Incidental Mutation 'R5741:Tmigd1'
ID444801
Institutional Source Beutler Lab
Gene Symbol Tmigd1
Ensembl Gene ENSMUSG00000020839
Gene Nametransmembrane and immunoglobulin domain containing 1
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R5741 (G1)
Quality Score225
Status Not validated
Chromosome11
Chromosomal Location76902159-76916587 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 76907090 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 86 (V86A)
Ref Sequence ENSEMBL: ENSMUSP00000121222 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072633] [ENSMUST00000102495] [ENSMUST00000142166]
Predicted Effect possibly damaging
Transcript: ENSMUST00000072633
AA Change: V86A

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000072427
Gene: ENSMUSG00000020839
AA Change: V86A

DomainStartEndE-ValueType
IG_like 38 119 6.75e1 SMART
IGc2 133 201 4.63e-8 SMART
transmembrane domain 217 239 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000102495
AA Change: V86A

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000099553
Gene: ENSMUSG00000020839
AA Change: V86A

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
IG_like 38 119 6.75e1 SMART
IGc2 133 201 4.63e-8 SMART
transmembrane domain 217 239 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136899
Predicted Effect possibly damaging
Transcript: ENSMUST00000142166
AA Change: V86A

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000121222
Gene: ENSMUSG00000020839
AA Change: V86A

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:Ig_2 27 120 3.8e-6 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810010H24Rik T G 11: 107,028,489 F220C probably damaging Het
4932443I19Rik A T 8: 13,734,835 Q32L possibly damaging Het
Acox3 C T 5: 35,608,324 H140Y probably benign Het
Ano3 A T 2: 110,658,273 I938K probably benign Het
Ap3m1 A C 14: 21,045,720 I14S possibly damaging Het
Arg1 T C 10: 24,917,999 T127A probably benign Het
Asah2 A G 19: 32,008,615 Y552H probably damaging Het
Chst12 A G 5: 140,523,933 N105S probably benign Het
Cped1 G A 6: 22,123,621 V458I probably benign Het
Cyld T G 8: 88,744,846 I786S probably damaging Het
Cyp2j8 C T 4: 96,444,643 V489I probably benign Het
Dlgap4 T C 2: 156,711,048 Y462H probably damaging Het
Dnah5 C A 15: 28,246,367 A617D probably benign Het
Erc2 T A 14: 28,302,869 probably null Het
Fancm A G 12: 65,101,615 N668S probably benign Het
Gm5592 A G 7: 41,289,201 I636V probably benign Het
Gtf2h2 A T 13: 100,480,558 C247S probably benign Het
Hyal5 T A 6: 24,876,495 H122Q probably damaging Het
Ints10 G A 8: 68,804,922 R258K probably damaging Het
Kir3dl1 G A X: 136,526,482 D56N probably damaging Het
Lrguk T A 6: 34,048,867 D199E probably damaging Het
Lyst A G 13: 13,634,030 D95G probably benign Het
Map2k1 A T 9: 64,214,601 L30Q possibly damaging Het
Nell1 G A 7: 50,560,890 probably null Het
Nfatc3 T A 8: 106,079,066 I181N probably damaging Het
Nipbl T C 15: 8,324,649 K1668R possibly damaging Het
Olfr1467 A G 19: 13,365,483 N285S probably damaging Het
Olfr862 A G 9: 19,883,561 V248A possibly damaging Het
Olfr924 T A 9: 38,848,603 L163* probably null Het
Otud7b C T 3: 96,144,304 T189I probably damaging Het
Pkia A T 3: 7,442,045 E62D probably benign Het
Plcb3 G A 19: 6,954,422 Q1154* probably null Het
Pole4 T C 6: 82,651,466 E105G probably damaging Het
Ppp1r3a A G 6: 14,719,883 V344A probably damaging Het
Ptpn21 A T 12: 98,679,289 L1130Q probably damaging Het
Rapgef5 A G 12: 117,756,029 D564G probably damaging Het
Samhd1 C T 2: 157,112,831 R387H probably benign Het
Spag1 A G 15: 36,183,703 K65E possibly damaging Het
Spata31d1d A T 13: 59,728,686 V345D possibly damaging Het
Spin1 G A 13: 51,149,135 V255I possibly damaging Het
Tmem171 A G 13: 98,692,051 V197A probably benign Het
Ttn T C 2: 76,712,073 D31777G probably damaging Het
Tymp T A 15: 89,376,436 M60L probably benign Het
Ugdh T C 5: 65,427,523 T19A probably damaging Het
Vmn1r234 G T 17: 21,229,469 C215F probably benign Het
Wnt5b T C 6: 119,433,729 D250G probably damaging Het
Xrn1 T A 9: 96,045,551 C1463S probably benign Het
Zfp831 T A 2: 174,645,152 I540N possibly damaging Het
Zmynd8 T C 2: 165,840,017 D189G probably damaging Het
Other mutations in Tmigd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02887:Tmigd1 APN 11 76913986 missense probably benign 0.00
IGL03177:Tmigd1 APN 11 76906948 missense probably benign 0.06
R0305:Tmigd1 UTSW 11 76907134 missense probably damaging 1.00
R1440:Tmigd1 UTSW 11 76910160 missense probably damaging 1.00
R1942:Tmigd1 UTSW 11 76914079 critical splice donor site probably null
R2155:Tmigd1 UTSW 11 76910173 missense probably benign 0.14
R3104:Tmigd1 UTSW 11 76910298 missense possibly damaging 0.93
R3105:Tmigd1 UTSW 11 76910298 missense possibly damaging 0.93
R3106:Tmigd1 UTSW 11 76910298 missense possibly damaging 0.93
R5712:Tmigd1 UTSW 11 76907032 missense probably damaging 1.00
R5837:Tmigd1 UTSW 11 76916085 utr 3 prime probably benign
Predicted Primers PCR Primer
(F):5'- CAGGCTCTGTTTTAACTGTGAATGG -3'
(R):5'- AATAGGCTAGACACAGTGGCTG -3'

Sequencing Primer
(F):5'- TTTAACTGTGAATGGTAGAACTGAG -3'
(R):5'- CTAGCCTGGGCAATATTATGAGCC -3'
Posted On2016-11-21