Mutagenetix > Incidental Mutation

Incidental Mutation 'R8098:Tgm1'

630352

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.926) question?

Stock #

R8098 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

55700009-55713926 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 55710534 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 269 (N269K)

Ref Sequence

ENSEMBL: ENSMUSP00000002389 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000002389
AA Change: N269K

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

SMART Domains

Protein: ENSMUSP00000002389
Gene: ENSMUSG00000022218
AA Change: N269K

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: N269K

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

SMART Domains

Protein: ENSMUSP00000128090
Gene: ENSMUSG00000022218
AA Change: N269K

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: N269K

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

SMART Domains

Protein: ENSMUSP00000137642
Gene: ENSMUSG00000022218
AA Change: N269K

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

probably benign
Transcript: ENSMUST00000227958

Predicted Effect

probably benign
Transcript: ENSMUST00000228123

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.3%
20x: 98.4%

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011I03Rik	A	T	18: 57,667,331	I185L	probably benign	Het
3425401B19Rik	A	G	14: 32,662,661	L449P	probably damaging	Het
4931440F15Rik	A	G	11: 29,824,450	S336P	possibly damaging	Het
Abca15	A	G	7: 120,361,396	S694G	probably benign	Het
Abcc6	A	G	7: 45,996,665	L800P	probably damaging	Het
Adam15	T	A	3: 89,343,886	D504V	probably damaging	Het
Adnp	T	C	2: 168,182,532	T948A	probably benign	Het
Akap11	T	C	14: 78,512,922	D675G		Het
Atp13a3	A	C	16: 30,354,297	V254G	possibly damaging	Het
Atp1a1	A	G	3: 101,582,049	I749T	probably damaging	Het
B3glct	T	A	5: 149,750,500	Y369*	probably null	Het
Bms1	C	T	6: 118,384,258	R1204H	probably damaging	Het
Btla	T	A	16: 45,244,249	L188*	probably null	Het
Btn2a2	A	G	13: 23,481,888	V258A	probably benign	Het
C1ra	G	A	6: 124,517,725	E316K	probably benign	Het
Cacna1g	T	C	11: 94,416,512	H1782R	probably benign	Het
Calcoco1	T	C	15: 102,716,324	D172G	probably benign	Het
Ciart	G	A	3: 95,881,344	P61L	probably damaging	Het
Ckap4	A	G	10: 84,533,635	S78P	probably damaging	Het
Col6a3	A	T	1: 90,803,661	D1623E	probably benign	Het
Col7a1	A	G	9: 108,956,695	T411A	unknown	Het
Cpt1a	A	C	19: 3,370,849	I436L	probably benign	Het
Cyp2c23	T	A	19: 44,015,803	I173F	probably benign	Het
Dcun1d2	T	C	8: 13,261,396	T198A	probably benign	Het
Ddx50	A	C	10: 62,625,143		probably null	Het
Depdc1b	A	G	13: 108,324,059	T68A	probably damaging	Het
Dgkq	G	A	5: 108,652,468	R546W	probably damaging	Het
Dmbt1	G	A	7: 131,108,459	W1493*	probably null	Het
Dnah17	A	G	11: 118,050,367	S3219P	probably damaging	Het
E430018J23Rik	C	T	7: 127,393,324	C38Y	probably null	Het
Egf	T	A	3: 129,690,837	Y986F	probably benign	Het
Ell3	TCTCCTC	TCTC	2: 121,439,456		probably benign	Het
Ep400	A	T	5: 110,693,251	M1805K	unknown	Het
Exoc3	A	G	13: 74,172,152	M730T	probably benign	Het
Fbxl13	T	A	5: 21,620,718	M129L	probably benign	Het
Gins4	T	A	8: 23,237,021	M19L	probably benign	Het
Gm3238	T	C	10: 77,770,640	N229S	unknown	Het
Gpd2	T	A	2: 57,290,008	V89D	possibly damaging	Het
Hectd4	G	A	5: 121,321,398	V777I	possibly damaging	Het
Hgf	T	A	5: 16,561,061	V65E	probably benign	Het
Hnrnpdl	A	G	5: 100,037,920	S169P	probably benign	Het
Igfbp3	T	C	11: 7,210,104	D183G	possibly damaging	Het
Il16	A	G	7: 83,646,559	V1134A	probably damaging	Het
Kcnn4	A	G	7: 24,384,079	D395G	probably damaging	Het
Kctd17	CAGCTGGAGGAGC	CAGC	15: 78,436,913		probably benign	Het
Kif13a	T	C	13: 46,815,304	N354S	probably damaging	Het
Lrp1	C	T	10: 127,574,455	R1474Q	possibly damaging	Het
Map3k9	T	C	12: 81,734,114	Q424R	probably damaging	Het
Mkx	A	C	18: 6,992,784	S167A	possibly damaging	Het
Ms4a14	A	G	19: 11,304,615	F193S	possibly damaging	Het
Myo18a	A	T	11: 77,845,401	D1508V	probably damaging	Het
Nek4	T	A	14: 30,963,951	N273K	probably benign	Het
Nipal3	A	T	4: 135,452,398	V403D	possibly damaging	Het
Nlrp6	G	A	7: 140,923,255	V425M	probably damaging	Het
Olfr1228	T	A	2: 89,249,308	M117L	possibly damaging	Het
Olfr127	A	G	17: 37,904,359	D271G	probably damaging	Het
Olfr1342	A	T	4: 118,690,209	V81E	possibly damaging	Het
Olfr825	T	C	10: 130,163,047	K93R	probably benign	Het
Otub1	A	T	19: 7,204,429	D27E	probably damaging	Het
Pcnx2	T	C	8: 125,768,301	D1607G	probably damaging	Het
Pde2a	A	G	7: 101,421,971	Y16C	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Prph2	A	T	17: 46,919,966	M262L	probably benign	Het
Pxdn	C	T	12: 30,006,602	L1271F	probably damaging	Het
Rnf10	A	C	5: 115,251,379	I243S	probably damaging	Het
Samd9l	T	C	6: 3,375,549	I571V	probably damaging	Het
Scube1	C	T	15: 83,659,088	G183D	probably damaging	Het
Sidt2	A	G	9: 45,945,730	V426A	probably benign	Het
Slc20a1	T	C	2: 129,209,121	L566P	probably damaging	Het
Slc22a3	A	G	17: 12,423,732		probably null	Het
Snx11	G	T	11: 96,770,674	S168R	probably benign	Het
Snx5	T	C	2: 144,255,562	N218D	probably benign	Het
Snx7	A	T	3: 117,838,934	D169E	probably benign	Het
Soat1	A	G	1: 156,446,610	L77P	probably damaging	Het
Sucnr1	T	A	3: 60,086,741	V230E	probably damaging	Het
Supv3l1	T	C	10: 62,429,503	K753E	probably benign	Het
Tango6	T	G	8: 106,742,358	L829V	possibly damaging	Het
Tek	T	C	4: 94,827,670	V443A	probably benign	Het
Tet1	A	T	10: 62,879,080	L312Q	probably damaging	Het
Thrb	A	T	14: 18,008,645	D168V	probably damaging	Het
Tk2	C	T	8: 104,231,172	V181I	probably benign	Het
Tm6sf2	T	C	8: 70,074,322	L47P	probably damaging	Het
Tmcc3	T	A	10: 94,579,216	M291K	probably benign	Het
Tnfrsf21	A	G	17: 43,039,899	E318G	probably benign	Het
Ttc7	T	C	17: 87,334,328	V451A	probably benign	Het
Ugt2b36	A	T	5: 87,092,393	D44E	probably benign	Het
Usp17la	G	T	7: 104,860,931	V248L	probably damaging	Het
Utp20	A	C	10: 88,752,948	I2453S	probably benign	Het
Wdr91	A	T	6: 34,886,882	I566N	possibly damaging	Het
Zfp282	A	G	6: 47,890,718	D276G	probably benign	Het
Zfp866	T	C	8: 69,765,978	K331E	probably benign	Het
Zkscan17	A	T	11: 59,503,584	W64R	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- TCCCTTTAATGAGTGTGCAAGAC -3'
(R):5'- CTTAGAGCAGTCCGATTAGGC -3'

Sequencing Primer
(F):5'- GATCTCTGTAAGTTCAAGGCCAGTC -3'
(R):5'- CAGTCCGATTAGGCTAGAAGC -3'

Posted On

2020-06-30