Incidental Mutation 'R0058:Ghitm'
ID18411
Institutional Source Beutler Lab
Gene Symbol Ghitm
Ensembl Gene ENSMUSG00000041028
Gene Namegrowth hormone inducible transmembrane protein
SynonymsC77840, Tmbim5, 1010001P14Rik, PTD010
MMRRC Submission 038352-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.200) question?
Stock #R0058 (G1)
Quality Score
Status Validated
Chromosome14
Chromosomal Location37120092-37135272 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 37131592 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 97 (L97P)
Ref Sequence ENSEMBL: ENSMUSP00000153458 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042564] [ENSMUST00000165649] [ENSMUST00000224769]
Predicted Effect probably damaging
Transcript: ENSMUST00000042564
AA Change: L97P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000046212
Gene: ENSMUSG00000041028
AA Change: L97P

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: L97P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129712
Gene: ENSMUSG00000041028
AA Change: L97P

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: L97P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.028 question?
Coding Region Coverage
  • 1x: 87.4%
  • 3x: 82.9%
  • 10x: 66.9%
  • 20x: 41.4%
Validation Efficiency 85% (62/73)
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,182,672 V6088A possibly damaging Het
Ankrd36 A G 11: 5,630,691 probably benign Het
Anxa1 A T 19: 20,383,777 Y84N probably damaging Het
Arnt2 G A 7: 84,347,530 R63C probably damaging Het
Avpr1b A G 1: 131,599,786 T16A probably benign Het
Cables1 A G 18: 11,923,413 E316G possibly damaging Het
Cadm1 A T 9: 47,850,331 I427L probably damaging Het
Dazap1 T C 10: 80,261,581 probably benign Het
Dip2b A G 15: 100,215,240 E1512G probably benign Het
Dock1 G A 7: 135,108,761 V1171M possibly damaging Het
Dock5 A T 14: 67,781,036 F1230Y probably benign Het
Dst T C 1: 34,006,224 S13P possibly damaging Het
Dym G A 18: 75,043,172 E15K possibly damaging Het
Faf1 A G 4: 109,736,624 Q133R probably benign Het
Fcer2a T C 8: 3,688,111 probably benign Het
Fmo2 A T 1: 162,886,324 S204R probably benign Het
Gins4 A G 8: 23,229,510 probably benign Het
Gm10573 G A 4: 121,920,736 Het
Golga3 T A 5: 110,202,777 F766Y possibly damaging Het
Hapln1 T C 13: 89,607,878 I267T probably benign Het
Helz A T 11: 107,672,558 probably benign Het
Igll1 A T 16: 16,863,876 V5E probably benign Het
Kif16b A G 2: 142,857,305 probably null Het
Limk1 A T 5: 134,659,871 W507R probably damaging Het
Marf1 C T 16: 14,142,534 A549T probably damaging Het
Mtif3 C A 5: 146,956,921 V159F probably benign Het
Ncoa7 T A 10: 30,647,541 D887V probably damaging Het
Pkd1 G C 17: 24,564,703 A162P probably benign Het
Plce1 A G 19: 38,525,184 D309G possibly damaging Het
Plk4 T C 3: 40,805,872 V401A probably benign Het
Prrc2c C T 1: 162,698,884 V253I unknown Het
Ranbp2 T A 10: 58,480,531 S2358T probably damaging Het
Setd2 T A 9: 110,594,426 V2183E probably damaging Het
Sgsm1 T A 5: 113,285,087 S232C probably damaging Het
Skint6 A T 4: 113,046,815 probably benign Het
Slc15a2 A G 16: 36,754,547 I531T probably benign Het
Slc36a1 C T 11: 55,221,994 probably benign Het
Sptan1 T C 2: 29,993,696 probably null Het
Tex15 C T 8: 33,581,502 probably benign Het
Tlr9 T G 9: 106,224,965 L485R possibly damaging Het
Tmem207 A G 16: 26,524,829 probably benign Het
Triml2 T C 8: 43,185,269 probably benign Het
Tspear T C 10: 77,869,631 F288L probably benign Het
Zfp644 A T 5: 106,637,003 S559R possibly damaging Het
Other mutations in Ghitm
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00946:Ghitm APN 14 37125246 missense probably benign 0.00
IGL02315:Ghitm APN 14 37131564 missense probably benign 0.04
R0058:Ghitm UTSW 14 37131592 missense probably damaging 1.00
R0090:Ghitm UTSW 14 37122219 missense probably benign
R0386:Ghitm UTSW 14 37125911 missense possibly damaging 0.95
R1969:Ghitm UTSW 14 37131629 missense probably benign 0.00
R4019:Ghitm UTSW 14 37130694 missense probably damaging 0.99
R4727:Ghitm UTSW 14 37133743 missense probably damaging 0.99
R5364:Ghitm UTSW 14 37125199 missense probably benign 0.00
R5364:Ghitm UTSW 14 37125217 missense probably damaging 0.99
R6107:Ghitm UTSW 14 37125209 missense probably damaging 1.00
R6519:Ghitm UTSW 14 37125247 missense probably damaging 0.98
R6587:Ghitm UTSW 14 37125189 nonsense probably null
R6855:Ghitm UTSW 14 37125902 missense probably null 1.00
Posted On2013-03-25