Incidental Mutation 'IGL00946:Ghitm'
| ID |
28959 |
| 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: 0.288)
|
| Stock # |
IGL00946
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
36842401-36857279 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 36847203 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 290
(M290I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129712
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042564]
[ENSMUST00000165649]
[ENSMUST00000224769]
|
| AlphaFold |
Q91VC9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042564
AA Change: M290I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000046212
Gene: ENSMUSG00000041028
AA Change: M290I
| 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: M290I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000129712
Gene: ENSMUSG00000041028
AA Change: M290I
| 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 |
probably benign
Transcript: ENSMUST00000224769
|
| 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 |
|---|
| Ahdc1 |
T |
C |
4: 132,790,373 (GRCm39) |
I538T |
probably benign |
Het |
| Bmp10 |
A |
T |
6: 87,411,344 (GRCm39) |
Q379L |
probably damaging |
Het |
| Cacna2d4 |
G |
A |
6: 119,248,876 (GRCm39) |
A446T |
possibly damaging |
Het |
| Chrdl1 |
G |
A |
X: 142,077,164 (GRCm39) |
|
probably benign |
Het |
| Crtc2 |
A |
G |
3: 90,168,112 (GRCm39) |
H370R |
probably damaging |
Het |
| Cubn |
T |
C |
2: 13,461,434 (GRCm39) |
T698A |
probably damaging |
Het |
| Deup1 |
T |
C |
9: 15,472,534 (GRCm39) |
T593A |
possibly damaging |
Het |
| Dus1l |
T |
C |
11: 120,684,701 (GRCm39) |
T157A |
probably damaging |
Het |
| Efcab6 |
T |
C |
15: 83,902,897 (GRCm39) |
N151S |
probably benign |
Het |
| Eif2b5 |
T |
A |
16: 20,324,002 (GRCm39) |
H448Q |
probably benign |
Het |
| Epha8 |
T |
C |
4: 136,673,121 (GRCm39) |
D221G |
probably damaging |
Het |
| Eprs1 |
G |
A |
1: 185,139,898 (GRCm39) |
G996S |
probably benign |
Het |
| Fn1 |
G |
A |
1: 71,684,699 (GRCm39) |
|
probably benign |
Het |
| Gfpt1 |
A |
G |
6: 87,027,924 (GRCm39) |
Y10C |
probably damaging |
Het |
| Gpd2 |
T |
C |
2: 57,158,096 (GRCm39) |
|
probably null |
Het |
| Htr2a |
T |
A |
14: 74,943,582 (GRCm39) |
Y387* |
probably null |
Het |
| Lrrc7 |
T |
A |
3: 157,866,993 (GRCm39) |
Q916L |
probably benign |
Het |
| Mfsd9 |
A |
C |
1: 40,812,940 (GRCm39) |
D458E |
probably benign |
Het |
| Nmb |
T |
C |
7: 80,552,208 (GRCm39) |
I123M |
probably benign |
Het |
| Nrap |
A |
T |
19: 56,329,058 (GRCm39) |
|
probably null |
Het |
| Or10j7 |
A |
T |
1: 173,011,190 (GRCm39) |
D270E |
probably benign |
Het |
| Or4d5 |
A |
G |
9: 40,012,450 (GRCm39) |
I112T |
probably benign |
Het |
| Or4k49 |
T |
A |
2: 111,495,489 (GRCm39) |
M306K |
probably benign |
Het |
| Pola1 |
T |
C |
X: 92,524,145 (GRCm39) |
I1165M |
probably benign |
Het |
| Sdk1 |
G |
T |
5: 142,070,368 (GRCm39) |
|
probably null |
Het |
| Selenon |
T |
A |
4: 134,267,037 (GRCm39) |
|
probably benign |
Het |
| Stk39 |
T |
A |
2: 68,144,908 (GRCm39) |
T389S |
possibly damaging |
Het |
| Tmx3 |
A |
G |
18: 90,558,178 (GRCm39) |
E410G |
possibly damaging |
Het |
| Utp20 |
A |
T |
10: 88,584,177 (GRCm39) |
V2660E |
possibly damaging |
Het |
| Vps52 |
T |
C |
17: 34,175,932 (GRCm39) |
L40P |
possibly damaging |
Het |
| Wdr25 |
C |
T |
12: 108,990,953 (GRCm39) |
S380F |
possibly damaging |
Het |
| Xpo7 |
T |
C |
14: 70,909,098 (GRCm39) |
T808A |
probably benign |
Het |
| Zc3h14 |
T |
C |
12: 98,726,142 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Ghitm |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-04-17 |
Incidental Mutation