Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03282:Tgm1'

415617

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tgm1

Ensembl Gene

ENSMUSG00000022218

Gene Name

transglutaminase 1, K polypeptide

Synonyms

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.926) question?

Stock #

IGL03282

Quality Score

Status

Chromosome

Chromosomal Location

55700009-55713926 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55711070 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 208 (V208A)

Ref Sequence

ENSEMBL: ENSMUSP00000137642 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000002389
AA Change: V208A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000002389
Gene: ENSMUSG00000022218
AA Change: V208A

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 damaging
Transcript: ENSMUST00000168729
AA Change: V208A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000128090
Gene: ENSMUSG00000022218
AA Change: V208A

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 damaging
Transcript: ENSMUST00000178034
AA Change: V208A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000137642
Gene: ENSMUSG00000022218
AA Change: V208A

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

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

Coding Region Coverage

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atl1	A	G	12: 69,954,464	I333M	possibly damaging	Het
Atxn2	A	G	5: 121,785,235	T52A	probably benign	Het
Atxn7	T	A	14: 14,100,564	L750H	probably damaging	Het
Cadps	T	C	14: 12,465,856		probably benign	Het
Cts6	T	A	13: 61,196,447	I264F	possibly damaging	Het
Dnah6	G	T	6: 73,053,647		probably benign	Het
Epg5	A	G	18: 77,986,426	S1335G	probably benign	Het
Gm10073	A	T	8: 106,573,340	V4D	probably benign	Het
Gpld1	T	A	13: 24,971,408	M342K	probably benign	Het
Herc1	T	A	9: 66,451,459	F2607L	probably benign	Het
Ighv2-9-1	T	C	12: 113,769,865	Y112C	probably damaging	Het
Itga4	A	T	2: 79,325,594	H968L	probably damaging	Het
Me1	C	T	9: 86,613,596	R286Q	probably damaging	Het
Med1	G	A	11: 98,156,817	T1051M	probably damaging	Het
Msh2	T	G	17: 87,689,002	D379E	probably benign	Het
Mup4	T	A	4: 59,958,547	M118L	possibly damaging	Het
Ostm1	A	T	10: 42,698,231	S152C	probably damaging	Het
Pla2g1b	A	G	5: 115,470,880	N45D	probably damaging	Het
Rab21	A	G	10: 115,298,898		probably benign	Het
Rapgef4	G	A	2: 72,205,752		probably benign	Het
Slc38a8	G	T	8: 119,499,716	N111K	probably damaging	Het
Snrnp35	A	G	5: 124,490,309	T62A	probably damaging	Het
Strn3	T	C	12: 51,627,209	I540V	probably benign	Het
Vmn1r62	A	T	7: 5,675,548	D76V	possibly damaging	Het
Vmn1r90	T	A	7: 14,561,501	H224L	probably benign	Het
Vmn1r90	A	T	7: 14,562,168	S2T	possibly damaging	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
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
R3917:Tgm1	UTSW	14	55712757	splice site	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
R8859:Tgm1	UTSW	14	55712229	missense	probably benign	0.01
R9170:Tgm1	UTSW	14	55708898	missense	probably damaging	1.00
R9300:Tgm1	UTSW	14	55704846	missense	probably benign	0.05
R9365:Tgm1	UTSW	14	55704892	missense	probably damaging	0.96
R9407:Tgm1	UTSW	14	55705534	nonsense	probably null
R9499:Tgm1	UTSW	14	55713476	start gained	probably benign
R9520:Tgm1	UTSW	14	55704839	missense	probably damaging	1.00
R9552:Tgm1	UTSW	14	55713476	start gained	probably benign
R9664:Tgm1	UTSW	14	55710984	missense	probably benign	0.00

Posted On

2016-08-02