	T	14: 43,842,314 (GRCm39)	C139S	possibly damaging	Het
Gm26558	T	C	2: 70,492,211 (GRCm39)	E81G	unknown	Het
Gm35315	C	T	5: 110,227,091 (GRCm39)	C116Y	probably benign	Het
Gm3676	T	A	14: 41,366,064 (GRCm39)	I84F	probably damaging	Het
Gm7145	T	A	1: 117,913,932 (GRCm39)	H271Q	probably damaging	Het
Gpat2	T	A	2: 127,270,215 (GRCm39)	I76N	probably damaging	Het
Hipk1	A	T	3: 103,685,574 (GRCm39)	S14T	unknown	Het
Hlcs	C	A	16: 94,068,362 (GRCm39)	S286I	probably damaging	Het
Ighg1	A	T	12: 113,293,078 (GRCm39)	F204Y		Het
Igsf10	T	C	3: 59,236,837 (GRCm39)	I1115V	probably benign	Het
Klk7	A	T	7: 43,462,299 (GRCm39)	H97L	probably damaging	Het
Kmt2d	A	T	15: 98,754,504 (GRCm39)	D1605E	unknown	Het
Leng8	T	A	7: 4,142,525 (GRCm39)	I49N	possibly damaging	Het
Lingo4	A	T	3: 94,310,451 (GRCm39)	D463V	possibly damaging	Het
Lrp1	T	A	10: 127,389,337 (GRCm39)	N3193I	probably damaging	Het
Lrrc7	T	A	3: 157,866,111 (GRCm39)	Y1210F	probably damaging	Het
Mki67	G	C	7: 135,296,400 (GRCm39)	A2878G	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Mtcl3	T	A	10: 29,072,875 (GRCm39)	Y722*	probably null	Het
Mucl2	C	T	15: 103,929,445 (GRCm39)		probably null	Het
Myh6	A	T	14: 55,197,727 (GRCm39)	D470E	probably benign	Het
Myo1e	T	C	9: 70,266,667 (GRCm39)		probably null	Het
Myo7a	G	A	7: 97,713,402 (GRCm39)	R1647W	probably damaging	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nmral1	C	T	16: 4,531,660 (GRCm39)	M198I	probably benign	Het
Nrap	C	A	19: 56,330,700 (GRCm39)	L1120F	probably damaging	Het
Nup155	T	A	15: 8,184,406 (GRCm39)	I1267N	probably damaging	Het
Obscn	G	A	11: 58,898,414 (GRCm39)	P6616S	unknown	Het
Ocstamp	T	G	2: 165,239,229 (GRCm39)	D319A	probably damaging	Het
Ooep	T	C	9: 78,285,433 (GRCm39)	D61G	probably damaging	Het
Or10p1	A	G	10: 129,443,949 (GRCm39)	S134P	probably benign	Het
Or1e25	A	T	11: 73,493,810 (GRCm39)	I135F	probably damaging	Het
Or52ad1	A	G	7: 102,995,538 (GRCm39)	V199A	probably benign	Het
Or6c5c	T	C	10: 129,298,856 (GRCm39)	S104P	probably damaging	Het
Or7g35	A	G	9: 19,495,938 (GRCm39)	Y35C	probably damaging	Het
Otoa	A	G	7: 120,701,765 (GRCm39)	E148G	probably benign	Het
Ovgp1	A	T	3: 105,894,387 (GRCm39)	D720V	unknown	Het
Padi2	T	A	4: 140,660,079 (GRCm39)	F294I	probably damaging	Het
Pcdha7	T	A	18: 37,107,471 (GRCm39)	N165K	probably damaging	Het
Pcdhb6	C	A	18: 37,468,261 (GRCm39)	P394H	probably damaging	Het
Pcdhga6	T	C	18: 37,841,072 (GRCm39)	V264A	possibly damaging	Het
Pik3ap1	G	T	19: 41,284,815 (GRCm39)	D623E	possibly damaging	Het
Prdm10	A	T	9: 31,268,456 (GRCm39)	K802*	probably null	Het
Ptgfrn	G	A	3: 100,980,363 (GRCm39)	L326F	possibly damaging	Het
Rgsl1	T	G	1: 153,683,622 (GRCm39)		probably null	Het
Rock1	T	G	18: 10,129,317 (GRCm39)	T347P	possibly damaging	Het
Rprd2	G	A	3: 95,684,022 (GRCm39)	P338S	probably damaging	Het
Sdk1	A	T	5: 141,923,377 (GRCm39)	N333Y	probably damaging	Het
Setd4	T	A	16: 93,388,132 (GRCm39)	H118L	probably benign	Het
Sirt3	G	A	7: 140,458,039 (GRCm39)	P37S		Het
Slc16a9	G	T	10: 70,119,000 (GRCm39)	G440W	probably damaging	Het
Slc22a23	T	A	13: 34,367,161 (GRCm39)	I616F	probably damaging	Het
Slc30a8	A	C	15: 52,180,707 (GRCm39)	D102A	probably damaging	Het
Slc6a4	T	A	11: 76,901,527 (GRCm39)	D87E	possibly damaging	Het
Slc9a4	A	C	1: 40,668,663 (GRCm39)	T769P	probably benign	Het
Sspo	A	T	6: 48,431,762 (GRCm39)	Y685F	probably damaging	Het
Sspo	C	A	6: 48,450,390 (GRCm39)	Q2560K	probably benign	Het
Stpg1	T	A	4: 135,256,827 (GRCm39)	L206Q	probably damaging	Het
Stt3b	A	T	9: 115,095,183 (GRCm39)	Y283N	probably damaging	Het
Sult4a1	T	C	15: 83,970,814 (GRCm39)	E197G	probably damaging	Het
Syne1	T	G	10: 4,997,635 (GRCm39)	D444A	probably damaging	Het
Tex15	T	A	8: 34,064,845 (GRCm39)	V1425E	possibly damaging	Het
Tmcc3	A	G	10: 94,266,434 (GRCm39)		probably benign	Het
Tnfrsf8	T	A	4: 145,000,952 (GRCm39)	N385Y	probably benign	Het
Ttc4	T	C	4: 106,536,017 (GRCm39)	D15G	possibly damaging	Het
Tut1	A	G	19: 8,941,413 (GRCm39)	N400S	probably benign	Het
Usp39	T	C	6: 72,313,413 (GRCm39)	K259R	probably benign	Het
Vmn1r215	C	T	13: 23,260,484 (GRCm39)	H175Y	probably benign	Het
Vmn1r36	A	T	6: 66,693,107 (GRCm39)	M256K	probably benign	Het
Zfp128	T	A	7: 12,624,461 (GRCm39)	H276Q	possibly damaging	Het
Zfp276	T	C	8: 123,994,562 (GRCm39)	M543T	probably damaging	Het
Zfp354c	A	T	11: 50,705,483 (GRCm39)	Y531N	probably damaging	Het
Zfp532	T	A	18: 65,756,076 (GRCm39)	M3K	probably damaging	Het
Zfp64	T	G	2: 168,741,810 (GRCm39)	K373Q	probably damaging	Het
Zfp764l1	C	T	7: 126,990,856 (GRCm39)	S377N	probably benign	Het
Zfp983	T	G	17: 21,880,413 (GRCm39)	S114A	probably damaging	Het
Zranb1	G	A	7: 132,584,481 (GRCm39)	R583K	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
R2437:Tgm4	UTSW	9	122,877,614 (GRCm39)	nonsense	probably null
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
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'- AAATCCATTTGGTCCCTGAGG -3'
(R):5'- TCCTTAGGAATGCAATTGACCC -3'

Sequencing Primer
(F):5'- AGAGAATAGGATTCCTCTGTGGCC -3'
(R):5'- TAGGAATGCAATTGACCCAAAATCAG -3'

Posted On

2019-06-26