Incidental Mutation 'IGL02315:Ghitm'
ID |
288003 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ghitm
|
Ensembl Gene |
ENSMUSG00000041028 |
Gene Name |
growth hormone inducible transmembrane protein |
Synonyms |
PTD010, Tmbim5, C77840, 1010001P14Rik |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.269)
|
Stock # |
IGL02315
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
36842401-36857279 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 36853521 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 106
(N106K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153458
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042564]
[ENSMUST00000165649]
[ENSMUST00000224769]
|
AlphaFold |
Q91VC9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000042564
AA Change: N106K
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000046212 Gene: ENSMUSG00000041028 AA Change: N106K
Domain | Start | End | E-Value | Type |
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 benign
Transcript: ENSMUST00000165649
AA Change: N106K
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000129712 Gene: ENSMUSG00000041028 AA Change: N106K
Domain | Start | End | E-Value | Type |
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 benign
Transcript: ENSMUST00000224769
AA Change: N106K
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930402F06Rik |
T |
A |
2: 35,266,185 (GRCm39) |
I162F |
probably damaging |
Het |
Akap8 |
T |
C |
17: 32,524,475 (GRCm39) |
D607G |
probably benign |
Het |
Ap2b1 |
G |
A |
11: 83,227,625 (GRCm39) |
V327I |
probably damaging |
Het |
Bmpr1b |
A |
G |
3: 141,563,290 (GRCm39) |
V218A |
probably damaging |
Het |
Cfap157 |
T |
A |
2: 32,668,177 (GRCm39) |
D421V |
probably benign |
Het |
Ctsm |
A |
G |
13: 61,687,462 (GRCm39) |
V100A |
probably benign |
Het |
Cwf19l2 |
C |
T |
9: 3,410,030 (GRCm39) |
T53I |
probably damaging |
Het |
Dst |
T |
C |
1: 34,237,746 (GRCm39) |
C3663R |
probably damaging |
Het |
Fbxo10 |
T |
A |
4: 45,062,469 (GRCm39) |
H19L |
probably benign |
Het |
Hivep2 |
T |
C |
10: 14,006,983 (GRCm39) |
F1194L |
probably benign |
Het |
Hpse2 |
A |
G |
19: 42,955,386 (GRCm39) |
|
probably benign |
Het |
Ighv1-67 |
C |
T |
12: 115,567,687 (GRCm39) |
G56D |
probably benign |
Het |
Ikzf4 |
A |
G |
10: 128,470,014 (GRCm39) |
F502S |
probably damaging |
Het |
Lrrc24 |
A |
T |
15: 76,602,506 (GRCm39) |
F126L |
probably damaging |
Het |
Mapt |
G |
A |
11: 104,218,904 (GRCm39) |
R355Q |
probably damaging |
Het |
Mug1 |
T |
A |
6: 121,817,126 (GRCm39) |
V65E |
probably benign |
Het |
Myh6 |
T |
C |
14: 55,191,291 (GRCm39) |
E850G |
probably damaging |
Het |
Myh9 |
C |
A |
15: 77,654,173 (GRCm39) |
V1211L |
probably benign |
Het |
Naip2 |
T |
A |
13: 100,297,744 (GRCm39) |
D764V |
probably damaging |
Het |
Or8d2b |
G |
A |
9: 38,789,353 (GRCm39) |
V294I |
probably damaging |
Het |
Parp6 |
A |
G |
9: 59,549,021 (GRCm39) |
|
probably benign |
Het |
Ppp4r4 |
C |
T |
12: 103,566,620 (GRCm39) |
|
probably benign |
Het |
Pramel11 |
T |
C |
4: 143,624,498 (GRCm39) |
|
probably benign |
Het |
Pxylp1 |
A |
G |
9: 96,721,196 (GRCm39) |
L56P |
probably damaging |
Het |
Rita1 |
C |
T |
5: 120,747,858 (GRCm39) |
A147T |
probably damaging |
Het |
Skida1 |
T |
C |
2: 18,050,816 (GRCm39) |
|
probably benign |
Het |
Slc35d2 |
A |
G |
13: 64,254,849 (GRCm39) |
S210P |
possibly damaging |
Het |
Slit2 |
C |
T |
5: 48,145,213 (GRCm39) |
T71M |
probably damaging |
Het |
Spem2 |
A |
T |
11: 69,708,191 (GRCm39) |
L258Q |
probably damaging |
Het |
Stxbp2 |
C |
T |
8: 3,685,607 (GRCm39) |
|
probably benign |
Het |
Vit |
G |
A |
17: 78,930,087 (GRCm39) |
V351I |
possibly damaging |
Het |
Zwilch |
A |
G |
9: 64,057,549 (GRCm39) |
S285P |
probably damaging |
Het |
Zzef1 |
A |
T |
11: 72,766,083 (GRCm39) |
R1537* |
probably null |
Het |
|
Other mutations in Ghitm |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00946:Ghitm
|
APN |
14 |
36,847,203 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
R4019:Ghitm
|
UTSW |
14 |
36,852,651 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
|
|
Posted On |
2015-04-16 |