Incidental Mutation 'IGL00586:Gm6871'
| ID |
332715 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gm6871
|
| Ensembl Gene |
ENSMUSG00000090744 |
| Gene Name |
predicted gene 6871 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.119)
|
| Stock # |
IGL00586
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
41193704-41210253 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 41195845 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 297
(D297E)
|
| 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: D190E
PolyPhen 2
Score 0.169 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000073117
Gene: ENSMUSG00000090744
AA Change: D190E
| 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 |
possibly damaging
Transcript: ENSMUST00000110214
AA Change: D297E
PolyPhen 2
Score 0.668 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000105843
Gene: ENSMUSG00000090744
AA Change: D297E
| 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
AA Change: I148N
PolyPhen 2
Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000131240
Gene: ENSMUSG00000090744
AA Change: I148N
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arl5b |
T |
C |
2: 15,074,746 (GRCm39) |
S76P |
probably benign |
Het |
| Asap3 |
A |
C |
4: 135,933,879 (GRCm39) |
D17A |
probably damaging |
Het |
| Ccdc24 |
C |
T |
4: 117,729,243 (GRCm39) |
R78H |
probably damaging |
Het |
| Crp |
T |
C |
1: 172,526,568 (GRCm39) |
F218L |
probably benign |
Het |
| Dab2 |
T |
C |
15: 6,459,306 (GRCm39) |
L385P |
probably benign |
Het |
| Dip2c |
C |
A |
13: 9,660,791 (GRCm39) |
T855N |
probably damaging |
Het |
| Dnai7 |
A |
T |
6: 145,137,302 (GRCm39) |
F269I |
possibly damaging |
Het |
| Dync2i1 |
A |
T |
12: 116,205,400 (GRCm39) |
D396E |
probably benign |
Het |
| Ep400 |
A |
G |
5: 110,887,460 (GRCm39) |
V541A |
probably damaging |
Het |
| Gbgt1 |
A |
T |
2: 28,392,207 (GRCm39) |
|
probably null |
Het |
| Gpr107 |
T |
A |
2: 31,062,006 (GRCm39) |
F145I |
probably benign |
Het |
| Itgb6 |
T |
G |
2: 60,450,696 (GRCm39) |
D581A |
probably benign |
Het |
| Lce1a1 |
C |
T |
3: 92,554,470 (GRCm39) |
M1I |
probably null |
Het |
| Lmbrd2 |
G |
A |
15: 9,157,382 (GRCm39) |
V207M |
probably damaging |
Het |
| Muc5b |
T |
A |
7: 141,395,129 (GRCm39) |
V45E |
unknown |
Het |
| Mybpc2 |
A |
G |
7: 44,154,806 (GRCm39) |
V977A |
probably damaging |
Het |
| Oas1c |
T |
C |
5: 120,946,744 (GRCm39) |
T29A |
probably benign |
Het |
| Pdzd2 |
G |
T |
15: 12,365,853 (GRCm39) |
|
probably null |
Het |
| Plk2 |
T |
C |
13: 110,532,912 (GRCm39) |
Y158H |
possibly damaging |
Het |
| Prss1l |
T |
C |
6: 41,373,049 (GRCm39) |
I107T |
probably damaging |
Het |
| Ptprq |
A |
G |
10: 107,443,983 (GRCm39) |
|
probably benign |
Het |
| Rnf17 |
C |
T |
14: 56,658,539 (GRCm39) |
T76I |
probably damaging |
Het |
| Serpinb1c |
T |
C |
13: 33,067,958 (GRCm39) |
K213E |
probably damaging |
Het |
| Sidt2 |
A |
G |
9: 45,854,350 (GRCm39) |
V624A |
possibly damaging |
Het |
| Sin3b |
T |
C |
8: 73,483,628 (GRCm39) |
V1005A |
probably benign |
Het |
| Ubr4 |
T |
C |
4: 139,182,495 (GRCm39) |
V358A |
possibly damaging |
Het |
| Zfp120 |
T |
C |
2: 149,961,748 (GRCm39) |
I67V |
possibly damaging |
Het |
| Zfp942 |
A |
T |
17: 22,147,605 (GRCm39) |
H341Q |
probably damaging |
Het |
|
| Other mutations in Gm6871 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2015-08-05 |
Incidental Mutation