Incidental Mutation 'R7915:Tgm1'
ID 648039
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 045963-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.930) question?
Stock # R7915 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 55937466-55951378 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55937883 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 742 (D742G)
Ref Sequence ENSEMBL: ENSMUSP00000002389 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002389] [ENSMUST00000168729] [ENSMUST00000178034]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000002389
AA Change: D742G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000002389
Gene: ENSMUSG00000022218
AA Change: D742G

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 damaging
Transcript: ENSMUST00000168729
AA Change: D742G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000128090
Gene: ENSMUSG00000022218
AA Change: D742G

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 damaging
Transcript: ENSMUST00000178034
AA Change: D742G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000137642
Gene: ENSMUSG00000022218
AA Change: D742G

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 97% (66/68)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T G 17: 24,484,507 (GRCm39) H1585P probably damaging Het
Acaca A T 11: 84,167,414 (GRCm39) T1063S probably benign Het
Actc1 T A 2: 113,880,967 (GRCm39) K86M probably damaging Het
Amz1 A G 5: 140,727,190 (GRCm39) N51S probably benign Het
Arhgap33 G A 7: 30,222,648 (GRCm39) P1095S probably benign Het
Bicra T C 7: 15,722,447 (GRCm39) T357A probably benign Het
C130032M10Rik A G 9: 114,345,123 (GRCm39) R120G unknown Het
Cadps A G 14: 12,705,544 (GRCm38) F284L possibly damaging Het
Ccdc83 G A 7: 89,893,290 (GRCm39) Q156* probably null Het
Cdh20 T A 1: 104,861,898 (GRCm39) M26K probably benign Het
Cdh23 A G 10: 60,143,668 (GRCm39) L2979P probably damaging Het
Cdhr17 A G 5: 17,032,012 (GRCm39) N556D probably benign Het
Crocc2 T C 1: 93,141,363 (GRCm39) L1172P probably damaging Het
Cyp2d10 C T 15: 82,288,628 (GRCm39) probably null Het
Cyp2j9 T A 4: 96,479,621 (GRCm39) probably benign Het
Dgcr2 A G 16: 17,677,266 (GRCm39) probably null Het
Dio3 A G 12: 110,246,473 (GRCm39) M270V Het
Dll1 C A 17: 15,588,690 (GRCm39) D662Y probably damaging Het
Drd1 G T 13: 54,207,834 (GRCm39) P127T probably damaging Het
Evc2 T C 5: 37,544,206 (GRCm39) S652P probably damaging Het
Fam149a C A 8: 45,794,280 (GRCm39) M708I probably benign Het
Fam89a T C 8: 125,467,895 (GRCm39) E139G probably damaging Het
Gpr141 T C 13: 19,936,729 (GRCm39) I15M probably benign Het
Hcn4 G A 9: 58,731,218 (GRCm39) E142K unknown Het
Hivep3 T A 4: 119,954,962 (GRCm39) S1093T possibly damaging Het
Inpp5f C A 7: 128,269,433 (GRCm39) T261K probably benign Het
Ints3 A T 3: 90,340,132 (GRCm39) D42E probably benign Het
Krt90 A T 15: 101,466,838 (GRCm39) probably null Het
Kti12 A C 4: 108,705,443 (GRCm39) E119A probably benign Het
Kti12 G T 4: 108,705,444 (GRCm39) E119D probably benign Het
Lrig1 C A 6: 94,607,082 (GRCm39) probably null Het
Mapk14 A G 17: 28,947,928 (GRCm39) T221A probably benign Het
Megf10 A T 18: 57,373,807 (GRCm39) T202S probably benign Het
Neo1 A T 9: 58,838,264 (GRCm39) F507I probably benign Het
Or7a35 A G 10: 78,853,264 (GRCm39) Y36C probably damaging Het
Or8b48 A T 9: 38,492,969 (GRCm39) Y132F probably damaging Het
Or8k37 T A 2: 86,469,110 (GRCm39) *314L probably null Het
Peg10 T TCCA 6: 4,756,451 (GRCm39) probably benign Het
Pkd1 T A 17: 24,811,630 (GRCm39) Y3724* probably null Het
Plxnd1 T C 6: 115,943,879 (GRCm39) D1140G probably benign Het
Pramel22 T C 4: 143,382,315 (GRCm39) K127R possibly damaging Het
Prex1 A G 2: 166,463,112 (GRCm39) S250P probably damaging Het
Prom1 A T 5: 44,162,277 (GRCm39) M777K possibly damaging Het
Prrc2c A C 1: 162,519,977 (GRCm39) S2125A probably benign Het
Ptpn12 A G 5: 21,214,449 (GRCm39) I229T probably damaging Het
Ranbp6 A G 19: 29,790,073 (GRCm39) V93A probably benign Het
Rtn3 A G 19: 7,434,865 (GRCm39) C376R probably benign Het
Sis A C 3: 72,828,471 (GRCm39) H1201Q probably damaging Het
Slc20a1 G A 2: 129,049,757 (GRCm39) D340N probably benign Het
Slc3a2 G A 19: 8,685,182 (GRCm39) R535W probably damaging Het
Slc5a2 T A 7: 127,864,966 (GRCm39) L33Q probably damaging Het
Sltm G T 9: 70,494,431 (GRCm39) R927L probably damaging Het
Spaca7b T C 8: 11,728,645 (GRCm39) T9A possibly damaging Het
Stat1 A G 1: 52,190,440 (GRCm39) D565G probably benign Het
Terb1 T C 8: 105,173,848 (GRCm39) K745R possibly damaging Het
Tescl T C 7: 24,033,113 (GRCm39) I71V probably damaging Het
Tmem128 T A 5: 38,423,875 (GRCm39) W30R probably benign Het
Tox T A 4: 6,822,949 (GRCm39) M123L probably benign Het
Tsnaxip1 A G 8: 106,569,413 (GRCm39) S547G possibly damaging Het
Ttn T A 2: 76,567,539 (GRCm39) K27785* probably null Het
Tut7 T C 13: 59,932,628 (GRCm39) I1345V probably benign Het
Usp38 A C 8: 81,727,712 (GRCm39) S340R probably damaging Het
Utrn A T 10: 12,340,956 (GRCm39) H2840Q probably damaging Het
Vars2 T C 17: 35,975,731 (GRCm39) I229V probably damaging Het
Vmn1r16 A T 6: 57,300,380 (GRCm39) Y81N probably damaging Het
Vmn2r98 A T 17: 19,287,493 (GRCm39) D442V probably benign Het
Vps13d T C 4: 144,813,389 (GRCm39) I3296V Het
Wwtr1 A G 3: 57,483,020 (GRCm39) probably null 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
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
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'- AGGTATGTTCTCCCCAGAGC -3'
(R):5'- CATCAAGCTGTGTGGAGGTG -3'

Sequencing Primer
(F):5'- GTATGTTCTCCCCAGAGCGACTG -3'
(R):5'- CTGTGTGGAGGTGGCCAAG -3'
Posted On 2020-09-15