Incidental Mutation 'R4949:Gm14295'
| ID |
383652 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm14295
|
| Ensembl Gene |
ENSMUSG00000078877 |
| Gene Name |
predicted gene 14295 |
| Synonyms |
|
| MMRRC Submission |
042546-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
R4949 (G1)
|
| Quality Score |
121 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
176490405-176503016 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 176501469 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Proline
at position 320
(T320P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119262
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118012]
[ENSMUST00000132883]
[ENSMUST00000179435]
|
| AlphaFold |
A2BG91 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118012
|
| SMART Domains |
Protein: ENSMUSP00000113133
Gene: ENSMUSG00000078877
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
4 |
64 |
5.2e-13 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000132883
AA Change: T320P
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000119262
Gene: ENSMUSG00000078877
AA Change: T320P
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
4 |
66 |
6.97e-14 |
SMART |
|
ZnF_C2H2
|
78 |
97 |
1.61e2 |
SMART |
|
ZnF_C2H2
|
103 |
125 |
4.17e-3 |
SMART |
|
ZnF_C2H2
|
131 |
153 |
1.67e-2 |
SMART |
|
ZnF_C2H2
|
159 |
181 |
2.27e-4 |
SMART |
|
ZnF_C2H2
|
187 |
209 |
2.61e-4 |
SMART |
|
ZnF_C2H2
|
215 |
237 |
5.5e-3 |
SMART |
|
ZnF_C2H2
|
243 |
265 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
271 |
293 |
6.32e-3 |
SMART |
|
ZnF_C2H2
|
299 |
321 |
4.17e-3 |
SMART |
|
ZnF_C2H2
|
327 |
349 |
3.21e-4 |
SMART |
|
ZnF_C2H2
|
355 |
377 |
6.88e-4 |
SMART |
|
ZnF_C2H2
|
383 |
405 |
9.22e-5 |
SMART |
|
ZnF_C2H2
|
411 |
433 |
6.88e-4 |
SMART |
|
ZnF_C2H2
|
439 |
461 |
9.22e-5 |
SMART |
|
ZnF_C2H2
|
467 |
489 |
1.67e-2 |
SMART |
|
ZnF_C2H2
|
495 |
517 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
523 |
545 |
1.3e-4 |
SMART |
|
ZnF_C2H2
|
551 |
573 |
1.67e-2 |
SMART |
|
ZnF_C2H2
|
579 |
601 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
607 |
629 |
6.78e-3 |
SMART |
|
ZnF_C2H2
|
635 |
657 |
4.54e-4 |
SMART |
|
ZnF_C2H2
|
663 |
685 |
4.54e-4 |
SMART |
|
ZnF_C2H2
|
691 |
713 |
1.67e-2 |
SMART |
|
ZnF_C2H2
|
719 |
741 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
747 |
769 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
775 |
797 |
4.94e-5 |
SMART |
|
ZnF_C2H2
|
803 |
823 |
8.75e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179435
|
| SMART Domains |
Protein: ENSMUSP00000136320
Gene: ENSMUSG00000078877
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
3 |
63 |
5.2e-13 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox3 |
T |
C |
5: 35,769,450 (GRCm39) |
V692A |
probably benign |
Het |
| Bcl2l13 |
G |
T |
6: 120,864,191 (GRCm39) |
G382W |
probably damaging |
Het |
| Cdhr5 |
T |
A |
7: 140,852,557 (GRCm39) |
N353I |
probably damaging |
Het |
| Chil4 |
A |
G |
3: 106,113,408 (GRCm39) |
S170P |
possibly damaging |
Het |
| Clp1 |
A |
C |
2: 84,554,086 (GRCm39) |
M361R |
possibly damaging |
Het |
| Cylc2 |
A |
G |
4: 51,229,804 (GRCm39) |
K382R |
unknown |
Het |
| Dsg2 |
T |
A |
18: 20,723,241 (GRCm39) |
D422E |
probably damaging |
Het |
| Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
| Ido2 |
T |
G |
8: 25,023,970 (GRCm39) |
|
probably null |
Het |
| Ift140 |
T |
A |
17: 25,313,639 (GRCm39) |
S1357T |
probably benign |
Het |
| Insr |
T |
G |
8: 3,235,059 (GRCm39) |
E145A |
probably benign |
Het |
| Itpripl1 |
A |
G |
2: 126,983,327 (GRCm39) |
M265T |
probably benign |
Het |
| Kcnb1 |
G |
T |
2: 166,947,521 (GRCm39) |
N442K |
probably damaging |
Het |
| Kifc5b |
C |
A |
17: 27,144,488 (GRCm39) |
R536S |
probably damaging |
Het |
| Klf6 |
A |
T |
13: 5,914,947 (GRCm39) |
S129C |
probably benign |
Het |
| Lpin2 |
C |
G |
17: 71,538,334 (GRCm39) |
P327A |
probably damaging |
Het |
| Lsm1 |
T |
C |
8: 26,292,065 (GRCm39) |
V114A |
probably benign |
Het |
| Map7d1 |
C |
T |
4: 126,128,846 (GRCm39) |
W218* |
probably null |
Het |
| N4bp2 |
T |
A |
5: 65,979,142 (GRCm39) |
|
probably null |
Het |
| Nt5el |
T |
A |
13: 105,246,214 (GRCm39) |
S258R |
probably damaging |
Het |
| Rheb |
A |
T |
5: 25,008,729 (GRCm39) |
I163K |
possibly damaging |
Het |
| Rph3a |
T |
C |
5: 121,101,897 (GRCm39) |
D113G |
probably damaging |
Het |
| Scn8a |
A |
G |
15: 100,927,663 (GRCm39) |
N1381D |
probably damaging |
Het |
| Sdsl |
T |
A |
5: 120,597,870 (GRCm39) |
N208Y |
possibly damaging |
Het |
| Serpinb9e |
A |
G |
13: 33,435,591 (GRCm39) |
N8S |
possibly damaging |
Het |
| Sox18 |
G |
A |
2: 181,313,017 (GRCm39) |
Q100* |
probably null |
Het |
| Taar8b |
C |
T |
10: 23,967,825 (GRCm39) |
C123Y |
probably damaging |
Het |
| Tas2r124 |
A |
G |
6: 132,731,858 (GRCm39) |
I56V |
possibly damaging |
Het |
| Tes |
C |
A |
6: 17,100,359 (GRCm39) |
H331N |
probably benign |
Het |
| Tmbim1 |
T |
G |
1: 74,334,524 (GRCm39) |
D12A |
probably damaging |
Het |
| Tmprss4 |
T |
C |
9: 45,086,841 (GRCm39) |
I307V |
possibly damaging |
Het |
| Ttll1 |
A |
T |
15: 83,386,374 (GRCm39) |
M77K |
probably null |
Het |
| Ttpal |
G |
A |
2: 163,455,671 (GRCm39) |
R220Q |
probably damaging |
Het |
| Vmn1r230 |
T |
A |
17: 21,067,625 (GRCm39) |
H271Q |
probably benign |
Het |
| Vmn2r32 |
A |
G |
7: 7,467,083 (GRCm39) |
I815T |
probably benign |
Het |
|
| Other mutations in Gm14295 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1623:Gm14295
|
UTSW |
2 |
176,499,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2061:Gm14295
|
UTSW |
2 |
176,502,474 (GRCm39) |
nonsense |
probably null |
|
|
R2172:Gm14295
|
UTSW |
2 |
176,502,895 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R2411:Gm14295
|
UTSW |
2 |
176,499,206 (GRCm39) |
missense |
probably benign |
0.29 |
|
R4472:Gm14295
|
UTSW |
2 |
176,501,386 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5082:Gm14295
|
UTSW |
2 |
176,499,210 (GRCm39) |
nonsense |
probably null |
|
|
R5311:Gm14295
|
UTSW |
2 |
176,502,465 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5792:Gm14295
|
UTSW |
2 |
176,502,807 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6170:Gm14295
|
UTSW |
2 |
176,502,937 (GRCm39) |
unclassified |
probably benign |
|
|
R6267:Gm14295
|
UTSW |
2 |
176,500,782 (GRCm39) |
nonsense |
probably null |
|
|
R6286:Gm14295
|
UTSW |
2 |
176,501,361 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6743:Gm14295
|
UTSW |
2 |
176,502,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7456:Gm14295
|
UTSW |
2 |
176,500,943 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7536:Gm14295
|
UTSW |
2 |
176,502,722 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R8049:Gm14295
|
UTSW |
2 |
176,500,871 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8126:Gm14295
|
UTSW |
2 |
176,502,658 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8209:Gm14295
|
UTSW |
2 |
176,502,970 (GRCm39) |
missense |
unknown |
|
|
R8292:Gm14295
|
UTSW |
2 |
176,501,351 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8356:Gm14295
|
UTSW |
2 |
176,501,307 (GRCm39) |
missense |
probably benign |
0.24 |
|
R8412:Gm14295
|
UTSW |
2 |
176,501,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8993:Gm14295
|
UTSW |
2 |
176,501,623 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R9459:Gm14295
|
UTSW |
2 |
176,499,165 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9562:Gm14295
|
UTSW |
2 |
176,499,162 (GRCm39) |
missense |
probably benign |
0.34 |
|
R9565:Gm14295
|
UTSW |
2 |
176,499,162 (GRCm39) |
missense |
probably benign |
0.34 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACATGAGCGAACACATACAGGAG -3'
(R):5'- GTTCGCTTATGTATTCGGAGATGA -3'
Sequencing Primer
(F):5'- CAATGTGGTAAAGCCTTTGCAG -3'
(R):5'- GGAGGTCACCACTTCTTGCAAAG -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation