Mutagenetix > Incidental Mutations

Incidental Mutation 'R3917:Tgm1'

359674

Institutional Source

Beutler Lab

Gene Symbol

Tgm1

Ensembl Gene

ENSMUSG00000022218

Gene Name

transglutaminase 1, K polypeptide

Synonyms

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

MMRRC Submission

040914-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.925) question?

Stock #

R3917 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

55700009-55713926 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 55712757 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000154744 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000002389

SMART Domains

Protein: ENSMUSP00000002389
Gene: ENSMUSG00000022218

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

SMART Domains

Protein: ENSMUSP00000128090
Gene: ENSMUSG00000022218

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

probably benign
Transcript: ENSMUST00000178034

SMART Domains

Protein: ENSMUSP00000137642
Gene: ENSMUSG00000022218

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: ENSMUST00000226209

Predicted Effect

probably benign
Transcript: ENSMUST00000226907

Predicted Effect

probably benign
Transcript: ENSMUST00000227061

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227106

Predicted Effect

probably benign
Transcript: ENSMUST00000227958

Predicted Effect

probably benign
Transcript: ENSMUST00000228123

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228604

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228826

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228899

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.0%

Validation Efficiency

97% (74/76)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad12	A	G	5: 121,599,214	V498A	probably damaging	Het
Adam19	A	G	11: 46,060,935	E37G	probably benign	Het
Apol11b	A	G	15: 77,635,304	I192T	probably benign	Het
Appl1	A	T	14: 26,928,604	F537Y	probably damaging	Het
Atad5	A	C	11: 80,103,294	K785N	probably null	Het
Atp1b2	A	G	11: 69,603,075	V93A	probably damaging	Het
Bcam	T	C	7: 19,765,450	Y216C	probably damaging	Het
Brca2	A	G	5: 150,540,827	E1352G	probably damaging	Het
C030005K15Rik	A	C	10: 97,725,591	S93A	unknown	Het
Cadps	C	T	14: 12,457,702	A1060T	probably benign	Het
Ccdc88c	A	G	12: 100,941,107		probably null	Het
Ccdc89	A	G	7: 90,426,825	D81G	probably damaging	Het
Ccnt1	A	G	15: 98,544,059	S443P	probably benign	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Cdc42bpa	T	C	1: 180,106,154		probably null	Het
Cdk11b	T	C	4: 155,626,801	S47P	probably damaging	Het
Cfap43	T	C	19: 47,897,750	D142G	probably benign	Het
Cntnap4	C	G	8: 112,875,533	P1190A	probably benign	Het
Colgalt2	T	A	1: 152,508,611	Y567*	probably null	Het
Dner	CGCTGCTGCTGCTGCTGCTGCTGCTGC	CGCTGCTGCTGCTGCTGCTGCTGC	1: 84,585,549		probably benign	Het
Dock7	T	C	4: 99,016,685	Y651C	probably damaging	Het
Fzd3	A	T	14: 65,235,930	F130I	probably damaging	Het
Gabarapl2	T	A	8: 111,952,396	F115L	probably benign	Het
Gm1043	G	A	5: 37,192,941		probably benign	Het
Gm12185	A	G	11: 48,915,933	F144L	probably benign	Het
Gm14124	T	A	2: 150,266,119		probably benign	Het
Gm21961	A	T	15: 65,014,884	D7E	unknown	Het
Gtf3a	A	G	5: 146,955,434	K332E	probably benign	Het
Haao	A	G	17: 83,838,799		probably null	Het
Habp2	T	A	19: 56,311,179	C170S	probably damaging	Het
Heatr3	T	G	8: 88,150,371		probably null	Het
Herc1	T	G	9: 66,434,466	C1846G	possibly damaging	Het
Hivep3	T	C	4: 120,099,427	S1647P	probably benign	Het
Hnrnpul1	C	T	7: 25,726,875	R517Q	probably damaging	Het
Hspg2	A	G	4: 137,559,314	E3648G	probably damaging	Het
Jaml	T	C	9: 45,101,151		probably benign	Het
Jund	C	T	8: 70,699,023		probably benign	Het
Klra14-ps	T	C	6: 130,157,632		noncoding transcript	Het
Krt88	G	A	15: 101,452,928		probably null	Het
Lrp5	G	A	19: 3,612,330	R173C	probably damaging	Het
Lyzl4	T	A	9: 121,583,035	D105V	probably damaging	Het
Mst1	A	G	9: 108,084,295	I575V	probably benign	Het
Myd88	T	C	9: 119,341,398		probably benign	Het
Myo1d	A	T	11: 80,666,578	V512E	probably damaging	Het
Ndufv1	A	G	19: 4,010,002	Y33H	probably damaging	Het
Nwd1	T	A	8: 72,667,811	C608*	probably null	Het
Olfr118	T	A	17: 37,672,793	F257I	probably damaging	Het
Olfr884	A	T	9: 38,047,545	I108F	probably damaging	Het
Patj	A	T	4: 98,592,008	K1317*	probably null	Het
Pld5	A	G	1: 175,963,938	S501P	probably benign	Het
Pnpo	A	G	11: 96,939,757	V146A	probably damaging	Het
Ppdpf	A	G	2: 181,187,728	Y16C	probably benign	Het
Ppp1r27	A	G	11: 120,550,959	V32A	possibly damaging	Het
Rbm28	T	C	6: 29,154,789	D294G	probably benign	Het
Sdk1	T	A	5: 142,051,244	D817E	probably damaging	Het
Shank3	A	G	15: 89,503,384	D252G	possibly damaging	Het
Slc29a1	A	T	17: 45,588,973		probably null	Het
Slc35a5	G	C	16: 45,158,158		probably benign	Het
Slc6a5	T	C	7: 49,911,869	S50P	probably damaging	Het
Slfn8	A	T	11: 83,016,993	Y241*	probably null	Het
Slu7	G	T	11: 43,440,684		probably null	Het
Smad2	T	A	18: 76,287,937	D82E	probably benign	Het
Spx	A	C	6: 142,414,031	E33A	probably damaging	Het
Tdp1	A	G	12: 99,894,717	Y205C	probably damaging	Het
Tekt1	A	G	11: 72,345,748	I296T	possibly damaging	Het
Tnks	A	G	8: 34,853,361	S719P	probably damaging	Het
Trip6	A	G	5: 137,313,679	C47R	probably benign	Het
Trpv3	A	G	11: 73,283,734	D309G	possibly damaging	Het
Tti2	A	G	8: 31,153,519	K221E	possibly damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Vmn1r57	A	T	7: 5,220,631	N52Y	probably damaging	Het
Vmn2r94	A	G	17: 18,244,358	F557L	probably benign	Het
Zbed5	T	C	5: 129,902,277	Y356H	possibly damaging	Het
Zic4	C	A	9: 91,384,341		probably benign	Het

Other mutations in Tgm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02206:Tgm1	APN	14	55704935	missense	possibly damaging	0.92
IGL02934:Tgm1	APN	14	55709989	missense	probably damaging	1.00
IGL03243:Tgm1	APN	14	55705907	missense	probably damaging	0.98
IGL03282:Tgm1	APN	14	55711070	missense	probably damaging	1.00
PIT4458001:Tgm1	UTSW	14	55712565	missense	unknown
R0277:Tgm1	UTSW	14	55710927	unclassified	probably benign
R0277:Tgm1	UTSW	14	55712652	unclassified	probably benign
R0478:Tgm1	UTSW	14	55700334	nonsense	probably null
R1349:Tgm1	UTSW	14	55711201	unclassified	probably benign
R1594:Tgm1	UTSW	14	55709519	missense	probably damaging	0.96
R1776:Tgm1	UTSW	14	55709397	missense	probably damaging	0.99
R1852:Tgm1	UTSW	14	55704941	missense	probably damaging	1.00
R1988:Tgm1	UTSW	14	55705577	missense	probably benign	0.00
R2064:Tgm1	UTSW	14	55709471	missense	probably damaging	1.00
R2139:Tgm1	UTSW	14	55709543	missense	probably damaging	1.00
R2427:Tgm1	UTSW	14	55712100	critical splice donor site	probably null
R3710:Tgm1	UTSW	14	55712595	unclassified	probably benign
R4697:Tgm1	UTSW	14	55705681	missense	probably benign	0.05
R4804:Tgm1	UTSW	14	55705619	missense	probably benign	0.38
R5074:Tgm1	UTSW	14	55709935	missense	probably damaging	1.00
R5341:Tgm1	UTSW	14	55700248	missense	possibly damaging	0.90
R5346:Tgm1	UTSW	14	55711172	missense	probably damaging	0.99
R5557:Tgm1	UTSW	14	55705643	missense	probably benign	0.10
R5566:Tgm1	UTSW	14	55712436	missense	probably damaging	0.99
R5828:Tgm1	UTSW	14	55705554	missense	probably benign	0.38
R6802:Tgm1	UTSW	14	55712482	unclassified	probably benign
R7017:Tgm1	UTSW	14	55704941	missense	possibly damaging	0.76
R7094:Tgm1	UTSW	14	55704843	missense	possibly damaging	0.53
R7549:Tgm1	UTSW	14	55705903	missense	probably benign	0.02
R7731:Tgm1	UTSW	14	55710521	missense	probably benign	0.21
R7799:Tgm1	UTSW	14	55712475	missense	unknown
R7915:Tgm1	UTSW	14	55700426	missense	probably damaging	0.98
R7956:Tgm1	UTSW	14	55708895	missense	probably benign	0.01
R8098:Tgm1	UTSW	14	55710534	missense	probably damaging	1.00
R8190:Tgm1	UTSW	14	55704884	missense	probably damaging	1.00
R8423:Tgm1	UTSW	14	55705643	missense	probably benign	0.35
R8493:Tgm1	UTSW	14	55700297	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTCTGTTCCCACATGAGCAG -3'
(R):5'- GGTTTCTCCACTGGACATCTG -3'

Sequencing Primer
(F):5'- TCCCACATGAGCAGCAGCC -3'
(R):5'- CTGCAATATAAGGTGCTTCTTCTG -3'

Posted On

2015-11-13