Incidental Mutation 'R4019:Ghitm'
ID 312699
Institutional Source Beutler Lab
Gene Symbol Ghitm
Ensembl Gene ENSMUSG00000041028
Gene Name growth hormone inducible transmembrane protein
Synonyms PTD010, Tmbim5, C77840, 1010001P14Rik
MMRRC Submission 040953-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.288) question?
Stock # R4019 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 36842401-36857279 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 36852651 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 143 (A143V)
Ref Sequence ENSEMBL: ENSMUSP00000153458 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042564] [ENSMUST00000165649] [ENSMUST00000224769]
AlphaFold Q91VC9
Predicted Effect probably damaging
Transcript: ENSMUST00000042564
AA Change: A143V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000046212
Gene: ENSMUSG00000041028
AA Change: A143V

DomainStartEndE-ValueType
Pfam:BaxI_1 1 94 7.1e-16 PFAM
Pfam:BaxI_1 90 187 1.8e-17 PFAM
Pfam:Bax1-I 122 338 3.8e-42 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000165649
AA Change: A143V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000129712
Gene: ENSMUSG00000041028
AA Change: A143V

DomainStartEndE-ValueType
Pfam:BaxI_1 1 94 7.1e-16 PFAM
Pfam:BaxI_1 90 187 1.8e-17 PFAM
Pfam:Bax1-I 122 338 6.2e-43 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223921
Predicted Effect probably damaging
Transcript: ENSMUST00000224769
AA Change: A143V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acy1 T C 9: 106,313,978 (GRCm39) T61A possibly damaging Het
Ap4e1 C T 2: 126,903,846 (GRCm39) S916F probably benign Het
Brpf1 G A 6: 113,287,243 (GRCm39) R157Q probably damaging Het
Canx A T 11: 50,190,072 (GRCm39) S429T probably damaging Het
Casz1 C T 4: 149,017,335 (GRCm39) P208L probably benign Het
Ctnnd1 C T 2: 84,450,302 (GRCm39) R306H probably damaging Het
Dip2c T C 13: 9,664,401 (GRCm39) V909A probably damaging Het
Epg5 C A 18: 78,073,665 (GRCm39) Q2511K probably damaging Het
Gramd2b T C 18: 56,612,026 (GRCm39) probably null Het
Ifitm3 T C 7: 140,589,772 (GRCm39) T94A possibly damaging Het
Ift81 G A 5: 122,731,192 (GRCm39) T321M probably benign Het
Ikbkb C T 8: 23,161,728 (GRCm39) V387I probably benign Het
Lct T C 1: 128,231,963 (GRCm39) M629V probably damaging Het
Lpar5 A G 6: 125,058,638 (GRCm39) N120D probably damaging Het
Lrrc37 A G 11: 103,506,119 (GRCm39) S1950P probably benign Het
Lrrtm2 T C 18: 35,345,923 (GRCm39) I460V possibly damaging Het
Naip5 T C 13: 100,359,883 (GRCm39) E451G probably benign Het
Naip5 T C 13: 100,359,902 (GRCm39) I445V probably benign Het
Nbas A G 12: 13,532,520 (GRCm39) R1743G probably damaging Het
Nherf4 A T 9: 44,162,117 (GRCm39) probably null Het
Notch1 T C 2: 26,371,154 (GRCm39) T311A probably benign Het
Oplah A G 15: 76,181,476 (GRCm39) Y1155H probably damaging Het
Or4c15 A G 2: 88,760,080 (GRCm39) I193T probably benign Het
Or52k2 T C 7: 102,253,849 (GRCm39) F96S probably damaging Het
Pcnx1 C T 12: 81,965,018 (GRCm39) T395I probably damaging Het
Pdgfb A C 15: 79,885,923 (GRCm39) V108G probably damaging Het
Prpf40b T C 15: 99,214,357 (GRCm39) S846P probably benign Het
Ptprc T A 1: 138,006,254 (GRCm39) H752L probably damaging Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Scn3a A G 2: 65,356,295 (GRCm39) probably benign Het
Sco1 T G 11: 66,954,846 (GRCm39) S284A probably benign Het
Slc25a10 T A 11: 120,388,265 (GRCm39) M227K probably damaging Het
Sox8 A G 17: 25,789,271 (GRCm39) Y76H probably damaging Het
Spdya A C 17: 71,863,309 (GRCm39) K19N possibly damaging Het
Syngap1 C T 17: 27,171,315 (GRCm39) probably benign Het
Sytl3 T C 17: 7,003,892 (GRCm39) S326P probably damaging Het
Tbl3 A G 17: 24,923,695 (GRCm39) V239A probably damaging Het
Tenm2 T C 11: 35,937,901 (GRCm39) I1592V probably benign Het
Vmn2r109 T A 17: 20,774,074 (GRCm39) D427V probably benign Het
Vmn2r115 A G 17: 23,579,017 (GRCm39) K830R probably damaging Het
Vmn2r45 A T 7: 8,474,580 (GRCm39) L816* probably null Het
Zfp335 C T 2: 164,743,380 (GRCm39) R536H probably damaging Het
Zfp777 T A 6: 48,019,046 (GRCm39) Q296L probably damaging Het
Other mutations in Ghitm
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00946:Ghitm APN 14 36,847,203 (GRCm39) missense probably benign 0.00
IGL02315:Ghitm APN 14 36,853,521 (GRCm39) missense probably benign 0.04
R0058:Ghitm UTSW 14 36,853,549 (GRCm39) missense probably damaging 1.00
R0058:Ghitm UTSW 14 36,853,549 (GRCm39) missense probably damaging 1.00
R0090:Ghitm UTSW 14 36,844,176 (GRCm39) missense probably benign
R0386:Ghitm UTSW 14 36,847,868 (GRCm39) missense possibly damaging 0.95
R1969:Ghitm UTSW 14 36,853,586 (GRCm39) missense probably benign 0.00
R4727:Ghitm UTSW 14 36,855,700 (GRCm39) missense probably damaging 0.99
R5364:Ghitm UTSW 14 36,847,174 (GRCm39) missense probably damaging 0.99
R5364:Ghitm UTSW 14 36,847,156 (GRCm39) missense probably benign 0.00
R6107:Ghitm UTSW 14 36,847,166 (GRCm39) missense probably damaging 1.00
R6519:Ghitm UTSW 14 36,847,204 (GRCm39) missense probably damaging 0.98
R6587:Ghitm UTSW 14 36,847,146 (GRCm39) nonsense probably null
R6855:Ghitm UTSW 14 36,847,859 (GRCm39) missense probably null 1.00
R7449:Ghitm UTSW 14 36,853,538 (GRCm39) missense probably damaging 1.00
R9429:Ghitm UTSW 14 36,852,655 (GRCm39) missense probably damaging 1.00
R9446:Ghitm UTSW 14 36,853,606 (GRCm39) missense possibly damaging 0.80
R9789:Ghitm UTSW 14 36,852,719 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AGTGTGCAATTCCTGTCCC -3'
(R):5'- GTGATTTATCCCAGAGCCTTTTGTATC -3'

Sequencing Primer
(F):5'- CAAGCTTTCTGCACTGTTACAAG -3'
(R):5'- ATCCCAGAGCCTTTTGTATCTAATG -3'
Posted On 2015-04-30