Incidental Mutation 'R2865:Gm7168'
| ID |
253190 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm7168
|
| Ensembl Gene |
ENSMUSG00000067941 |
| Gene Name |
predicted gene 7168 |
| Synonyms |
|
| MMRRC Submission |
040454-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R2865 (G1)
|
| Quality Score |
200 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
14168635-14170940 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 14170117 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 495
(K495E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000094997
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088809]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000088809
AA Change: K495E
PolyPhen 2
Score 0.422 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000094997
Gene: ENSMUSG00000067941
AA Change: K495E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
20 |
N/A |
INTRINSIC |
|
S_TKc
|
28 |
276 |
5.25e-91 |
SMART |
|
UBA
|
296 |
333 |
4.39e-2 |
SMART |
|
low complexity region
|
436 |
451 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
100% (30/30) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A230072I06Rik |
A |
G |
8: 12,329,635 (GRCm39) |
Q30R |
unknown |
Het |
| Bmper |
A |
G |
9: 23,395,237 (GRCm39) |
N656S |
probably benign |
Het |
| Cic |
T |
A |
7: 24,972,646 (GRCm39) |
D792E |
probably damaging |
Het |
| Dab1 |
G |
A |
4: 104,537,343 (GRCm39) |
C192Y |
probably benign |
Het |
| Ddx6 |
G |
T |
9: 44,525,553 (GRCm39) |
L103F |
probably damaging |
Het |
| Fhod1 |
T |
C |
8: 106,059,543 (GRCm39) |
K714R |
probably null |
Het |
| Flt1 |
T |
C |
5: 147,531,431 (GRCm39) |
Q844R |
possibly damaging |
Het |
| Fnip1 |
T |
C |
11: 54,393,250 (GRCm39) |
I562T |
probably damaging |
Het |
| Fxr2 |
T |
A |
11: 69,530,253 (GRCm39) |
I40N |
probably damaging |
Het |
| Gria2 |
C |
T |
3: 80,639,392 (GRCm39) |
V207I |
probably benign |
Het |
| Ifna6 |
G |
C |
4: 88,746,099 (GRCm39) |
R149S |
probably benign |
Het |
| Ifna6 |
C |
A |
4: 88,746,086 (GRCm39) |
T145K |
probably benign |
Het |
| Igf2r |
T |
C |
17: 12,905,611 (GRCm39) |
H2240R |
probably damaging |
Het |
| Ighv8-9 |
G |
A |
12: 115,432,066 (GRCm39) |
P82S |
probably benign |
Het |
| Itpr3 |
T |
C |
17: 27,310,525 (GRCm39) |
V436A |
probably benign |
Het |
| Ldb3 |
T |
G |
14: 34,251,460 (GRCm39) |
D609A |
probably damaging |
Het |
| Lgalsl2 |
G |
T |
7: 5,362,668 (GRCm39) |
D100Y |
probably benign |
Het |
| Luc7l |
C |
A |
17: 26,485,335 (GRCm39) |
Q112K |
probably damaging |
Het |
| Marchf4 |
C |
T |
1: 72,491,734 (GRCm39) |
R179H |
probably damaging |
Het |
| Myt1l |
A |
G |
12: 29,960,788 (GRCm39) |
T75A |
probably benign |
Het |
| Or5t9 |
A |
T |
2: 86,659,198 (GRCm39) |
D34V |
probably benign |
Het |
| Or8h10 |
A |
T |
2: 86,808,805 (GRCm39) |
C112S |
possibly damaging |
Het |
| Parp4 |
C |
T |
14: 56,851,181 (GRCm39) |
T728M |
probably damaging |
Het |
| Ppp1r10 |
A |
G |
17: 36,239,384 (GRCm39) |
T398A |
possibly damaging |
Het |
| Ppp4c |
A |
T |
7: 126,391,272 (GRCm39) |
I20N |
probably damaging |
Het |
| Rph3a |
C |
T |
5: 121,085,990 (GRCm39) |
G482D |
probably damaging |
Het |
| Rtel1 |
T |
A |
2: 180,991,765 (GRCm39) |
F388I |
probably benign |
Het |
| Slc12a6 |
G |
A |
2: 112,177,662 (GRCm39) |
V594I |
probably benign |
Het |
| Slc2a4 |
G |
A |
11: 69,836,942 (GRCm39) |
S134F |
probably damaging |
Het |
| Tead4 |
A |
T |
6: 128,225,062 (GRCm39) |
|
probably null |
Het |
| Usp40 |
G |
A |
1: 87,877,701 (GRCm39) |
Q1152* |
probably null |
Het |
|
| Other mutations in Gm7168 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01298:Gm7168
|
APN |
17 |
14,170,120 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01392:Gm7168
|
APN |
17 |
14,169,169 (GRCm39) |
missense |
probably benign |
|
|
IGL01577:Gm7168
|
APN |
17 |
14,169,649 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01691:Gm7168
|
APN |
17 |
14,169,140 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0064:Gm7168
|
UTSW |
17 |
14,170,121 (GRCm39) |
missense |
probably benign |
0.21 |
|
R0611:Gm7168
|
UTSW |
17 |
14,169,797 (GRCm39) |
missense |
probably benign |
|
|
R0737:Gm7168
|
UTSW |
17 |
14,169,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1789:Gm7168
|
UTSW |
17 |
14,169,846 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2864:Gm7168
|
UTSW |
17 |
14,170,117 (GRCm39) |
missense |
probably benign |
0.42 |
|
R4179:Gm7168
|
UTSW |
17 |
14,169,265 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4652:Gm7168
|
UTSW |
17 |
14,170,069 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5174:Gm7168
|
UTSW |
17 |
14,168,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5722:Gm7168
|
UTSW |
17 |
14,169,824 (GRCm39) |
missense |
probably benign |
|
|
R6180:Gm7168
|
UTSW |
17 |
14,168,858 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7195:Gm7168
|
UTSW |
17 |
14,169,622 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7366:Gm7168
|
UTSW |
17 |
14,170,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7490:Gm7168
|
UTSW |
17 |
14,169,275 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7748:Gm7168
|
UTSW |
17 |
14,168,914 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8113:Gm7168
|
UTSW |
17 |
14,169,238 (GRCm39) |
nonsense |
probably null |
|
|
R8201:Gm7168
|
UTSW |
17 |
14,170,042 (GRCm39) |
missense |
probably benign |
|
|
R9197:Gm7168
|
UTSW |
17 |
14,169,489 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9260:Gm7168
|
UTSW |
17 |
14,169,488 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9520:Gm7168
|
UTSW |
17 |
14,169,506 (GRCm39) |
missense |
probably benign |
|
|
X0020:Gm7168
|
UTSW |
17 |
14,169,998 (GRCm39) |
missense |
probably benign |
0.04 |
|
Z1177:Gm7168
|
UTSW |
17 |
14,170,019 (GRCm39) |
missense |
probably benign |
0.22 |
|
Z1177:Gm7168
|
UTSW |
17 |
14,169,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Gm7168
|
UTSW |
17 |
14,169,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATACGTGCCATGAGTGTCCC -3'
(R):5'- GGGTTCAGCAAGACAACTGTG -3'
Sequencing Primer
(F):5'- ATGAGTGTCCCCTGCATGC -3'
(R):5'- ATTCATATTGAGACCCTGCTGG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation