Incidental Mutation 'R0786:Tmigd3'
ID 76845
Institutional Source Beutler Lab
Gene Symbol Tmigd3
Ensembl Gene ENSMUSG00000074344
Gene Name transmembrane and immunoglobulin domain containing 3
Synonyms
MMRRC Submission 038966-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0786 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 105778219-105831358 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 105824318 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 96 (C96S)
Ref Sequence ENSEMBL: ENSMUSP00000142695 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010279] [ENSMUST00000196748] [ENSMUST00000198080] [ENSMUST00000199977] [ENSMUST00000200482]
AlphaFold G3X8R9
Predicted Effect probably damaging
Transcript: ENSMUST00000010279
AA Change: C96S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000010279
Gene: ENSMUSG00000074344
AA Change: C96S

DomainStartEndE-ValueType
low complexity region 3 13 N/A INTRINSIC
IG 20 115 3.94e0 SMART
transmembrane domain 151 173 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000196748
SMART Domains Protein: ENSMUSP00000143674
Gene: ENSMUSG00000074344

DomainStartEndE-ValueType
Pfam:7tm_4 21 131 7.3e-9 PFAM
Pfam:7TM_GPCR_Srsx 24 123 1.3e-7 PFAM
Pfam:7tm_1 30 129 2.9e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000198080
AA Change: C96S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143300
Gene: ENSMUSG00000074344
AA Change: C96S

DomainStartEndE-ValueType
low complexity region 3 13 N/A INTRINSIC
IG 20 115 3.94e0 SMART
transmembrane domain 151 173 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000199977
AA Change: C96S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142671
Gene: ENSMUSG00000074344
AA Change: C96S

DomainStartEndE-ValueType
low complexity region 3 13 N/A INTRINSIC
IG 20 115 1.6e-2 SMART
transmembrane domain 151 173 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000200482
AA Change: C96S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142695
Gene: ENSMUSG00000074344
AA Change: C96S

DomainStartEndE-ValueType
low complexity region 3 13 N/A INTRINSIC
IG 20 115 1.6e-2 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.6%
  • 20x: 92.6%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a transmembrane and immunoglobulin domain-containing protein. Alternative splicing results in multiple transcript variants, one of which shares its 3' terminal exon with that of the overlapping adenosine A3 receptor gene (GeneID:11542). [provided by RefSeq, Nov 2014]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adrb3 T C 8: 27,716,880 (GRCm39) probably benign Het
Atg2b T C 12: 105,602,767 (GRCm39) H1592R probably benign Het
Bpifb1 C T 2: 154,044,581 (GRCm39) A16V probably benign Het
Cep57 T A 9: 13,721,166 (GRCm39) Y271F probably damaging Het
Cfap54 A T 10: 92,803,397 (GRCm39) N1548K possibly damaging Het
Chrna6 A T 8: 27,898,408 (GRCm39) D103E probably benign Het
Clec12b T C 6: 129,357,651 (GRCm39) N69S probably benign Het
Col27a1 T C 4: 63,209,815 (GRCm39) probably null Het
Cwh43 T A 5: 73,565,526 (GRCm39) Y30* probably null Het
Dnai7 A G 6: 145,127,483 (GRCm39) probably null Het
Dsg4 T C 18: 20,582,429 (GRCm39) probably null Het
Efna3 T C 3: 89,223,880 (GRCm39) N103S probably damaging Het
Efr3a A G 15: 65,725,400 (GRCm39) D532G possibly damaging Het
Fam227a A T 15: 79,510,469 (GRCm39) V395D probably benign Het
Fes T A 7: 80,036,668 (GRCm39) D93V probably damaging Het
Gbp3 T A 3: 142,276,732 (GRCm39) M510K possibly damaging Het
Gpr12 A T 5: 146,520,314 (GRCm39) S44T probably damaging Het
Gpr179 T C 11: 97,234,100 (GRCm39) N583S probably damaging Het
Hipk1 T C 3: 103,651,620 (GRCm39) T1093A probably benign Het
Hspb1 T C 5: 135,918,097 (GRCm39) L148P probably damaging Het
Kirrel3 A G 9: 34,946,161 (GRCm39) N640S probably damaging Het
Mak G T 13: 41,199,545 (GRCm39) Q365K probably benign Het
Melk A G 4: 44,303,649 (GRCm39) Y14C unknown Het
Myh7 T C 14: 55,230,330 (GRCm39) M1V probably null Het
Nsmf A G 2: 24,950,522 (GRCm39) Y330C probably damaging Het
Parp14 A G 16: 35,661,172 (GRCm39) F1592S possibly damaging Het
Pnpla6 A T 8: 3,573,317 (GRCm39) I394F probably benign Het
Ppl T C 16: 4,906,918 (GRCm39) R1126G probably damaging Het
Prss8 C T 7: 127,525,646 (GRCm39) R291Q probably benign Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rasgrp1 G T 2: 117,130,980 (GRCm39) D155E probably benign Het
Recql5 T C 11: 115,786,628 (GRCm39) I563V probably benign Het
Rhbg C T 3: 88,151,875 (GRCm39) M394I probably benign Het
Rnf130 A G 11: 49,978,264 (GRCm39) D275G probably damaging Het
Smg9 T C 7: 24,120,289 (GRCm39) F421S probably benign Het
Tgm2 T C 2: 157,966,301 (GRCm39) E451G probably damaging Het
Tle1 T A 4: 72,117,598 (GRCm39) T21S probably damaging Het
Tmc5 T C 7: 118,226,433 (GRCm39) I266T possibly damaging Het
Trdn A T 10: 33,181,077 (GRCm39) T361S probably benign Het
Vgll3 A T 16: 65,657,568 (GRCm39) Q261L probably benign Het
Vmn2r104 A T 17: 20,262,987 (GRCm39) I158K probably benign Het
Zfp964 A G 8: 70,116,731 (GRCm39) K444E possibly damaging Het
Other mutations in Tmigd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00535:Tmigd3 APN 3 105,824,384 (GRCm39) nonsense probably null
R0230:Tmigd3 UTSW 3 105,826,053 (GRCm39) missense possibly damaging 0.94
R0315:Tmigd3 UTSW 3 105,824,085 (GRCm39) missense probably damaging 1.00
R8879:Tmigd3 UTSW 3 105,829,277 (GRCm39) missense probably benign 0.04
R8947:Tmigd3 UTSW 3 105,821,554 (GRCm39) missense probably benign 0.03
R9266:Tmigd3 UTSW 3 105,824,216 (GRCm39) missense probably benign 0.01
R9587:Tmigd3 UTSW 3 105,824,088 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGAAATCAGGTGTTGAGCTGGAGAC -3'
(R):5'- GCTCCATCCTGCTTAGTGGAATCG -3'

Sequencing Primer
(F):5'- CTGTGTCTATGATGCCTACTACAAGG -3'
(R):5'- tggatggcttggaactcac -3'
Posted On 2013-10-16