Mutagenetix > Incidental Mutation

Incidental Mutation 'R8859:Tgm1'

675568

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

068739-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.930) question?

Stock #

R8859 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55937466-55951378 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 55949686 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 126 (R126L)

Ref Sequence

ENSEMBL: ENSMUSP00000002389 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002389] [ENSMUST00000062861] [ENSMUST00000163889] [ENSMUST00000168729] [ENSMUST00000169237] [ENSMUST00000178034] [ENSMUST00000226907] [ENSMUST00000227061] [ENSMUST00000227958] [ENSMUST00000228123]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000002389
AA Change: R126L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000002389
Gene: ENSMUSG00000022218
AA Change: R126L

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: ENSMUST00000062861

SMART Domains

Protein: ENSMUSP00000061498
Gene: ENSMUSG00000040472

Domain	Start	End	E-Value	Type
Pfam:PPTA	47	77	2.9e-8	PFAM
Pfam:PPTA	91	121	2e-12	PFAM
Pfam:PPTA	127	156	7.6e-11	PFAM
Pfam:PPTA	162	192	3.8e-12	PFAM
Pfam:PPTA	210	240	7.8e-12	PFAM
Pfam:RabGGT_insert	243	346	5.3e-47	PFAM
LRR	462	485	1.62e0	SMART
LRR	507	531	1.03e2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000163889

SMART Domains

Protein: ENSMUSP00000128668
Gene: ENSMUSG00000040472

Domain	Start	End	E-Value	Type
Pfam:PPTA	47	77	2.9e-8	PFAM
Pfam:PPTA	91	121	2e-12	PFAM
Pfam:PPTA	127	156	7.6e-11	PFAM
Pfam:PPTA	162	192	3.8e-12	PFAM
Pfam:PPTA	210	240	7.8e-12	PFAM
Pfam:RabGGT_insert	243	346	5.3e-47	PFAM
LRR	462	485	1.62e0	SMART
LRR	507	531	1.03e2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000168729
AA Change: R126L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000128090
Gene: ENSMUSG00000022218
AA Change: R126L

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: ENSMUST00000169237

SMART Domains

Protein: ENSMUSP00000133032
Gene: ENSMUSG00000040472

Domain	Start	End	E-Value	Type
Pfam:PPTA	92	119	3.6e-12	PFAM
Pfam:PPTA	128	154	1.2e-10	PFAM
Pfam:PPTA	163	190	2e-11	PFAM
Pfam:PPTA	211	238	9e-12	PFAM
Pfam:RabGGT_insert	244	346	1.9e-46	PFAM
LRR	462	485	1.62e0	SMART
LRR	507	531	1.03e2	SMART

Predicted Effect

SMART Domains

Protein: ENSMUSP00000137642
Gene: ENSMUSG00000022218
AA Change: R126L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000226907
AA Change: R126L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Predicted Effect

probably benign
Transcript: ENSMUST00000227061

Predicted Effect

probably benign
Transcript: ENSMUST00000227958
AA Change: R126L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Predicted Effect

probably benign
Transcript: ENSMUST00000228123

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

99% (95/96)

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,328,397 (GRCm39)	Y3490F		Het
Abcc1	T	C	16: 14,214,225 (GRCm39)	V167A	probably benign	Het
Abcd2	G	A	15: 91,073,149 (GRCm39)	R337C	probably damaging	Het
Adcy1	A	G	11: 7,111,877 (GRCm39)	D914G	probably benign	Het
Ahnak	G	T	19: 8,984,567 (GRCm39)	L1950F	probably damaging	Het
Alox5ap	T	C	5: 149,201,994 (GRCm39)		probably null	Het
Ank	C	T	15: 27,562,834 (GRCm39)	H181Y	possibly damaging	Het
Ankrd44	T	A	1: 54,706,680 (GRCm39)	D592V	possibly damaging	Het
Ap4m1	T	A	5: 138,174,185 (GRCm39)	N185K	possibly damaging	Het
Arhgef28	T	A	13: 98,082,210 (GRCm39)	D1199V	probably damaging	Het
Arnt	T	C	3: 95,397,691 (GRCm39)		probably null	Het
Atcay	C	T	10: 81,060,298 (GRCm39)	V13M	probably benign	Het
B4galt3	T	C	1: 171,099,241 (GRCm39)	S2P	unknown	Het
Bicra	A	T	7: 15,721,737 (GRCm39)	S593R	possibly damaging	Het
Brsk2	A	C	7: 141,552,415 (GRCm39)	Q633P	probably damaging	Het
Cacna1c	T	A	6: 118,653,280 (GRCm39)	S909C		Het
Ccdc7a	G	A	8: 129,788,113 (GRCm39)	T72M	probably benign	Het
Ccn1	T	C	3: 145,354,380 (GRCm39)	D177G	probably benign	Het
Cct2	A	T	10: 116,896,739 (GRCm39)	F155I	possibly damaging	Het
Cdv3	G	T	9: 103,233,594 (GRCm39)	P194T	probably damaging	Het
Cenpc1	A	T	5: 86,160,153 (GRCm39)	V895E	probably benign	Het
Cep170b	T	C	12: 112,702,881 (GRCm39)	V448A	probably benign	Het
Chil3	G	A	3: 106,071,440 (GRCm39)	R75C	possibly damaging	Het
Cnfn	A	T	7: 25,067,869 (GRCm39)	C24S	probably benign	Het
Cnga3	A	G	1: 37,299,852 (GRCm39)	K191E	possibly damaging	Het
Col12a1	A	T	9: 79,587,681 (GRCm39)	Y1153*	probably null	Het
Coq4	C	A	2: 29,685,491 (GRCm39)	H168Q	probably damaging	Het
Dennd2b	T	A	7: 109,123,863 (GRCm39)	K1132M	probably damaging	Het
Dnajc14	G	A	10: 128,642,488 (GRCm39)	V137I	probably benign	Het
Efr3a	T	C	15: 65,726,614 (GRCm39)	L569P	probably damaging	Het
Epb41l3	A	T	17: 69,591,575 (GRCm39)	E677D	probably benign	Het
Esp8	G	A	17: 40,841,013 (GRCm39)	M91I	unknown	Het
Fubp1	A	T	3: 151,937,669 (GRCm39)		probably benign	Het
Gldc	G	T	19: 30,116,779 (GRCm39)	A391D	probably damaging	Het
Gm17728	A	G	17: 9,641,027 (GRCm39)	T46A	probably benign	Het
Gm5798	A	G	14: 41,072,603 (GRCm39)	K112E	probably damaging	Het
Gpnmb	A	G	6: 49,028,964 (GRCm39)		probably benign	Het
Grwd1	T	C	7: 45,475,298 (GRCm39)	T415A	probably benign	Het
Gsdma3	C	G	11: 98,522,086 (GRCm39)	A172G	possibly damaging	Het
Hltf	C	T	3: 20,119,566 (GRCm39)	Q204*	probably null	Het
Igf1r	T	G	7: 67,833,211 (GRCm39)	V457G	possibly damaging	Het
Inhbc	A	T	10: 127,192,984 (GRCm39)	M344K	probably damaging	Het
Jak3	C	T	8: 72,131,160 (GRCm39)	A60V	probably benign	Het
Kif13b	A	G	14: 64,979,882 (GRCm39)	T511A	probably benign	Het
Lama2	T	A	10: 27,335,384 (GRCm39)	N97I	possibly damaging	Het
Limd2	T	A	11: 106,049,576 (GRCm39)	D104V	probably damaging	Het
Loxl3	T	A	6: 83,014,526 (GRCm39)	C145S	probably damaging	Het
Lrrc37	A	C	11: 103,506,370 (GRCm39)	I1866S	unknown	Het
Lrrc73	A	G	17: 46,565,455 (GRCm39)	N62S	probably benign	Het
Lrrtm4	A	G	6: 79,998,870 (GRCm39)	D94G	probably damaging	Het
Lsm3	C	A	6: 91,499,252 (GRCm39)	F86L	probably damaging	Het
Map10	T	C	8: 126,397,291 (GRCm39)	V228A	probably benign	Het
Mcidas	A	C	13: 113,130,664 (GRCm39)	S54R	possibly damaging	Het
Me3	T	C	7: 89,455,876 (GRCm39)	Y243H	probably damaging	Het
Mgat4b	A	G	11: 50,121,674 (GRCm39)	T89A	possibly damaging	Het
Mmp16	T	A	4: 18,054,355 (GRCm39)		probably benign	Het
Mtmr9	G	A	14: 63,781,226 (GRCm39)		probably benign	Het
Myo1b	G	T	1: 51,836,198 (GRCm39)	A331E	probably damaging	Het
Ncoa6	C	T	2: 155,248,388 (GRCm39)	V1639M	possibly damaging	Het
Nek9	C	T	12: 85,353,120 (GRCm39)	G752R	probably damaging	Het
Nufip2	A	G	11: 77,584,069 (GRCm39)	Y661C	probably benign	Het
Or10w1	T	A	19: 13,632,246 (GRCm39)	V151E	probably damaging	Het
Or1n2	C	T	2: 36,797,516 (GRCm39)	A186V	possibly damaging	Het
Or51t4	A	T	7: 102,598,373 (GRCm39)	I234F	probably damaging	Het
Or7g16	T	C	9: 18,726,992 (GRCm39)	I199M	possibly damaging	Het
Or8g55	G	A	9: 39,784,894 (GRCm39)	G108S	probably benign	Het
Oxct2a	A	G	4: 123,216,322 (GRCm39)	L353S	probably benign	Het
Parvg	A	G	15: 84,222,001 (GRCm39)	I243V	probably benign	Het
Pcdhgb7	C	A	18: 37,886,349 (GRCm39)	N506K	possibly damaging	Het
Peg10	T	TCCA	6: 4,756,451 (GRCm39)		probably benign	Het
Pgghg	G	A	7: 140,525,367 (GRCm39)		probably null	Het
Phrf1	G	T	7: 140,836,516 (GRCm39)	G263W	unknown	Het
Ppfia1	A	C	7: 144,032,762 (GRCm39)		probably null	Het
Prss37	T	A	6: 40,491,897 (GRCm39)	I228F	probably damaging	Het
Ptpro	A	T	6: 137,403,782 (GRCm39)	K921*	probably null	Het
Rictor	T	G	15: 6,813,067 (GRCm39)	L940R	probably damaging	Het
Rp1	A	G	1: 4,420,183 (GRCm39)	S310P	probably benign	Het
Ryr3	A	G	2: 112,483,564 (GRCm39)	V4091A	probably damaging	Het
Saxo4	T	A	19: 10,459,599 (GRCm39)	Y36F	probably damaging	Het
Sirt5	T	A	13: 43,524,327 (GRCm39)	M33K	possibly damaging	Het
Slc25a30	T	A	14: 76,008,917 (GRCm39)	Y90F	probably benign	Het
Stimate	T	A	14: 30,588,629 (GRCm39)	Y119N	probably damaging	Het
Stk11	G	A	10: 79,964,269 (GRCm39)	D388N	probably benign	Het
Tmem129	G	T	5: 33,811,837 (GRCm39)	T321N	probably benign	Het
Tnfrsf11a	A	T	1: 105,772,244 (GRCm39)		probably null	Het
Tor1aip1	A	G	1: 155,907,190 (GRCm39)	C195R	probably benign	Het
Tpr	A	G	1: 150,284,597 (GRCm39)	E428G	possibly damaging	Het
Trps1	T	A	15: 50,685,769 (GRCm39)	D802V	possibly damaging	Het
Usp17lc	T	A	7: 103,064,316 (GRCm39)	S6T	probably benign	Het
Vangl1	C	A	3: 102,065,758 (GRCm39)	R459L		Het
Vmn1r43	T	C	6: 89,846,937 (GRCm39)	Y183C	probably damaging	Het
Vmn2r110	C	T	17: 20,794,560 (GRCm39)	C703Y	probably damaging	Het
Vmn2r54	T	C	7: 12,363,702 (GRCm39)	Q397R	possibly damaging	Het
Vmn2r88	T	C	14: 51,656,263 (GRCm39)	V824A	probably damaging	Het
Vmn2r89	A	T	14: 51,693,170 (GRCm39)	Y79F	probably benign	Het
Vnn1	T	C	10: 23,780,484 (GRCm39)	S491P	probably benign	Het
Zbbx	A	G	3: 74,968,741 (GRCm39)	F572L	unknown	Het
Zc3h4	A	T	7: 16,168,939 (GRCm39)	Q1091L	unknown	Het
Zfp503	C	T	14: 22,037,286 (GRCm39)	V106I	possibly damaging	Het
Zfp874a	T	C	13: 67,590,647 (GRCm39)	T346A	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
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
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'- TTCAAGTCTAGGGGCTTTACC -3'
(R):5'- AATGCAGCTGGAGATGGCAC -3'

Sequencing Primer
(F):5'- GCTTTACCCTTCCCATTCCAGG -3'
(R):5'- CCTAGAGCTGAGCCTTTATGGAAC -3'

Posted On

2021-07-15