Incidental Mutation 'R3967:Gm6871'
ID |
312391 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm6871
|
Ensembl Gene |
ENSMUSG00000090744 |
Gene Name |
predicted gene 6871 |
Synonyms |
|
MMRRC Submission |
040838-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.119)
|
Stock # |
R3967 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
41193704-41210253 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 41196148 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 196
(H196Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105843
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073410]
[ENSMUST00000110214]
[ENSMUST00000164677]
|
AlphaFold |
L7N248 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000073410
AA Change: H89Q
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000073117 Gene: ENSMUSG00000090744 AA Change: H89Q
Domain | Start | End | E-Value | Type |
KRAB
|
4 |
64 |
1.19e-16 |
SMART |
ZnF_C2H2
|
131 |
153 |
3.44e-4 |
SMART |
ZnF_C2H2
|
159 |
181 |
5.99e-4 |
SMART |
ZnF_C2H2
|
187 |
209 |
3.34e-2 |
SMART |
ZnF_C2H2
|
215 |
237 |
5.99e-4 |
SMART |
ZnF_C2H2
|
243 |
265 |
1.28e-3 |
SMART |
ZnF_C2H2
|
271 |
293 |
3.69e-4 |
SMART |
ZnF_C2H2
|
299 |
321 |
1.36e-2 |
SMART |
ZnF_C2H2
|
327 |
349 |
3.21e-4 |
SMART |
ZnF_C2H2
|
355 |
377 |
2.61e-4 |
SMART |
ZnF_C2H2
|
383 |
405 |
3.16e-3 |
SMART |
ZnF_C2H2
|
411 |
433 |
5.14e-3 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000110214
AA Change: H196Q
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000105843 Gene: ENSMUSG00000090744 AA Change: H196Q
Domain | Start | End | E-Value | Type |
KRAB
|
111 |
171 |
1.19e-16 |
SMART |
ZnF_C2H2
|
238 |
260 |
3.44e-4 |
SMART |
ZnF_C2H2
|
266 |
288 |
5.99e-4 |
SMART |
ZnF_C2H2
|
294 |
316 |
3.34e-2 |
SMART |
ZnF_C2H2
|
322 |
344 |
5.99e-4 |
SMART |
ZnF_C2H2
|
350 |
372 |
1.28e-3 |
SMART |
ZnF_C2H2
|
378 |
400 |
3.69e-4 |
SMART |
ZnF_C2H2
|
406 |
428 |
1.36e-2 |
SMART |
ZnF_C2H2
|
434 |
456 |
3.21e-4 |
SMART |
ZnF_C2H2
|
462 |
484 |
2.61e-4 |
SMART |
ZnF_C2H2
|
490 |
512 |
3.16e-3 |
SMART |
ZnF_C2H2
|
518 |
540 |
5.14e-3 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164677
AA Change: I47N
PolyPhen 2
Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000131240 Gene: ENSMUSG00000090744 AA Change: I47N
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
21 |
67 |
6.62e-7 |
PROSPERO |
internal_repeat_1
|
105 |
151 |
6.62e-7 |
PROSPERO |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.2%
|
Validation Efficiency |
100% (44/44) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700018B08Rik |
G |
T |
8: 122,266,719 (GRCm39) |
Q56K |
possibly damaging |
Het |
Adam18 |
C |
A |
8: 25,119,726 (GRCm39) |
V518L |
probably benign |
Het |
Akap6 |
A |
T |
12: 53,188,236 (GRCm39) |
K1883N |
probably damaging |
Het |
Arhgef12 |
C |
A |
9: 42,916,847 (GRCm39) |
R432L |
probably damaging |
Het |
Armcx6 |
G |
T |
X: 133,650,505 (GRCm39) |
H109N |
possibly damaging |
Het |
Ctnnd2 |
C |
A |
15: 30,647,075 (GRCm39) |
A257E |
possibly damaging |
Het |
Depdc5 |
T |
A |
5: 33,101,459 (GRCm39) |
C322* |
probably null |
Het |
Enpp7 |
T |
C |
11: 118,881,827 (GRCm39) |
I324T |
probably damaging |
Het |
Gm14401 |
T |
C |
2: 176,778,789 (GRCm39) |
Y292H |
possibly damaging |
Het |
Gm9964 |
T |
C |
11: 79,187,202 (GRCm39) |
T82A |
unknown |
Het |
Gria2 |
T |
A |
3: 80,618,084 (GRCm39) |
Q317L |
possibly damaging |
Het |
Grtp1 |
G |
A |
8: 13,239,705 (GRCm39) |
T134I |
probably benign |
Het |
Itpkb |
A |
T |
1: 180,155,363 (GRCm39) |
|
probably benign |
Het |
Kbtbd12 |
A |
G |
6: 88,595,488 (GRCm39) |
V114A |
probably benign |
Het |
Lama3 |
A |
T |
18: 12,713,398 (GRCm39) |
K3230M |
probably damaging |
Het |
Ly75 |
T |
C |
2: 60,158,217 (GRCm39) |
I1023V |
possibly damaging |
Het |
Myof |
C |
T |
19: 37,889,711 (GRCm39) |
V1287M |
probably damaging |
Het |
Myof |
T |
G |
19: 38,011,058 (GRCm39) |
D60A |
possibly damaging |
Het |
Narf |
A |
T |
11: 121,129,247 (GRCm39) |
E10D |
possibly damaging |
Het |
Nlrx1 |
A |
T |
9: 44,166,722 (GRCm39) |
|
probably benign |
Het |
Or10a3m |
A |
G |
7: 108,313,060 (GRCm39) |
M155V |
probably benign |
Het |
Or8b54 |
A |
G |
9: 38,686,664 (GRCm39) |
T38A |
probably benign |
Het |
Pabpc5 |
A |
G |
X: 118,838,321 (GRCm39) |
E212G |
probably benign |
Het |
Pidd1 |
A |
G |
7: 141,018,995 (GRCm39) |
F829L |
possibly damaging |
Het |
Pik3r2 |
G |
A |
8: 71,223,065 (GRCm39) |
R452C |
probably benign |
Het |
Pkn2 |
A |
G |
3: 142,515,438 (GRCm39) |
C658R |
probably damaging |
Het |
Psd |
C |
T |
19: 46,312,845 (GRCm39) |
R175H |
probably benign |
Het |
Rab39 |
G |
A |
9: 53,597,932 (GRCm39) |
A111V |
possibly damaging |
Het |
Rb1cc1 |
T |
A |
1: 6,318,494 (GRCm39) |
|
probably benign |
Het |
Rnf39 |
C |
A |
17: 37,254,035 (GRCm39) |
T19K |
probably damaging |
Het |
Slc16a3 |
C |
T |
11: 120,846,251 (GRCm39) |
T60M |
possibly damaging |
Het |
Slc26a4 |
G |
T |
12: 31,578,686 (GRCm39) |
H656N |
probably damaging |
Het |
Slc27a1 |
A |
G |
8: 72,032,431 (GRCm39) |
E184G |
probably damaging |
Het |
Smc6 |
T |
C |
12: 11,348,327 (GRCm39) |
V742A |
probably benign |
Het |
Thoc1 |
T |
A |
18: 9,968,787 (GRCm39) |
V186D |
probably damaging |
Het |
Uhrf2 |
T |
C |
19: 30,057,315 (GRCm39) |
V491A |
probably damaging |
Het |
Uri1 |
A |
G |
7: 37,664,927 (GRCm39) |
V253A |
possibly damaging |
Het |
Vmn2r83 |
T |
A |
10: 79,327,154 (GRCm39) |
N587K |
probably benign |
Het |
Vmn2r88 |
A |
T |
14: 51,650,647 (GRCm39) |
Y120F |
probably benign |
Het |
Wwox |
G |
A |
8: 115,215,673 (GRCm39) |
A149T |
probably damaging |
Het |
Zfp536 |
T |
C |
7: 37,173,255 (GRCm39) |
*282W |
probably null |
Het |
|
Other mutations in Gm6871 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00586:Gm6871
|
APN |
7 |
41,195,845 (GRCm39) |
missense |
possibly damaging |
0.67 |
R1005_Gm6871_627
|
UTSW |
7 |
41,195,682 (GRCm39) |
missense |
probably damaging |
1.00 |
R0419:Gm6871
|
UTSW |
7 |
41,222,869 (GRCm39) |
missense |
probably benign |
0.00 |
R1005:Gm6871
|
UTSW |
7 |
41,195,682 (GRCm39) |
missense |
probably damaging |
1.00 |
R1544:Gm6871
|
UTSW |
7 |
41,195,514 (GRCm39) |
splice site |
probably null |
|
R1553:Gm6871
|
UTSW |
7 |
41,195,822 (GRCm39) |
missense |
probably benign |
0.00 |
R1674:Gm6871
|
UTSW |
7 |
41,223,059 (GRCm39) |
missense |
possibly damaging |
0.46 |
R1710:Gm6871
|
UTSW |
7 |
41,195,901 (GRCm39) |
missense |
probably damaging |
1.00 |
R1743:Gm6871
|
UTSW |
7 |
41,195,876 (GRCm39) |
missense |
probably damaging |
0.98 |
R1777:Gm6871
|
UTSW |
7 |
41,195,143 (GRCm39) |
missense |
probably benign |
0.23 |
R1844:Gm6871
|
UTSW |
7 |
41,222,892 (GRCm39) |
missense |
probably benign |
0.03 |
R2508:Gm6871
|
UTSW |
7 |
41,197,414 (GRCm39) |
missense |
probably benign |
0.11 |
R2966:Gm6871
|
UTSW |
7 |
41,222,864 (GRCm39) |
missense |
probably benign |
0.07 |
R3155:Gm6871
|
UTSW |
7 |
41,223,079 (GRCm39) |
missense |
probably benign |
0.03 |
R3156:Gm6871
|
UTSW |
7 |
41,223,079 (GRCm39) |
missense |
probably benign |
0.03 |
R4156:Gm6871
|
UTSW |
7 |
41,195,510 (GRCm39) |
missense |
probably damaging |
0.96 |
R4238:Gm6871
|
UTSW |
7 |
41,195,204 (GRCm39) |
missense |
probably damaging |
1.00 |
R4239:Gm6871
|
UTSW |
7 |
41,195,204 (GRCm39) |
missense |
probably damaging |
1.00 |
R4240:Gm6871
|
UTSW |
7 |
41,195,204 (GRCm39) |
missense |
probably damaging |
1.00 |
R4731:Gm6871
|
UTSW |
7 |
41,196,173 (GRCm39) |
missense |
probably benign |
0.01 |
R4732:Gm6871
|
UTSW |
7 |
41,196,173 (GRCm39) |
missense |
probably benign |
0.01 |
R4733:Gm6871
|
UTSW |
7 |
41,196,173 (GRCm39) |
missense |
probably benign |
0.01 |
R4910:Gm6871
|
UTSW |
7 |
41,223,016 (GRCm39) |
missense |
probably benign |
0.03 |
R5269:Gm6871
|
UTSW |
7 |
41,197,525 (GRCm39) |
missense |
probably damaging |
0.99 |
R5371:Gm6871
|
UTSW |
7 |
41,222,992 (GRCm39) |
missense |
probably benign |
0.07 |
R6222:Gm6871
|
UTSW |
7 |
41,196,006 (GRCm39) |
missense |
probably damaging |
0.99 |
R6975:Gm6871
|
UTSW |
7 |
41,196,202 (GRCm39) |
synonymous |
silent |
|
R8006:Gm6871
|
UTSW |
7 |
41,195,106 (GRCm39) |
missense |
probably benign |
0.10 |
R8150:Gm6871
|
UTSW |
7 |
41,197,185 (GRCm39) |
missense |
|
|
R9019:Gm6871
|
UTSW |
7 |
41,195,262 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Gm6871
|
UTSW |
7 |
41,195,837 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Predicted Primers |
PCR Primer
(F):5'- GACCACAGTAAAGTGATGTGCA -3'
(R):5'- AATGATGCGAAACAAGCCACAATG -3'
Sequencing Primer
(F):5'- GTGATGTGCAAAGGCTTTACCAC -3'
(R):5'- CACCAAGACTGTGAACAATGTG -3'
|
Posted On |
2015-04-29 |