Incidental Mutation 'R5557:Tgm1'
ID 435476
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 043114-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.930) question?
Stock # R5557 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 55937466-55951378 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 55943100 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 580 (M580T)
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: M580T

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000002389
Gene: ENSMUSG00000022218
AA Change: M580T

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: ENSMUST00000168729
AA Change: M580T

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000128090
Gene: ENSMUSG00000022218
AA Change: M580T

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: ENSMUST00000178034
AA Change: M580T

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000137642
Gene: ENSMUSG00000022218
AA Change: M580T

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 noncoding transcript
Transcript: ENSMUST00000227106
Meta Mutation Damage Score 0.3669 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.7%
Validation Efficiency 100% (72/72)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810055G02Rik T A 19: 3,767,501 (GRCm39) F363I possibly damaging Het
Abcb1a T A 5: 8,764,949 (GRCm39) N646K probably benign Het
Abi2 C A 1: 60,478,071 (GRCm39) probably benign Het
Adamts13 T C 2: 26,863,651 (GRCm39) S35P probably benign Het
B4galt3 A G 1: 171,100,089 (GRCm39) probably null Het
Bag5 T C 12: 111,676,524 (GRCm39) N433S probably benign Het
Birc7 T A 2: 180,574,772 (GRCm39) V218D probably benign Het
Catsperg1 T G 7: 28,895,296 (GRCm39) N332T possibly damaging Het
Ccdc191 A C 16: 43,728,976 (GRCm39) T179P probably damaging Het
Col4a3 C T 1: 82,692,968 (GRCm39) probably benign Het
Crlf1 A G 8: 70,951,317 (GRCm39) I65M probably benign Het
Dennd4a T G 9: 64,811,509 (GRCm39) D1376E probably benign Het
Dennd4b G A 3: 90,175,675 (GRCm39) R148Q probably damaging Het
Dlg4 C T 11: 69,933,106 (GRCm39) P504L probably damaging Het
Dop1b A G 16: 93,560,819 (GRCm39) T886A probably damaging Het
Dst T A 1: 34,321,667 (GRCm39) V4394E probably damaging Het
Endov T C 11: 119,393,186 (GRCm39) M112T possibly damaging Het
Eps8 T C 6: 137,456,094 (GRCm39) M796V possibly damaging Het
Fam107b T A 2: 3,771,791 (GRCm39) Y7* probably null Het
Farsb C T 1: 78,445,888 (GRCm39) probably null Het
Fasn A G 11: 120,703,252 (GRCm39) M1591T probably benign Het
Fbn2 C T 18: 58,248,731 (GRCm39) A384T probably benign Het
Fnta T C 8: 26,489,564 (GRCm39) D349G probably damaging Het
Glis3 G T 19: 28,241,409 (GRCm39) H842N probably benign Het
Gm17067 G A 7: 42,357,945 (GRCm39) P186S probably damaging Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Hk3 A T 13: 55,159,888 (GRCm39) L362* probably null Het
Ing3 A G 6: 21,968,908 (GRCm39) H130R possibly damaging Het
Inpp4b A T 8: 82,678,888 (GRCm39) Q306L probably damaging Het
Kcnq2 T C 2: 180,776,690 (GRCm39) K66E probably benign Het
Kif21b C A 1: 136,097,797 (GRCm39) N1352K probably damaging Het
Lrig3 A T 10: 125,808,003 (GRCm39) N84Y probably damaging Het
Mill2 T A 7: 18,589,884 (GRCm39) Y55* probably null Het
Mmachc T C 4: 116,563,097 (GRCm39) H86R probably damaging Het
Ncbp1 T C 4: 46,165,259 (GRCm39) V524A probably benign Het
Or10ag54 A T 2: 87,099,736 (GRCm39) T204S possibly damaging Het
Or1q1 T A 2: 36,887,358 (GRCm39) C179S probably damaging Het
Or4c102 G A 2: 88,422,897 (GRCm39) V250M probably damaging Het
Or5af1 G A 11: 58,722,813 (GRCm39) V278I probably benign Het
Or5b101 C A 19: 13,005,004 (GRCm39) A230S probably benign Het
Or7g19 T C 9: 18,856,466 (GRCm39) I174T possibly damaging Het
Pigu G T 2: 155,120,549 (GRCm39) Y404* probably null Het
Plaa A T 4: 94,472,244 (GRCm39) probably null Het
Plcg2 A T 8: 118,313,296 (GRCm39) I487F probably damaging Het
Plekhh2 T C 17: 84,867,580 (GRCm39) I162T probably benign Het
Ptprz1 T A 6: 23,001,000 (GRCm39) V1030D probably benign Het
Raver2 C A 4: 100,993,336 (GRCm39) S505R probably benign Het
Samd7 A T 3: 30,810,769 (GRCm39) Q262L probably benign Het
Scn9a T A 2: 66,377,447 (GRCm39) N412Y probably damaging Het
Sytl1 C A 4: 132,986,667 (GRCm39) R91M probably damaging Het
Tead3 A T 17: 28,555,244 (GRCm39) probably benign Het
Themis A T 10: 28,657,882 (GRCm39) Q150L possibly damaging Het
Tmem213 T C 6: 38,086,466 (GRCm39) S41P possibly damaging Het
Tnks1bp1 T C 2: 84,894,144 (GRCm39) V695A probably damaging Het
Trim23 A T 13: 104,324,017 (GRCm39) T159S probably damaging Het
Trim66 T C 7: 109,082,944 (GRCm39) Y166C probably benign Het
Troap A T 15: 98,973,675 (GRCm39) T111S possibly damaging Het
Ttn T C 2: 76,720,734 (GRCm39) probably null Het
Tub T G 7: 108,624,925 (GRCm39) S180A probably damaging Het
Vcan A G 13: 89,851,231 (GRCm39) V1243A possibly damaging Het
Zfp608 T C 18: 55,120,942 (GRCm39) D215G possibly damaging Het
Zfp638 T A 6: 83,944,345 (GRCm39) V1021E probably damaging Het
Zim1 T A 7: 6,680,710 (GRCm39) I318F probably damaging 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
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
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'- AAGGACCACTTACAGGCTCCTG -3'
(R):5'- GAAGGTAACATGCTCCCAGC -3'

Sequencing Primer
(F):5'- CTCCTGGGGCTAATGTCAC -3'
(R):5'- TAACATGCTCCCAGCCCAGC -3'
Posted On 2016-10-24