Mutagenetix > Incidental Mutation

Incidental Mutation 'R1988:Tgm1'

222902

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

040000-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.930) question?

Stock #

R1988 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55937466-55951378 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 55943034 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 602 (R602H)

Ref Sequence

ENSEMBL: ENSMUSP00000137642 (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: R602H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000002389
Gene: ENSMUSG00000022218
AA Change: R602H

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: R602H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000128090
Gene: ENSMUSG00000022218
AA Change: R602H

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: R602H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000137642
Gene: ENSMUSG00000022218
AA Change: R602H

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

noncoding transcript
Transcript: ENSMUST00000227106

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.1%

Validation Efficiency

96% (79/82)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	A	6: 146,854,394 (GRCm39)	D216V	possibly damaging	Het
2610021A01Rik	C	T	7: 41,276,081 (GRCm39)	R595*	probably null	Het
Adgrl3	A	G	5: 81,836,414 (GRCm39)	D724G	probably damaging	Het
Akap6	T	C	12: 53,187,578 (GRCm39)	F1664S	possibly damaging	Het
Akt1	T	C	12: 112,621,585 (GRCm39)	I404V	probably benign	Het
Anxa13	T	A	15: 58,205,344 (GRCm39)		noncoding transcript	Het
Atoh1	T	C	6: 64,706,617 (GRCm39)	V104A	probably benign	Het
Brwd1	T	C	16: 95,822,437 (GRCm39)	D1256G	probably damaging	Het
C9	ATTTT	ATTT	15: 6,512,619 (GRCm39)		probably null	Het
Cd164	A	G	10: 41,399,177 (GRCm39)	T89A	probably benign	Het
Cep350	G	C	1: 155,808,850 (GRCm39)	N575K	possibly damaging	Het
Chrm5	A	G	2: 112,310,597 (GRCm39)	V173A	probably damaging	Het
Cnot1	A	G	8: 96,468,572 (GRCm39)	V1417A	possibly damaging	Het
Cntnap3	T	C	13: 64,906,204 (GRCm39)	T801A	probably damaging	Het
Cntnap5b	A	C	1: 99,999,865 (GRCm39)	K208Q	possibly damaging	Het
Crx	A	T	7: 15,603,272 (GRCm39)	V107D	possibly damaging	Het
Csrnp2	A	G	15: 100,387,321 (GRCm39)	F49S	probably damaging	Het
Ctbp1	A	G	5: 33,408,248 (GRCm39)	L228P	possibly damaging	Het
Ctdp1	A	T	18: 80,492,616 (GRCm39)	D626E	possibly damaging	Het
Cyp1a2	T	C	9: 57,589,569 (GRCm39)	T82A	possibly damaging	Het
Dnah3	T	A	7: 119,566,793 (GRCm39)	T2478S	possibly damaging	Het
Dnah3	T	G	7: 119,567,182 (GRCm39)	D2348A	probably damaging	Het
Dnah5	T	C	15: 28,343,737 (GRCm39)	I2379T	probably damaging	Het
Dnah6	A	G	6: 73,069,175 (GRCm39)	I2504T	probably damaging	Het
Dnase1l2	A	C	17: 24,660,625 (GRCm39)	W138G	probably damaging	Het
Dop1b	T	A	16: 93,563,061 (GRCm39)	I855N	probably damaging	Het
Dsc3	T	A	18: 20,098,903 (GRCm39)	N759Y	possibly damaging	Het
Dtx2	C	T	5: 136,061,147 (GRCm39)	R510*	probably null	Het
Fat4	G	T	3: 38,941,264 (GRCm39)	M52I	probably benign	Het
Fat4	G	A	3: 39,050,239 (GRCm39)	E4034K	probably damaging	Het
Fezf2	T	C	14: 12,344,350 (GRCm38)	K279R	probably damaging	Het
Fsip2	G	T	2: 82,806,861 (GRCm39)	W1060L	possibly damaging	Het
G6pc1	T	A	11: 101,258,768 (GRCm39)	I49N	probably damaging	Het
Gars1	A	G	6: 55,054,757 (GRCm39)	E688G	probably null	Het
Gdf11	T	C	10: 128,721,111 (GRCm39)	N361S	probably benign	Het
Gli3	A	C	13: 15,900,965 (GRCm39)	M1451L	probably benign	Het
Heatr3	T	C	8: 88,876,945 (GRCm39)	I329T	probably benign	Het
Herc3	T	G	6: 58,861,960 (GRCm39)		probably null	Het
Hrnr	A	G	3: 93,239,911 (GRCm39)	N3383S	unknown	Het
Igsf3	A	T	3: 101,338,612 (GRCm39)	I309F	probably benign	Het
Kif21b	C	T	1: 136,080,002 (GRCm39)	R513W	probably damaging	Het
Kif7	G	T	7: 79,348,989 (GRCm39)	H1195Q	probably benign	Het
Lpcat4	T	C	2: 112,072,887 (GRCm39)	V182A	possibly damaging	Het
Map3k21	T	A	8: 126,654,294 (GRCm39)	I371N	probably benign	Het
Mns1	G	A	9: 72,356,041 (GRCm39)		probably null	Het
Myo3a	A	G	2: 22,468,140 (GRCm39)	T465A	possibly damaging	Het
Nlrc4	A	T	17: 74,733,938 (GRCm39)	S992T	probably benign	Het
Notch4	G	A	17: 34,806,562 (GRCm39)	G1833E	possibly damaging	Het
Or52ad1	T	A	7: 102,995,316 (GRCm39)	Y273F	possibly damaging	Het
Or52n2	T	C	7: 104,542,110 (GRCm39)	T242A	probably damaging	Het
Or5g29	G	A	2: 85,420,985 (GRCm39)	V34I	probably benign	Het
Or5p5	A	T	7: 107,413,907 (GRCm39)	I39L	probably benign	Het
Or8a1b	A	T	9: 37,622,993 (GRCm39)	I194K	possibly damaging	Het
Pcdh9	G	A	14: 94,125,741 (GRCm39)	P143L	probably damaging	Het
Pik3cd	T	A	4: 149,747,660 (GRCm39)	T28S	probably damaging	Het
Pkd1	G	T	17: 24,795,566 (GRCm39)		probably null	Het
Plk4	A	T	3: 40,760,252 (GRCm39)	S383C	possibly damaging	Het
Plxna2	T	C	1: 194,326,297 (GRCm39)	L77P	probably damaging	Het
Ppm1f	T	C	16: 16,741,530 (GRCm39)	S335P	probably damaging	Het
Prr16	C	T	18: 51,436,349 (GRCm39)	P276L	probably damaging	Het
Rilp	A	G	11: 75,401,759 (GRCm39)		probably null	Het
Rspry1	A	G	8: 95,358,682 (GRCm39)		probably null	Het
Serpinb9b	T	C	13: 33,213,542 (GRCm39)	V33A	probably benign	Het
Slc4a10	C	A	2: 62,098,548 (GRCm39)	Q561K	probably damaging	Het
Smyd5	T	C	6: 85,415,118 (GRCm39)	I42T	possibly damaging	Het
Stk17b	T	C	1: 53,800,241 (GRCm39)	N246D	probably damaging	Het
Suco	T	C	1: 161,646,380 (GRCm39)		probably null	Het
Tecpr1	C	T	5: 144,141,515 (GRCm39)	V785M	possibly damaging	Het
Telo2	C	T	17: 25,320,642 (GRCm39)	V756I	probably benign	Het
Timeless	A	G	10: 128,080,056 (GRCm39)	T402A	probably damaging	Het
Tnfaip2	T	A	12: 111,416,325 (GRCm39)		probably null	Het
Trgc3	C	A	13: 19,445,164 (GRCm39)	F37L	probably damaging	Het
Trim5	A	G	7: 103,914,828 (GRCm39)	S414P	probably damaging	Het
Txnip	A	G	3: 96,467,066 (GRCm39)	T247A	possibly damaging	Het
Vmn1r174	A	T	7: 23,454,050 (GRCm39)	T239S	probably damaging	Het
Vmn1r231	T	A	17: 21,110,212 (GRCm39)	E234D	probably damaging	Het
Zranb3	A	T	1: 127,887,480 (GRCm39)	N982K	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
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
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'- ACCATCTAGGGACAGTGCTG -3'
(R):5'- AGAGCTCAAACGCACCTTTGAC -3'

Sequencing Primer
(F):5'- ACCATTTAGGGGCAGGGCTG -3'
(R):5'- TTTGACCTCAACCCCCAGG -3'

Posted On

2014-08-25