Incidental Mutation 'R6587:Ghitm'
ID |
524463 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ghitm
|
Ensembl Gene |
ENSMUSG00000041028 |
Gene Name |
growth hormone inducible transmembrane protein |
Synonyms |
PTD010, Tmbim5, C77840, 1010001P14Rik |
MMRRC Submission |
044711-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.269)
|
Stock # |
R6587 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
36842401-36857279 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 36847146 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 309
(Y309*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129712
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042564]
[ENSMUST00000165649]
[ENSMUST00000224769]
|
AlphaFold |
Q91VC9 |
Predicted Effect |
probably null
Transcript: ENSMUST00000042564
AA Change: Y309*
|
SMART Domains |
Protein: ENSMUSP00000046212 Gene: ENSMUSG00000041028 AA Change: Y309*
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 null
Transcript: ENSMUST00000165649
AA Change: Y309*
|
SMART Domains |
Protein: ENSMUSP00000129712 Gene: ENSMUSG00000041028 AA Change: Y309*
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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Anapc2 |
TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG |
TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG |
2: 25,162,550 (GRCm39) |
|
probably benign |
Het |
Ank3 |
G |
T |
10: 69,825,982 (GRCm39) |
|
probably benign |
Het |
Ano3 |
C |
A |
2: 110,628,249 (GRCm39) |
|
probably null |
Het |
Arhgap39 |
A |
G |
15: 76,621,699 (GRCm39) |
S301P |
probably damaging |
Het |
Atad2 |
G |
T |
15: 57,984,444 (GRCm39) |
Q295K |
probably benign |
Het |
Camkmt |
T |
C |
17: 85,421,243 (GRCm39) |
V115A |
possibly damaging |
Het |
Cenpf |
T |
C |
1: 189,390,571 (GRCm39) |
E1087G |
probably damaging |
Het |
Cfhr2 |
T |
A |
1: 139,738,596 (GRCm39) |
I322F |
probably benign |
Het |
Chil6 |
T |
C |
3: 106,312,197 (GRCm39) |
M35V |
probably benign |
Het |
Cyp3a44 |
T |
C |
5: 145,742,569 (GRCm39) |
T11A |
probably benign |
Het |
Fiz1 |
C |
T |
7: 5,011,400 (GRCm39) |
A373T |
possibly damaging |
Het |
Klhl18 |
T |
C |
9: 110,284,494 (GRCm39) |
H64R |
probably damaging |
Het |
Krt78 |
T |
C |
15: 101,860,704 (GRCm39) |
K201R |
probably benign |
Het |
Lpar3 |
T |
C |
3: 145,946,918 (GRCm39) |
F199L |
probably damaging |
Het |
Mindy3 |
G |
A |
2: 12,352,927 (GRCm39) |
Q425* |
probably null |
Het |
Or5b114-ps1 |
A |
T |
19: 13,352,977 (GRCm39) |
Y217F |
unknown |
Het |
P2rx7 |
A |
C |
5: 122,802,613 (GRCm39) |
N207T |
probably damaging |
Het |
Pcdhb7 |
T |
G |
18: 37,477,156 (GRCm39) |
L764R |
probably benign |
Het |
Pgap6 |
G |
A |
17: 26,340,538 (GRCm39) |
V641I |
probably benign |
Het |
Sbf2 |
T |
C |
7: 110,040,182 (GRCm39) |
Y378C |
probably damaging |
Het |
Slc23a2 |
C |
T |
2: 131,920,401 (GRCm39) |
S168N |
possibly damaging |
Het |
Tmem260 |
A |
G |
14: 48,733,913 (GRCm39) |
|
probably null |
Het |
Tmprss15 |
T |
G |
16: 78,868,317 (GRCm39) |
L198F |
probably benign |
Het |
Tulp4 |
C |
T |
17: 6,282,146 (GRCm39) |
T725I |
possibly damaging |
Het |
Tut4 |
C |
A |
4: 108,336,646 (GRCm39) |
N123K |
probably benign |
Het |
Urb2 |
G |
T |
8: 124,757,864 (GRCm39) |
E1190D |
probably damaging |
Het |
Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
Zp3 |
A |
G |
5: 136,016,352 (GRCm39) |
D318G |
possibly damaging |
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 |
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 |
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'- AGCCAAGGATCACCAGCACT -3'
(R):5'- GAAGAAGACATCGGCTCCCATTAC -3'
Sequencing Primer
(F):5'- GAGGACAGATTCTCTCTCAGAGC -3'
(R):5'- AGTGCTTTTAACCGCTGAGC -3'
|
Posted On |
2018-06-22 |