Incidental Mutation 'R8150:Gm6871'
| ID |
632906 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm6871
|
| Ensembl Gene |
ENSMUSG00000090744 |
| Gene Name |
predicted gene 6871 |
| Synonyms |
|
| MMRRC Submission |
067576-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.119)
|
| Stock # |
R8150 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
41193704-41210253 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 41197185 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 7
(T7A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131240
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073410]
[ENSMUST00000110214]
[ENSMUST00000164677]
|
| AlphaFold |
L7N248 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000073410
AA Change: D49G
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000073117
Gene: ENSMUSG00000090744
AA Change: D49G
| 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: D156G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000105843
Gene: ENSMUSG00000090744
AA Change: D156G
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000131240
Gene: ENSMUSG00000090744
AA Change: T7A
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
21 |
67 |
6.62e-7 |
PROSPERO |
|
internal_repeat_1
|
105 |
151 |
6.62e-7 |
PROSPERO |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.5%
- 10x: 98.5%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
T |
A |
2: 19,538,635 (GRCm39) |
M129L |
probably benign |
Het |
| Aadacl2fm1 |
A |
G |
3: 59,843,558 (GRCm39) |
D84G |
probably damaging |
Het |
| Abca2 |
T |
C |
2: 25,337,393 (GRCm39) |
I2416T |
probably damaging |
Het |
| Abca3 |
A |
G |
17: 24,615,522 (GRCm39) |
D871G |
probably benign |
Het |
| Akap9 |
C |
T |
5: 4,011,982 (GRCm39) |
T895I |
probably damaging |
Het |
| Aldh8a1 |
A |
G |
10: 21,271,444 (GRCm39) |
E390G |
probably damaging |
Het |
| Ank2 |
T |
A |
3: 126,741,162 (GRCm39) |
D1574V |
|
Het |
| Blmh |
T |
C |
11: 76,859,455 (GRCm39) |
V352A |
probably benign |
Het |
| Cacna1i |
T |
C |
15: 80,259,540 (GRCm39) |
L1270P |
probably damaging |
Het |
| Ccdc80 |
T |
A |
16: 44,947,792 (GRCm39) |
H923Q |
probably damaging |
Het |
| Cdc27 |
G |
A |
11: 104,406,286 (GRCm39) |
H610Y |
probably damaging |
Het |
| Cep126 |
T |
C |
9: 8,101,791 (GRCm39) |
I248V |
probably benign |
Het |
| Ces5a |
T |
C |
8: 94,257,430 (GRCm39) |
N125S |
probably damaging |
Het |
| Chd3 |
G |
A |
11: 69,254,510 (GRCm39) |
H201Y |
probably benign |
Het |
| Cpeb1 |
T |
C |
7: 81,007,152 (GRCm39) |
T292A |
probably damaging |
Het |
| Gli2 |
G |
A |
1: 118,763,558 (GRCm39) |
T1531I |
probably damaging |
Het |
| Kank1 |
A |
G |
19: 25,388,163 (GRCm39) |
D612G |
possibly damaging |
Het |
| Lhcgr |
AT |
ATT |
17: 89,049,677 (GRCm39) |
615 |
probably null |
Het |
| Mfsd6 |
T |
A |
1: 52,747,800 (GRCm39) |
D355V |
probably benign |
Het |
| Myo7a |
T |
C |
7: 97,712,846 (GRCm39) |
K1710E |
probably benign |
Het |
| Or13d1 |
C |
G |
4: 52,970,788 (GRCm39) |
H56D |
probably damaging |
Het |
| Or52ae7 |
A |
G |
7: 103,119,459 (GRCm39) |
D71G |
probably damaging |
Het |
| Pcdha8 |
G |
A |
18: 37,126,264 (GRCm39) |
V249M |
probably damaging |
Het |
| Pglyrp3 |
A |
G |
3: 91,933,790 (GRCm39) |
D145G |
probably benign |
Het |
| Pkhd1l1 |
A |
G |
15: 44,410,055 (GRCm39) |
K2521E |
possibly damaging |
Het |
| Pld3 |
A |
G |
7: 27,232,086 (GRCm39) |
V398A |
probably damaging |
Het |
| Plxnb1 |
A |
T |
9: 108,941,146 (GRCm39) |
T1642S |
probably damaging |
Het |
| Ppp2r1a |
T |
G |
17: 21,179,700 (GRCm39) |
V348G |
possibly damaging |
Het |
| Prdm2 |
C |
A |
4: 142,859,303 (GRCm39) |
C1329F |
possibly damaging |
Het |
| Ric8a |
G |
T |
7: 140,441,269 (GRCm39) |
G423V |
probably damaging |
Het |
| Rnf17 |
A |
G |
14: 56,658,593 (GRCm39) |
D94G |
probably benign |
Het |
| Serpina3f |
T |
C |
12: 104,185,769 (GRCm39) |
F325L |
probably damaging |
Het |
| Sin3a |
T |
A |
9: 57,034,568 (GRCm39) |
V1247E |
possibly damaging |
Het |
| Skint5 |
C |
A |
4: 113,798,087 (GRCm39) |
M165I |
probably benign |
Het |
| Slc19a3 |
T |
G |
1: 83,000,216 (GRCm39) |
Y267S |
probably damaging |
Het |
| Slc22a27 |
A |
T |
19: 7,887,390 (GRCm39) |
F196Y |
possibly damaging |
Het |
| Slc5a4b |
A |
T |
10: 75,939,680 (GRCm39) |
I152N |
possibly damaging |
Het |
| Tbc1d9 |
T |
A |
8: 83,982,519 (GRCm39) |
V768E |
probably damaging |
Het |
| Tex15 |
T |
A |
8: 34,063,534 (GRCm39) |
M988K |
probably benign |
Het |
| Top2b |
T |
A |
14: 16,393,291 (GRCm38) |
F317I |
probably damaging |
Het |
| Wfdc8 |
A |
T |
2: 164,439,455 (GRCm39) |
L309* |
probably null |
Het |
| Wipf1 |
G |
A |
2: 73,267,879 (GRCm39) |
P173L |
possibly damaging |
Het |
| Zfp217 |
G |
A |
2: 169,961,571 (GRCm39) |
S252F |
possibly damaging |
Het |
| Zfp949 |
C |
T |
9: 88,452,053 (GRCm39) |
T541I |
probably benign |
Het |
| Zkscan16 |
T |
A |
4: 58,952,407 (GRCm39) |
I235N |
probably benign |
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 |
|
R3967:Gm6871
|
UTSW |
7 |
41,196,148 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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'- CTCAAAGTCGGGACTACCACA -3'
(R):5'- TACAGGAATCTCACCACTATAGGTA -3'
Sequencing Primer
(F):5'- ACGGTCATACGGCCTGTATC -3'
(R):5'- CCTCTGAGTTTTAAAATAAGGGGGC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation