Mutagenetix > Incidental Mutation

Incidental Mutation 'R9300:Tgm1'

704891

Institutional Source

Beutler Lab

Gene Symbol

Tgm1

Ensembl Gene

ENSMUSG00000022218

Gene Name

transglutaminase 1, K polypeptide

Synonyms

TG K, 2310004J08Rik, TGase1, TGase 1, K polypeptide, protein-glutamine-gamma-glutamyltransferase

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.930) question?

Stock #

R9300 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

55937466-55951378 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 55942303 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 683 (H683Y)

Ref Sequence

ENSEMBL: ENSMUSP00000002389 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002389] [ENSMUST00000168729] [ENSMUST00000178034]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000002389
AA Change: H683Y

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000002389
Gene: ENSMUSG00000022218
AA Change: H683Y

Domain	Start	End	E-Value	Type
low complexity region	13	45	N/A	INTRINSIC
low complexity region	50	63	N/A	INTRINSIC
low complexity region	65	95	N/A	INTRINSIC
Pfam:Transglut_N	109	228	5.5e-35	PFAM
TGc	368	461	1.7e-43	SMART
low complexity region	550	561	N/A	INTRINSIC
Pfam:Transglut_C	578	682	1.5e-22	PFAM
Pfam:Transglut_C	690	787	1e-20	PFAM
low complexity region	788	804	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000168729
AA Change: H683Y

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000128090
Gene: ENSMUSG00000022218
AA Change: H683Y

Domain	Start	End	E-Value	Type
low complexity region	13	45	N/A	INTRINSIC
low complexity region	50	63	N/A	INTRINSIC
low complexity region	65	95	N/A	INTRINSIC
Pfam:Transglut_N	109	228	5.5e-35	PFAM
TGc	368	461	1.7e-43	SMART
low complexity region	550	561	N/A	INTRINSIC
Pfam:Transglut_C	578	682	1.5e-22	PFAM
Pfam:Transglut_C	690	787	1e-20	PFAM
low complexity region	788	804	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000178034
AA Change: H683Y

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000137642
Gene: ENSMUSG00000022218
AA Change: H683Y

Domain	Start	End	E-Value	Type
low complexity region	13	45	N/A	INTRINSIC
low complexity region	50	63	N/A	INTRINSIC
low complexity region	65	95	N/A	INTRINSIC
Pfam:Transglut_N	110	226	1.2e-32	PFAM
TGc	368	461	1.7e-43	SMART
low complexity region	550	561	N/A	INTRINSIC
Pfam:Transglut_C	578	682	3.6e-24	PFAM
Pfam:Transglut_C	690	787	1.3e-20	PFAM
low complexity region	788	804	N/A	INTRINSIC

Coding Region Coverage

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

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a membrane protein that catalyzes the addition of an alkyl group from an akylamine to a glutamine residue of a protein, forming an alkylglutamine in the protein. This protein alkylation leads to crosslinking of proteins and catenation of polyamines to proteins. This gene contains either one or two copies of a 22 nt repeat unit in its 3' UTR. Mutations in this gene have been associated with autosomal recessive lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE). [provided by RefSeq, Jul 2008]
PHENOTYPE: Newborn mice homozygous for a knock-out allele are small and hypoactive and die within hours of birth displaying failure to suckle, progressive dehydration, and epidermal defects including a reddish, tight and wrinkled skin, hyperkeratosis, and impaired skin barrier function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	G	A	5: 8,875,614 (GRCm39)	V596I	probably benign	Het
Acad8	A	T	9: 26,888,928 (GRCm39)	H371Q	probably damaging	Het
Actn3	G	T	19: 4,921,656 (GRCm39)	R175S	probably benign	Het
Adamts9	G	T	6: 92,864,371 (GRCm39)	D780E	probably benign	Het
AK157302	C	A	13: 21,679,537 (GRCm39)	T21K	probably benign	Het
Ank3	A	T	10: 69,706,872 (GRCm39)	H329L	unknown	Het
Ankrd36	A	G	11: 5,519,979 (GRCm39)	H18R	possibly damaging	Het
Anks1b	T	A	10: 90,412,966 (GRCm39)	V38D	possibly damaging	Het
Apbb2	A	T	5: 66,470,677 (GRCm39)	L520H	probably damaging	Het
Arid1b	C	A	17: 5,293,274 (GRCm39)	P731T	probably damaging	Het
Atp1a4	A	G	1: 172,067,398 (GRCm39)	F578S	probably damaging	Het
Atp6v0a2	A	T	5: 124,789,312 (GRCm39)	I360F	probably damaging	Het
Bcas3	A	T	11: 85,448,184 (GRCm39)	I600F	probably damaging	Het
C1qtnf7	T	G	5: 43,766,441 (GRCm39)	C20W	possibly damaging	Het
Cadm1	A	T	9: 47,708,821 (GRCm39)	K184*	probably null	Het
Ccdc138	A	T	10: 58,343,448 (GRCm39)	H101L	probably benign	Het
Cep120	T	A	18: 53,852,369 (GRCm39)	N503I	probably damaging	Het
Chil4	T	C	3: 106,109,874 (GRCm39)	T380A	probably benign	Het
Clip2	A	G	5: 134,526,942 (GRCm39)		probably null	Het
Cyp3a11	G	A	5: 145,799,164 (GRCm39)	P341L	possibly damaging	Het
Cyp3a41a	G	C	5: 145,656,906 (GRCm39)		probably benign	Het
Dcaf1	A	G	9: 106,725,042 (GRCm39)	I509M	possibly damaging	Het
Dcaf13	T	C	15: 39,010,102 (GRCm39)	S429P	probably damaging	Het
Eln	A	G	5: 134,758,220 (GRCm39)	V151A	unknown	Het
Endou	T	G	15: 97,610,954 (GRCm39)	M377L	probably benign	Het
Etfa	A	G	9: 55,396,152 (GRCm39)	I138T	probably damaging	Het
Fbxw10	T	A	11: 62,768,109 (GRCm39)	S982T	probably benign	Het
Gm9602	A	T	14: 15,933,435 (GRCm39)	R47*	probably null	Het
Hectd4	G	A	5: 121,486,952 (GRCm39)	V3316I	probably benign	Het
Hif1a	T	C	12: 73,987,302 (GRCm39)	L477S	probably benign	Het
Icam5	G	C	9: 20,946,846 (GRCm39)	G458A	probably benign	Het
Itm2b	A	T	14: 73,603,896 (GRCm39)	D106E	probably benign	Het
Kdm4d	G	A	9: 14,375,336 (GRCm39)	T174M	probably damaging	Het
Kif16b	G	T	2: 142,541,207 (GRCm39)	D1364E	probably benign	Het
Lbhd1	G	A	19: 8,861,550 (GRCm39)	V61M	probably damaging	Het
Lclat1	T	A	17: 73,546,919 (GRCm39)	S279T	probably benign	Het
Lhx4	G	A	1: 155,580,956 (GRCm39)	L190F	probably damaging	Het
Lima1	C	T	15: 99,704,320 (GRCm39)	S283N	probably benign	Het
Magi1	C	A	6: 93,724,209 (GRCm39)	D496Y	probably damaging	Het
Map1a	T	C	2: 121,133,446 (GRCm39)	S1421P	probably damaging	Het
Map3k20	C	T	2: 72,202,257 (GRCm39)	H163Y	probably damaging	Het
Mier3	T	G	13: 111,822,890 (GRCm39)		probably null	Het
Mllt3	G	A	4: 87,692,284 (GRCm39)	Q560*	probably null	Het
Mmp25	T	A	17: 23,851,728 (GRCm39)	D327V	probably benign	Het
Nckap5	G	A	1: 125,909,423 (GRCm39)	Q1603*	probably null	Het
Nell1	G	A	7: 49,712,368 (GRCm39)	V63I	probably benign	Het
Or10al3	C	T	17: 38,011,815 (GRCm39)	P85S	probably damaging	Het
Or2ag2b	A	T	7: 106,418,111 (GRCm39)	I274F	probably benign	Het
Or8a1	A	C	9: 37,641,578 (GRCm39)	S234A	probably benign	Het
Pde12	C	T	14: 26,386,931 (GRCm39)	E526K	probably damaging	Het
Pfn4	T	C	12: 4,825,442 (GRCm39)	V93A	possibly damaging	Het
Poglut2	A	G	1: 44,156,362 (GRCm39)	I75T	possibly damaging	Het
Ppp2r3d	A	G	9: 124,423,977 (GRCm38)	S60P	unknown	Het
Prelp	T	C	1: 133,842,257 (GRCm39)	H296R	probably damaging	Het
Prickle1	T	C	15: 93,398,749 (GRCm39)	E693G	possibly damaging	Het
Rars1	A	G	11: 35,706,488 (GRCm39)	L477P	probably damaging	Het
Rasal1	G	A	5: 120,802,172 (GRCm39)	R328H	probably damaging	Het
Rasef	A	G	4: 73,659,393 (GRCm39)	F220S	probably benign	Het
Rif1	C	T	2: 52,001,151 (GRCm39)	S1535L	probably damaging	Het
Rnf17	T	C	14: 56,697,495 (GRCm39)	I463T	possibly damaging	Het
Ryr3	A	T	2: 112,690,695 (GRCm39)	D1138E	probably benign	Het
Scn9a	T	A	2: 66,335,236 (GRCm39)	Y1251F	probably benign	Het
Sdk2	A	G	11: 113,715,856 (GRCm39)	W1568R	possibly damaging	Het
Senp6	A	G	9: 80,049,433 (GRCm39)	E1019G	probably damaging	Het
Shh	A	G	5: 28,663,461 (GRCm39)	Y236H	probably damaging	Het
Sin3a	A	G	9: 57,014,744 (GRCm39)	D655G	probably damaging	Het
Slc35a4	C	T	18: 36,815,274 (GRCm39)	P35S	probably damaging	Het
Slc35g1	T	C	19: 38,384,633 (GRCm39)	L24P	probably benign	Het
Slc39a4	G	T	15: 76,498,759 (GRCm39)	Q312K	probably damaging	Het
Slc6a5	A	T	7: 49,601,175 (GRCm39)	I659F	probably damaging	Het
Slc7a4	T	C	16: 17,392,399 (GRCm39)	Y345C	probably benign	Het
Slco6c1	G	T	1: 96,993,809 (GRCm39)	R645S	probably benign	Het
Soat1	T	C	1: 156,268,923 (GRCm39)	Y209C	probably benign	Het
Tbc1d9b	T	C	11: 50,054,714 (GRCm39)	S953P	probably benign	Het
Tmem98	G	A	11: 80,708,432 (GRCm39)	R134Q	probably damaging	Het
Trpm3	A	C	19: 22,955,745 (GRCm39)	M1107L	possibly damaging	Het
Vmn1r11	G	A	6: 57,114,872 (GRCm39)	V179I	probably benign	Het
Vmn1r119	G	T	7: 20,745,638 (GRCm39)	T248K	probably damaging	Het
Vmn1r236	T	A	17: 21,506,945 (GRCm39)	I21N	possibly damaging	Het
Vmn2r24	A	G	6: 123,793,030 (GRCm39)	T786A	possibly damaging	Het
Vstm5	A	T	9: 15,168,585 (GRCm39)	I50F	probably damaging	Het
Wdr1	T	C	5: 38,685,255 (GRCm39)	D572G	probably damaging	Het
Xaf1	T	C	11: 72,192,517 (GRCm39)	F5S	probably benign	Het
Zan	A	T	5: 137,468,519 (GRCm39)		probably null	Het
Zfp697	T	C	3: 98,334,979 (GRCm39)	V248A	possibly damaging	Het
Zftraf1	C	A	15: 76,530,541 (GRCm39)	V260L	probably benign	Het
Zkscan3	T	A	13: 21,577,667 (GRCm39)	T249S	unknown	Het
Znfx1	A	G	2: 166,897,860 (GRCm39)	Y355H	probably damaging	Het

Other mutations in Tgm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02206:Tgm1	APN	14	55,942,392 (GRCm39)	missense	possibly damaging	0.92
IGL02934:Tgm1	APN	14	55,947,446 (GRCm39)	missense	probably damaging	1.00
IGL03243:Tgm1	APN	14	55,943,364 (GRCm39)	missense	probably damaging	0.98
IGL03282:Tgm1	APN	14	55,948,527 (GRCm39)	missense	probably damaging	1.00
PIT4458001:Tgm1	UTSW	14	55,950,022 (GRCm39)	missense	unknown
R0277:Tgm1	UTSW	14	55,950,109 (GRCm39)	unclassified	probably benign
R0277:Tgm1	UTSW	14	55,948,384 (GRCm39)	unclassified	probably benign
R0478:Tgm1	UTSW	14	55,937,791 (GRCm39)	nonsense	probably null
R1349:Tgm1	UTSW	14	55,948,658 (GRCm39)	unclassified	probably benign
R1594:Tgm1	UTSW	14	55,946,976 (GRCm39)	missense	probably damaging	0.96
R1776:Tgm1	UTSW	14	55,946,854 (GRCm39)	missense	probably damaging	0.99
R1852:Tgm1	UTSW	14	55,942,398 (GRCm39)	missense	probably damaging	1.00
R1988:Tgm1	UTSW	14	55,943,034 (GRCm39)	missense	probably benign	0.00
R2064:Tgm1	UTSW	14	55,946,928 (GRCm39)	missense	probably damaging	1.00
R2139:Tgm1	UTSW	14	55,947,000 (GRCm39)	missense	probably damaging	1.00
R2427:Tgm1	UTSW	14	55,949,557 (GRCm39)	critical splice donor site	probably null
R3710:Tgm1	UTSW	14	55,950,052 (GRCm39)	unclassified	probably benign
R3917:Tgm1	UTSW	14	55,950,214 (GRCm39)	splice site	probably benign
R4697:Tgm1	UTSW	14	55,943,138 (GRCm39)	missense	probably benign	0.05
R4804:Tgm1	UTSW	14	55,943,076 (GRCm39)	missense	probably benign	0.38
R5074:Tgm1	UTSW	14	55,947,392 (GRCm39)	missense	probably damaging	1.00
R5341:Tgm1	UTSW	14	55,937,705 (GRCm39)	missense	possibly damaging	0.90
R5346:Tgm1	UTSW	14	55,948,629 (GRCm39)	missense	probably damaging	0.99
R5557:Tgm1	UTSW	14	55,943,100 (GRCm39)	missense	probably benign	0.10
R5566:Tgm1	UTSW	14	55,949,893 (GRCm39)	missense	probably damaging	0.99
R5828:Tgm1	UTSW	14	55,943,011 (GRCm39)	missense	probably benign	0.38
R6802:Tgm1	UTSW	14	55,949,939 (GRCm39)	unclassified	probably benign
R7017:Tgm1	UTSW	14	55,942,398 (GRCm39)	missense	possibly damaging	0.76
R7094:Tgm1	UTSW	14	55,942,300 (GRCm39)	missense	possibly damaging	0.53
R7549:Tgm1	UTSW	14	55,943,360 (GRCm39)	missense	probably benign	0.02
R7731:Tgm1	UTSW	14	55,947,978 (GRCm39)	missense	probably benign	0.21
R7799:Tgm1	UTSW	14	55,949,932 (GRCm39)	missense	unknown
R7915:Tgm1	UTSW	14	55,937,883 (GRCm39)	missense	probably damaging	0.98
R7956:Tgm1	UTSW	14	55,946,352 (GRCm39)	missense	probably benign	0.01
R8098:Tgm1	UTSW	14	55,947,991 (GRCm39)	missense	probably damaging	1.00
R8190:Tgm1	UTSW	14	55,942,341 (GRCm39)	missense	probably damaging	1.00
R8423:Tgm1	UTSW	14	55,943,100 (GRCm39)	missense	probably benign	0.35
R8493:Tgm1	UTSW	14	55,937,754 (GRCm39)	missense	probably damaging	1.00
R8859:Tgm1	UTSW	14	55,949,686 (GRCm39)	missense	probably benign	0.01
R9170:Tgm1	UTSW	14	55,946,355 (GRCm39)	missense	probably damaging	1.00
R9365:Tgm1	UTSW	14	55,942,349 (GRCm39)	missense	probably damaging	0.96
R9407:Tgm1	UTSW	14	55,942,991 (GRCm39)	nonsense	probably null
R9499:Tgm1	UTSW	14	55,950,933 (GRCm39)	start gained	probably benign
R9520:Tgm1	UTSW	14	55,942,296 (GRCm39)	missense	probably damaging	1.00
R9552:Tgm1	UTSW	14	55,950,933 (GRCm39)	start gained	probably benign
R9664:Tgm1	UTSW	14	55,948,441 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACTTTAACCTTCTCCGAAAAGGC -3'
(R):5'- CCAAGTACTATGGCTTTCACATGG -3'

Sequencing Primer
(F):5'- AAGGCTCATCAGGGTAACTTGTCTC -3'
(R):5'- ACTATGGCTTTCACATGGAGGCC -3'

Posted On

2022-03-25