Incidental Mutation 'R1005:Gm6871'
| ID |
95627 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm6871
|
| Ensembl Gene |
ENSMUSG00000090744 |
| Gene Name |
predicted gene 6871 |
| Synonyms |
|
| MMRRC Submission |
039115-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.119)
|
| Stock # |
R1005 (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 41195682 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 352
(C352S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105843
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073410]
[ENSMUST00000110214]
[ENSMUST00000164677]
|
| AlphaFold |
L7N248 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073410
AA Change: C245S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000073117
Gene: ENSMUSG00000090744
AA Change: C245S
| 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: C352S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105843
Gene: ENSMUSG00000090744
AA Change: C352S
| 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 |
probably benign
Transcript: ENSMUST00000164677
|
| SMART Domains |
Protein: ENSMUSP00000131240
Gene: ENSMUSG00000090744
| 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 |
0.2415 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 90.5%
|
| Validation Efficiency |
100% (41/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam18 |
T |
C |
8: 25,155,530 (GRCm39) |
D163G |
probably benign |
Het |
| Adck1 |
G |
A |
12: 88,368,872 (GRCm39) |
V117M |
probably damaging |
Het |
| Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
| Anpep |
C |
T |
7: 79,488,004 (GRCm39) |
E518K |
probably benign |
Het |
| Anxa6 |
A |
T |
11: 54,892,044 (GRCm39) |
M304K |
possibly damaging |
Het |
| Aox1 |
A |
G |
1: 58,104,511 (GRCm39) |
T563A |
probably benign |
Het |
| AW551984 |
G |
A |
9: 39,505,029 (GRCm39) |
Q488* |
probably null |
Het |
| Cbx2 |
A |
G |
11: 118,919,400 (GRCm39) |
R322G |
probably benign |
Het |
| Csmd1 |
T |
A |
8: 16,338,707 (GRCm39) |
T467S |
probably damaging |
Het |
| Cspg4 |
A |
G |
9: 56,796,020 (GRCm39) |
I1252V |
probably benign |
Het |
| Enah |
A |
T |
1: 181,789,495 (GRCm39) |
|
probably benign |
Het |
| Fam171a2 |
T |
C |
11: 102,331,007 (GRCm39) |
M185V |
probably benign |
Het |
| Flt1 |
G |
T |
5: 147,618,695 (GRCm39) |
N213K |
probably damaging |
Het |
| Fpr-rs3 |
T |
C |
17: 20,844,346 (GRCm39) |
N265S |
probably benign |
Het |
| Gbp2 |
T |
C |
3: 142,336,262 (GRCm39) |
|
probably benign |
Het |
| Gm9742 |
T |
C |
13: 8,085,251 (GRCm39) |
|
noncoding transcript |
Het |
| Iars1 |
T |
C |
13: 49,840,921 (GRCm39) |
I18T |
possibly damaging |
Het |
| Kel |
T |
C |
6: 41,665,551 (GRCm39) |
Y523C |
probably damaging |
Het |
| Klk1b8 |
T |
A |
7: 43,603,758 (GRCm39) |
C198* |
probably null |
Het |
| Mc3r |
A |
G |
2: 172,091,483 (GRCm39) |
H235R |
probably benign |
Het |
| Nr0b2 |
G |
T |
4: 133,280,785 (GRCm39) |
R17L |
probably benign |
Het |
| Or1a1b |
A |
G |
11: 74,097,962 (GRCm39) |
F27L |
probably benign |
Het |
| Prl7a1 |
G |
A |
13: 27,826,429 (GRCm39) |
P2L |
possibly damaging |
Het |
| Prrt3 |
G |
A |
6: 113,471,739 (GRCm39) |
A811V |
probably damaging |
Het |
| Rab28 |
A |
G |
5: 41,855,726 (GRCm39) |
|
probably benign |
Het |
| Rhobtb2 |
A |
G |
14: 70,035,726 (GRCm39) |
L115P |
probably damaging |
Het |
| Robo4 |
A |
G |
9: 37,319,547 (GRCm39) |
E599G |
probably damaging |
Het |
| Ros1 |
T |
A |
10: 52,004,501 (GRCm39) |
|
probably benign |
Het |
| Slc22a27 |
A |
T |
19: 7,904,116 (GRCm39) |
L7Q |
probably damaging |
Het |
| Slfn5 |
T |
A |
11: 82,850,984 (GRCm39) |
L427H |
probably damaging |
Het |
| Smarcad1 |
C |
T |
6: 65,085,711 (GRCm39) |
H890Y |
probably benign |
Het |
| Snx31 |
A |
G |
15: 36,517,837 (GRCm39) |
|
probably benign |
Het |
| Sptb |
C |
T |
12: 76,648,633 (GRCm39) |
|
probably null |
Het |
| Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
| Ston2 |
T |
C |
12: 91,615,622 (GRCm39) |
D262G |
possibly damaging |
Het |
| Trank1 |
T |
G |
9: 111,162,789 (GRCm39) |
M16R |
probably benign |
Het |
| Trrap |
A |
G |
5: 144,742,537 (GRCm39) |
E1385G |
probably damaging |
Het |
| Ttc8 |
T |
C |
12: 98,903,403 (GRCm39) |
S47P |
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 |
|
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 |
|
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'- GGTACTGGAGAGTACTGTGATGTGCAAA -3'
(R):5'- GTCATGCAGGAGAGAAACACTGTGAA -3'
Sequencing Primer
(F):5'- tgactgtgagatacaaatgatttacc -3'
(R):5'- acagatactggaaagaaaccctac -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation