Incidental Mutation 'R3710:Tgm1'
ID 259562
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 040703-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.930) question?
Stock # R3710 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 55937466-55951378 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to A at 55950052 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000154725 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002389] [ENSMUST00000062861] [ENSMUST00000163889] [ENSMUST00000168729] [ENSMUST00000169237] [ENSMUST00000178034] [ENSMUST00000227958] [ENSMUST00000228123] [ENSMUST00000226907] [ENSMUST00000227061]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000002389
AA Change: G52V
SMART Domains Protein: ENSMUSP00000002389
Gene: ENSMUSG00000022218
AA Change: G52V

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 unknown
Transcript: ENSMUST00000168729
AA Change: G52V
SMART Domains Protein: ENSMUSP00000128090
Gene: ENSMUSG00000022218
AA Change: G52V

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 unknown
Transcript: ENSMUST00000178034
AA Change: G52V
SMART Domains Protein: ENSMUSP00000137642
Gene: ENSMUSG00000022218
AA Change: G52V

DomainStartEndE-ValueType
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 unknown
Transcript: ENSMUST00000227958
AA Change: G52V
Predicted Effect unknown
Transcript: ENSMUST00000228123
AA Change: G52V
Predicted Effect unknown
Transcript: ENSMUST00000226907
AA Change: G52V
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228826
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228899
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228604
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226209
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227106
Predicted Effect probably benign
Transcript: ENSMUST00000227061
Meta Mutation Damage Score 0.5090 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
Validation Efficiency 98% (55/56)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 T C 15: 64,597,384 (GRCm39) probably benign Het
Agbl2 G A 2: 90,636,152 (GRCm39) D563N probably benign Het
Aida C A 1: 183,085,610 (GRCm39) probably null Het
Ank1 A G 8: 23,577,095 (GRCm39) D200G probably damaging Het
Ankrd28 A G 14: 31,470,808 (GRCm39) probably benign Het
Ap3b2 C T 7: 81,123,598 (GRCm39) probably benign Het
Atrnl1 C A 19: 57,645,546 (GRCm39) H469N probably damaging Het
B4galt3 C A 1: 171,101,613 (GRCm39) H196N probably damaging Het
Bud23 A C 5: 135,085,204 (GRCm39) S41A possibly damaging Het
Car12 G T 9: 66,658,260 (GRCm39) A21S probably damaging Het
Cav3 T A 6: 112,436,774 (GRCm39) M1K probably null Het
Cdc42bpa A G 1: 179,892,628 (GRCm39) D264G probably damaging Het
Cic A G 7: 24,986,406 (GRCm39) D1276G probably damaging Het
Col2a1 A G 15: 97,888,788 (GRCm39) probably benign Het
Col9a2 C G 4: 120,911,455 (GRCm39) R599G probably damaging Het
Csn3 C A 5: 88,077,882 (GRCm39) N129K possibly damaging Het
Diaph1 C A 18: 37,978,537 (GRCm39) G1209W probably damaging Het
Dsg2 A G 18: 20,735,174 (GRCm39) T1051A probably damaging Het
Gm1965 A T 6: 89,122,407 (GRCm39) noncoding transcript Het
Gprc6a CAAA CA 10: 51,491,776 (GRCm39) probably null Het
Gsto1 T C 19: 47,847,971 (GRCm39) probably null Het
Il15ra G T 2: 11,735,458 (GRCm39) probably null Het
Ipo8 A T 6: 148,707,842 (GRCm39) probably null Het
Lsm14a T A 7: 34,053,204 (GRCm39) I283F probably damaging Het
Mael T C 1: 166,066,135 (GRCm39) D34G probably damaging Het
Marchf6 A T 15: 31,509,972 (GRCm39) probably benign Het
Mtmr10 C A 7: 63,976,433 (GRCm39) A410D possibly damaging Het
Myh9 T C 15: 77,657,547 (GRCm39) E1066G possibly damaging Het
Nim1k A G 13: 120,173,635 (GRCm39) S420P probably benign Het
Nlrp4c T A 7: 6,068,627 (GRCm39) V176E probably damaging Het
Ogfod1 A T 8: 94,784,380 (GRCm39) K313* probably null Het
Or5an1 T G 19: 12,260,450 (GRCm39) F13V probably damaging Het
Osbpl10 C A 9: 115,036,655 (GRCm39) P253Q probably benign Het
Otof A T 5: 30,542,610 (GRCm39) M661K probably benign Het
Rbms2 C T 10: 127,979,312 (GRCm39) R139Q probably damaging Het
Rimbp2 G A 5: 128,866,795 (GRCm39) T508I probably benign Het
Ros1 A T 10: 52,037,991 (GRCm39) C393* probably null Het
Rps17 T A 7: 80,994,672 (GRCm39) T30S probably benign Het
Rps3 T C 7: 99,128,626 (GRCm39) K197R probably benign Het
Samd11 G A 4: 156,334,952 (GRCm39) L109F probably damaging Het
Smarca2 T G 19: 26,646,290 (GRCm39) probably benign Het
Sprr2g C A 3: 92,282,036 (GRCm39) P30Q unknown Het
Spz1 G A 13: 92,711,631 (GRCm39) Q282* probably null Het
Syne3 A G 12: 104,909,697 (GRCm39) L713P possibly damaging Het
Tomm22 T C 15: 79,555,419 (GRCm39) F55L probably damaging Het
Tph2 T A 10: 115,009,963 (GRCm39) Y199F probably benign Het
Vmn2r108 A T 17: 20,682,932 (GRCm39) F757L probably benign Het
Vmn2r69 T A 7: 85,055,601 (GRCm39) T846S probably benign Het
Was G T X: 7,952,927 (GRCm39) S271R probably benign Het
Zc3hav1 A C 6: 38,309,097 (GRCm39) M575R probably benign Het
Other mutations in Tgm1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- AGGTTCCATAAAGGCTCAGCTC -3'
(R):5'- GAGTGAATGAGCACCCTCTG -3'

Sequencing Primer
(F):5'- CCATAAAGGCTCAGCTCTAGGTTAAG -3'
(R):5'- GTCTCTTCTACACAGGCACAATGG -3'
Posted On 2015-01-23