Mutagenetix > Incidental Mutation

Incidental Mutation 'R8190:Tgm1'

635110

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

067613-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.930) question?

Stock #

R8190 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

55937466-55951378 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 55942341 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 670 (G670D)

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 damaging
Transcript: ENSMUST00000002389
AA Change: G670D

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

SMART Domains

Protein: ENSMUSP00000002389
Gene: ENSMUSG00000022218
AA Change: G670D

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 damaging
Transcript: ENSMUST00000168729
AA Change: G670D

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

SMART Domains

Protein: ENSMUSP00000128090
Gene: ENSMUSG00000022218
AA Change: G670D

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 damaging
Transcript: ENSMUST00000178034
AA Change: G670D

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

SMART Domains

Protein: ENSMUSP00000137642
Gene: ENSMUSG00000022218
AA Change: G670D

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: 99.9%
10x: 99.5%
20x: 98.3%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr8	T	C	14: 29,706,030 (GRCm39)	V113A	possibly damaging	Het
Adcy7	A	G	8: 89,037,666 (GRCm39)	M245V	possibly damaging	Het
Adgra1	G	T	7: 139,456,034 (GRCm39)	R554L	probably benign	Het
Agfg2	T	A	5: 137,653,664 (GRCm39)	M351L	probably benign	Het
Ahnak	G	A	19: 8,979,619 (GRCm39)	G301D	probably benign	Het
Ambra1	C	T	2: 91,602,697 (GRCm39)	A227V	possibly damaging	Het
Ankrd24	T	A	10: 81,474,152 (GRCm39)	D166E	unknown	Het
Anks1	C	T	17: 28,205,778 (GRCm39)	P341S	probably benign	Het
Ano4	C	T	10: 88,808,607 (GRCm39)	D766N	probably benign	Het
Apol7e	A	T	15: 77,602,007 (GRCm39)	T202S	possibly damaging	Het
Arhgap44	C	A	11: 64,929,479 (GRCm39)	C275F	probably damaging	Het
Arl6ip4	A	C	5: 124,255,095 (GRCm39)	K95T	probably damaging	Het
Bbs9	T	C	9: 22,590,284 (GRCm39)	L674P	probably damaging	Het
Bmp4	T	A	14: 46,621,972 (GRCm39)	M191L	probably benign	Het
Celsr1	A	G	15: 85,787,090 (GRCm39)	L2753P	probably damaging	Het
Cerkl	T	A	2: 79,163,901 (GRCm39)	H473L	probably benign	Het
Cfap99	A	T	5: 34,482,502 (GRCm39)	T538S	possibly damaging	Het
Clock	A	T	5: 76,375,051 (GRCm39)	V706E	probably damaging	Het
Cpne6	T	C	14: 55,749,485 (GRCm39)	M15T	probably benign	Het
Deaf1	T	C	7: 140,894,324 (GRCm39)	D351G	probably damaging	Het
Dnajb8	C	T	6: 88,199,940 (GRCm39)	R159C	possibly damaging	Het
Eif3j1	A	T	2: 121,877,969 (GRCm39)	D119V	probably damaging	Het
Eps8l1	C	A	7: 4,474,297 (GRCm39)	S195Y	probably benign	Het
Exosc5	T	C	7: 25,365,769 (GRCm39)		probably null	Het
Fabp2	A	T	3: 122,690,419 (GRCm39)	H34L	probably benign	Het
Fbln5	T	A	12: 101,723,555 (GRCm39)	Q382L	probably damaging	Het
Fbxo34	C	A	14: 47,767,879 (GRCm39)	T464K	possibly damaging	Het
Fndc8	T	G	11: 82,788,686 (GRCm39)	V172G	probably damaging	Het
Frs2	C	T	10: 116,910,784 (GRCm39)	V193I	possibly damaging	Het
Gadd45a	A	G	6: 67,013,813 (GRCm39)	I44T	possibly damaging	Het
Gprin3	A	G	6: 59,331,456 (GRCm39)	S284P	possibly damaging	Het
Gsta4	T	C	9: 78,105,654 (GRCm39)	V28A	possibly damaging	Het
Herc1	T	A	9: 66,325,733 (GRCm39)	D1402E	probably benign	Het
Hipk2	A	T	6: 38,795,728 (GRCm39)	S180R	possibly damaging	Het
Hrg	A	T	16: 22,779,793 (GRCm39)	H357L	unknown	Het
Htr4	A	G	18: 62,570,971 (GRCm39)	Q342R	possibly damaging	Het
Impa1	A	G	3: 10,386,688 (GRCm39)	S184P	possibly damaging	Het
Iqgap3	A	T	3: 87,998,086 (GRCm39)	Q281L	probably damaging	Het
Kcnh8	C	T	17: 53,263,936 (GRCm39)	P811L	probably damaging	Het
Lpin1	T	C	12: 16,599,003 (GRCm39)	I628V		Het
Lrrc38	G	A	4: 143,077,303 (GRCm39)	G189R	probably damaging	Het
Mfn1	A	T	3: 32,622,538 (GRCm39)	I599F	possibly damaging	Het
Nalcn	T	A	14: 123,837,351 (GRCm39)	R4S	possibly damaging	Het
Nbeal2	C	T	9: 110,455,158 (GRCm39)	R2580Q	probably benign	Het
Nlrp4b	A	G	7: 10,448,319 (GRCm39)	N174S	probably damaging	Het
Or3a4	T	A	11: 73,945,305 (GRCm39)	R93S	probably benign	Het
Or4q3	A	T	14: 50,583,179 (GRCm39)	V240D	probably damaging	Het
Or52a5	A	T	7: 103,426,802 (GRCm39)	V250D	probably damaging	Het
Or5p63	A	G	7: 107,811,014 (GRCm39)	F241L	possibly damaging	Het
Pabpc2	G	A	18: 39,908,520 (GRCm39)	R595Q	probably benign	Het
Pak6	C	T	2: 118,520,578 (GRCm39)	Q190*	probably null	Het
Pds5a	A	T	5: 65,781,341 (GRCm39)	H1046Q	probably damaging	Het
Plin1	A	G	7: 79,373,028 (GRCm39)	S314P	probably benign	Het
Pramel20	T	G	4: 143,298,530 (GRCm39)	Y158D	probably benign	Het
Ptpra	G	A	2: 30,328,351 (GRCm39)	S224N	probably damaging	Het
Rbp1	T	G	9: 98,326,709 (GRCm39)	W107G	probably damaging	Het
Rgs7bp	T	C	13: 105,189,617 (GRCm39)	N61D	probably damaging	Het
Slc1a6	A	G	10: 78,627,067 (GRCm39)	T135A	probably damaging	Het
Smarcc1	T	A	9: 110,031,602 (GRCm39)	D783E	probably benign	Het
Sufu	G	T	19: 46,389,636 (GRCm39)	E86*	probably null	Het
Synm	A	T	7: 67,383,654 (GRCm39)	M1336K	probably benign	Het
Tmc8	T	G	11: 117,682,186 (GRCm39)		probably null	Het
Togaram1	T	C	12: 65,053,686 (GRCm39)	V1322A	probably damaging	Het
Uxs1	A	T	1: 43,810,911 (GRCm39)	I225K	possibly damaging	Het
Vil1	G	T	1: 74,474,052 (GRCm39)	E796*	probably null	Het
Vmn1r174	T	C	7: 23,453,568 (GRCm39)	F78S	probably damaging	Het
Vps13d	T	A	4: 144,879,321 (GRCm39)	I1501F		Het
Vps8	A	T	16: 21,393,780 (GRCm39)	T1216S	possibly damaging	Het
Yipf4	G	T	17: 74,800,967 (GRCm39)	R95L	probably damaging	Het
Zan	T	A	5: 137,465,346 (GRCm39)	T470S	probably damaging	Het
Zfp113	G	T	5: 138,143,258 (GRCm39)	H331N	probably damaging	Het
Zfp62	A	G	11: 49,106,902 (GRCm39)	Y331C	probably damaging	Het
Zfyve26	T	C	12: 79,327,610 (GRCm39)	H580R	probably benign	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
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
R9300:Tgm1	UTSW	14	55,942,303 (GRCm39)	missense	probably benign	0.05
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'- TCTCCGAAAAGGCTCATCAG -3'
(R):5'- TCTGGGTATCCAAGTACTATGGC -3'

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

Posted On

2020-07-13