Incidental Mutation 'R4697:Tgm1'
ID 355796
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 041947-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.931) question?
Stock # R4697 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 55700009-55713926 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 55705681 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 567 (N567K)
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: N567K

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000002389
Gene: ENSMUSG00000022218
AA Change: N567K

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: N567K

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000128090
Gene: ENSMUSG00000022218
AA Change: N567K

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: N567K

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000137642
Gene: ENSMUSG00000022218
AA Change: N567K

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 0.0953 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency 96% (75/78)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030624J02Rik T A 7: 118,791,448 (GRCm38) I455N probably damaging Het
A2m T C 6: 121,638,284 (GRCm38) M1T probably null Het
Aatf T A 11: 84,449,138 (GRCm38) D449V probably damaging Het
Acbd3 T A 1: 180,721,944 (GRCm38) probably benign Het
Bicc1 T A 10: 70,953,484 (GRCm38) I366F possibly damaging Het
Ccdc74a T C 16: 17,649,749 (GRCm38) S184P possibly damaging Het
Cntn4 T C 6: 106,525,485 (GRCm38) V401A probably damaging Het
Cux2 T C 5: 121,873,753 (GRCm38) T540A probably damaging Het
Disp2 G T 2: 118,791,684 (GRCm38) E966* probably null Het
Dpp7 A G 2: 25,354,919 (GRCm38) Y209H probably benign Het
Dstyk T A 1: 132,449,487 (GRCm38) F277Y probably damaging Het
Dtx1 A T 5: 120,694,408 (GRCm38) probably null Het
Ear-ps2 G A 14: 44,047,060 (GRCm38) noncoding transcript Het
Ednra T C 8: 77,664,995 (GRCm38) H422R probably benign Het
Erlec1 T A 11: 30,952,640 (GRCm38) I67F probably benign Het
Fam161b G A 12: 84,348,558 (GRCm38) probably benign Het
Gata5 A T 2: 180,327,379 (GRCm38) C345* probably null Het
Glmp T C 3: 88,328,274 (GRCm38) V47A probably damaging Het
Gm9762 T A 3: 78,966,550 (GRCm38) noncoding transcript Het
Gnas A T 2: 174,298,080 (GRCm38) D14V probably damaging Het
Gnl3 T C 14: 31,017,329 (GRCm38) S53G probably damaging Het
Grhl3 C T 4: 135,548,466 (GRCm38) V527M probably damaging Het
Hoxd10 T A 2: 74,694,187 (GRCm38) L281* probably null Het
Kif16b T G 2: 142,690,694 (GRCm38) Y1175S probably benign Het
Kif2b A G 11: 91,576,846 (GRCm38) S204P probably benign Het
Klhl40 T A 9: 121,778,734 (GRCm38) I320N probably damaging Het
Ksr2 G A 5: 117,708,147 (GRCm38) R693Q probably damaging Het
Mis12 A G 11: 71,025,326 (GRCm38) K62E possibly damaging Het
Mlc1 A G 15: 88,974,777 (GRCm38) C102R probably damaging Het
Muc5b T C 7: 141,857,361 (GRCm38) I1348T unknown Het
Myh7b A G 2: 155,629,322 (GRCm38) E1130G probably damaging Het
Nat8f4 T C 6: 85,901,386 (GRCm38) T52A probably benign Het
Nxpe2 C A 9: 48,320,521 (GRCm38) V379L probably benign Het
Or10ad1c G A 15: 98,186,868 (GRCm38) R310W probably damaging Het
Or4c1 C A 2: 89,302,902 (GRCm38) S230I possibly damaging Het
Or4c1 T A 2: 89,302,903 (GRCm38) S230C probably damaging Het
Or5b111 A T 19: 13,313,717 (GRCm38) D189E probably benign Het
Or5b12 C T 19: 12,919,934 (GRCm38) C125Y probably damaging Het
Pcdhga7 A T 18: 37,717,208 (GRCm38) Y756F probably damaging Het
Pcsk6 T A 7: 65,959,241 (GRCm38) Y284N probably damaging Het
Pdcd11 T C 19: 47,126,347 (GRCm38) V1367A possibly damaging Het
Postn T A 3: 54,375,071 (GRCm38) N484K probably damaging Het
Prkd3 C T 17: 78,961,171 (GRCm38) V572I probably benign Het
Qser1 T C 2: 104,787,183 (GRCm38) S1005G probably benign Het
Radil G T 5: 142,486,801 (GRCm38) D951E probably benign Het
Ripk1 C T 13: 34,027,942 (GRCm38) R352* probably null Het
Sacs T C 14: 61,212,747 (GRCm38) F4081L probably benign Het
Sbf1 A G 15: 89,315,085 (GRCm38) V11A possibly damaging Het
Sgip1 T A 4: 102,934,587 (GRCm38) F536I probably damaging Het
Slc45a1 A G 4: 150,638,284 (GRCm38) L381P probably damaging Het
Smarcad1 C T 6: 65,052,641 (GRCm38) P71L probably benign Het
Spns1 T A 7: 126,377,037 (GRCm38) D14V probably damaging Het
Sv2c T A 13: 95,986,018 (GRCm38) I417F possibly damaging Het
Tas2r113 T A 6: 132,893,516 (GRCm38) M169K probably benign Het
Thoc2l A G 5: 104,522,240 (GRCm38) K1543E probably benign Het
Tln2 C T 9: 67,395,461 (GRCm38) R76Q probably damaging Het
Trpm6 T C 19: 18,853,791 (GRCm38) V1340A probably benign Het
Tspan18 A T 2: 93,312,030 (GRCm38) probably null Het
Txndc11 C T 16: 11,084,314 (GRCm38) V679I probably damaging Het
Usf1 G T 1: 171,416,964 (GRCm38) G144V possibly damaging Het
Vmn1r59 T C 7: 5,454,452 (GRCm38) Y103C probably damaging Het
Vmn2r23 A T 6: 123,741,826 (GRCm38) I713F probably damaging Het
Vmn2r79 A T 7: 87,037,960 (GRCm38) I850F probably damaging Het
Wdr90 C T 17: 25,855,363 (GRCm38) R676H probably benign Het
Zfp867 G A 11: 59,463,661 (GRCm38) R281W probably damaging Het
Zfp939 T C 7: 39,472,942 (GRCm38) noncoding transcript Het
Other mutations in Tgm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02206:Tgm1 APN 14 55,704,935 (GRCm38) missense possibly damaging 0.92
IGL02934:Tgm1 APN 14 55,709,989 (GRCm38) missense probably damaging 1.00
IGL03243:Tgm1 APN 14 55,705,907 (GRCm38) missense probably damaging 0.98
IGL03282:Tgm1 APN 14 55,711,070 (GRCm38) missense probably damaging 1.00
PIT4458001:Tgm1 UTSW 14 55,712,565 (GRCm38) missense unknown
R0277:Tgm1 UTSW 14 55,712,652 (GRCm38) unclassified probably benign
R0277:Tgm1 UTSW 14 55,710,927 (GRCm38) unclassified probably benign
R0478:Tgm1 UTSW 14 55,700,334 (GRCm38) nonsense probably null
R1349:Tgm1 UTSW 14 55,711,201 (GRCm38) unclassified probably benign
R1594:Tgm1 UTSW 14 55,709,519 (GRCm38) missense probably damaging 0.96
R1776:Tgm1 UTSW 14 55,709,397 (GRCm38) missense probably damaging 0.99
R1852:Tgm1 UTSW 14 55,704,941 (GRCm38) missense probably damaging 1.00
R1988:Tgm1 UTSW 14 55,705,577 (GRCm38) missense probably benign 0.00
R2064:Tgm1 UTSW 14 55,709,471 (GRCm38) missense probably damaging 1.00
R2139:Tgm1 UTSW 14 55,709,543 (GRCm38) missense probably damaging 1.00
R2427:Tgm1 UTSW 14 55,712,100 (GRCm38) critical splice donor site probably null
R3710:Tgm1 UTSW 14 55,712,595 (GRCm38) unclassified probably benign
R3917:Tgm1 UTSW 14 55,712,757 (GRCm38) splice site probably benign
R4804:Tgm1 UTSW 14 55,705,619 (GRCm38) missense probably benign 0.38
R5074:Tgm1 UTSW 14 55,709,935 (GRCm38) missense probably damaging 1.00
R5341:Tgm1 UTSW 14 55,700,248 (GRCm38) missense possibly damaging 0.90
R5346:Tgm1 UTSW 14 55,711,172 (GRCm38) missense probably damaging 0.99
R5557:Tgm1 UTSW 14 55,705,643 (GRCm38) missense probably benign 0.10
R5566:Tgm1 UTSW 14 55,712,436 (GRCm38) missense probably damaging 0.99
R5828:Tgm1 UTSW 14 55,705,554 (GRCm38) missense probably benign 0.38
R6802:Tgm1 UTSW 14 55,712,482 (GRCm38) unclassified probably benign
R7017:Tgm1 UTSW 14 55,704,941 (GRCm38) missense possibly damaging 0.76
R7094:Tgm1 UTSW 14 55,704,843 (GRCm38) missense possibly damaging 0.53
R7549:Tgm1 UTSW 14 55,705,903 (GRCm38) missense probably benign 0.02
R7731:Tgm1 UTSW 14 55,710,521 (GRCm38) missense probably benign 0.21
R7799:Tgm1 UTSW 14 55,712,475 (GRCm38) missense unknown
R7915:Tgm1 UTSW 14 55,700,426 (GRCm38) missense probably damaging 0.98
R7956:Tgm1 UTSW 14 55,708,895 (GRCm38) missense probably benign 0.01
R8098:Tgm1 UTSW 14 55,710,534 (GRCm38) missense probably damaging 1.00
R8190:Tgm1 UTSW 14 55,704,884 (GRCm38) missense probably damaging 1.00
R8423:Tgm1 UTSW 14 55,705,643 (GRCm38) missense probably benign 0.35
R8493:Tgm1 UTSW 14 55,700,297 (GRCm38) missense probably damaging 1.00
R8859:Tgm1 UTSW 14 55,712,229 (GRCm38) missense probably benign 0.01
R9170:Tgm1 UTSW 14 55,708,898 (GRCm38) missense probably damaging 1.00
R9300:Tgm1 UTSW 14 55,704,846 (GRCm38) missense probably benign 0.05
R9365:Tgm1 UTSW 14 55,704,892 (GRCm38) missense probably damaging 0.96
R9407:Tgm1 UTSW 14 55,705,534 (GRCm38) nonsense probably null
R9499:Tgm1 UTSW 14 55,713,476 (GRCm38) start gained probably benign
R9520:Tgm1 UTSW 14 55,704,839 (GRCm38) missense probably damaging 1.00
R9552:Tgm1 UTSW 14 55,713,476 (GRCm38) start gained probably benign
R9664:Tgm1 UTSW 14 55,710,984 (GRCm38) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CCAGAGACACCAGTGTAGTAGG -3'
(R):5'- CATTGTCACAAAGGCGATCCAC -3'

Sequencing Primer
(F):5'- CACCAGTGTAGTAGGTGACAC -3'
(R):5'- GATCCACTCCAACAATCGAGAGG -3'
Posted On 2015-10-21