Incidental Mutation 'R1406:Gm17535'
| ID |
160389 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm17535
|
| Ensembl Gene |
ENSMUSG00000096736 |
| Gene Name |
predicted gene, 17535 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.251)
|
| Stock # |
R1406 (G1)
|
| Quality Score |
107 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
3034599-3035805 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 3035804 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 224
(Y224C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135988
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099042]
[ENSMUST00000099051]
[ENSMUST00000099056]
[ENSMUST00000155807]
[ENSMUST00000177969]
[ENSMUST00000178641]
[ENSMUST00000179264]
[ENSMUST00000179839]
|
| AlphaFold |
J3KMR8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099042
|
| SMART Domains |
Protein: ENSMUSP00000096640
Gene: ENSMUSG00000095891
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
1 |
47 |
9.09e-8 |
PROSPERO |
|
transmembrane domain
|
76 |
98 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
117 |
164 |
9.09e-8 |
PROSPERO |
|
transmembrane domain
|
195 |
217 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099051
|
| SMART Domains |
Protein: ENSMUSP00000096650
Gene: ENSMUSG00000095891
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
2 |
38 |
6.22e-5 |
PROSPERO |
|
transmembrane domain
|
58 |
80 |
N/A |
INTRINSIC |
|
transmembrane domain
|
90 |
109 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
118 |
174 |
6.22e-5 |
PROSPERO |
|
transmembrane domain
|
185 |
207 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099056
|
| SMART Domains |
Protein: ENSMUSP00000096655
Gene: ENSMUSG00000095891
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
1 |
50 |
9.96e-8 |
PROSPERO |
|
transmembrane domain
|
67 |
89 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
117 |
223 |
9.96e-8 |
PROSPERO |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155807
|
| SMART Domains |
Protein: ENSMUSP00000136448
Gene: ENSMUSG00000096201
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
1 |
48 |
2.67e-7 |
PROSPERO |
|
transmembrane domain
|
77 |
99 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
117 |
165 |
2.67e-7 |
PROSPERO |
|
transmembrane domain
|
186 |
208 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177969
|
| SMART Domains |
Protein: ENSMUSP00000137129
Gene: ENSMUSG00000096201
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
1 |
49 |
2.44e-6 |
PROSPERO |
|
transmembrane domain
|
69 |
91 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
117 |
185 |
2.44e-6 |
PROSPERO |
|
transmembrane domain
|
197 |
219 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000178641
AA Change: Y224C
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000135988
Gene: ENSMUSG00000096736
AA Change: Y224C
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
1 |
49 |
1.86e-5 |
PROSPERO |
|
transmembrane domain
|
67 |
89 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
117 |
185 |
1.86e-5 |
PROSPERO |
|
transmembrane domain
|
196 |
218 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179264
|
| SMART Domains |
Protein: ENSMUSP00000137451
Gene: ENSMUSG00000095891
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
1 |
43 |
5.09e-6 |
PROSPERO |
|
transmembrane domain
|
69 |
91 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
117 |
179 |
5.09e-6 |
PROSPERO |
|
transmembrane domain
|
196 |
218 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181957
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181572
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195989
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179839
|
| SMART Domains |
Protein: ENSMUSP00000136837
Gene: ENSMUSG00000095891
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
1 |
46 |
1.07e-7 |
PROSPERO |
|
transmembrane domain
|
67 |
89 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
117 |
182 |
1.07e-7 |
PROSPERO |
|
transmembrane domain
|
197 |
219 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.2%
- 10x: 92.2%
- 20x: 76.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap11 |
T |
C |
14: 78,750,189 (GRCm39) |
T733A |
probably benign |
Het |
| Antxrl |
A |
G |
14: 33,794,999 (GRCm39) |
N476D |
possibly damaging |
Het |
| Armc8 |
G |
T |
9: 99,405,301 (GRCm39) |
P268Q |
probably benign |
Het |
| Asb8 |
C |
A |
15: 98,034,304 (GRCm39) |
G84C |
probably damaging |
Het |
| BC035044 |
A |
T |
6: 128,862,047 (GRCm39) |
|
probably null |
Het |
| Caprin1 |
A |
G |
2: 103,606,332 (GRCm39) |
F303L |
probably benign |
Het |
| Cdh20 |
G |
A |
1: 109,988,862 (GRCm39) |
V255I |
probably benign |
Het |
| Ctdspl2 |
G |
A |
2: 121,837,349 (GRCm39) |
R371Q |
probably damaging |
Het |
| Dctn4 |
T |
A |
18: 60,689,402 (GRCm39) |
D431E |
probably benign |
Het |
| Dhx40 |
T |
C |
11: 86,688,571 (GRCm39) |
E284G |
probably benign |
Het |
| Dhx9 |
A |
G |
1: 153,340,684 (GRCm39) |
V652A |
probably damaging |
Het |
| Fnip2 |
G |
T |
3: 79,415,398 (GRCm39) |
N213K |
possibly damaging |
Het |
| Itch |
A |
G |
2: 155,048,274 (GRCm39) |
E546G |
possibly damaging |
Het |
| Map3k20 |
A |
T |
2: 72,219,838 (GRCm39) |
I257F |
probably damaging |
Het |
| Mdc1 |
C |
T |
17: 36,164,424 (GRCm39) |
T1324I |
probably benign |
Het |
| Mertk |
T |
C |
2: 128,613,406 (GRCm39) |
I474T |
probably benign |
Het |
| Nav3 |
A |
G |
10: 109,719,495 (GRCm39) |
V156A |
possibly damaging |
Het |
| Nbea |
A |
G |
3: 55,944,702 (GRCm39) |
V554A |
probably benign |
Het |
| Or10z1 |
T |
A |
1: 174,078,427 (GRCm39) |
E22V |
possibly damaging |
Het |
| Or13c7c |
C |
T |
4: 43,835,582 (GRCm39) |
V303M |
possibly damaging |
Het |
| Or4f57 |
A |
G |
2: 111,790,926 (GRCm39) |
V164A |
probably benign |
Het |
| Pask |
A |
G |
1: 93,249,373 (GRCm39) |
Y676H |
probably benign |
Het |
| Pcare |
T |
C |
17: 72,056,156 (GRCm39) |
N1174D |
probably benign |
Het |
| Rab32 |
A |
G |
10: 10,426,637 (GRCm39) |
V103A |
probably damaging |
Het |
| Rp1 |
T |
C |
1: 4,422,144 (GRCm39) |
E262G |
possibly damaging |
Het |
| Rtn4 |
A |
G |
11: 29,658,236 (GRCm39) |
T797A |
probably benign |
Het |
| Sall1 |
A |
T |
8: 89,759,072 (GRCm39) |
I344K |
probably benign |
Het |
| Scnn1b |
T |
C |
7: 121,501,767 (GRCm39) |
|
probably null |
Het |
| Slc7a2 |
G |
T |
8: 41,358,622 (GRCm39) |
G322W |
probably damaging |
Het |
| Snx29 |
A |
G |
16: 11,217,657 (GRCm39) |
M153V |
probably benign |
Het |
| Sp110 |
T |
G |
1: 85,506,800 (GRCm39) |
E421A |
probably benign |
Het |
| Stk4 |
C |
T |
2: 163,942,448 (GRCm39) |
T360M |
probably benign |
Het |
| Ush1c |
A |
C |
7: 45,874,965 (GRCm39) |
|
probably null |
Het |
| Vmn2r8 |
C |
T |
5: 108,950,234 (GRCm39) |
M204I |
probably benign |
Het |
| Zfp839 |
C |
T |
12: 110,832,744 (GRCm39) |
T554M |
probably damaging |
Het |
|
| Other mutations in Gm17535 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00340:Gm17535
|
APN |
9 |
3,035,111 (GRCm39) |
missense |
probably benign |
|
|
R0153:Gm17535
|
UTSW |
9 |
3,035,786 (GRCm39) |
missense |
probably benign |
|
|
R0646:Gm17535
|
UTSW |
9 |
3,035,804 (GRCm39) |
missense |
probably null |
0.86 |
|
R1286:Gm17535
|
UTSW |
9 |
3,035,786 (GRCm39) |
missense |
probably benign |
|
|
R1403:Gm17535
|
UTSW |
9 |
3,035,804 (GRCm39) |
missense |
probably null |
0.86 |
|
R1404:Gm17535
|
UTSW |
9 |
3,035,804 (GRCm39) |
missense |
probably null |
0.86 |
|
R1422:Gm17535
|
UTSW |
9 |
3,035,804 (GRCm39) |
missense |
probably null |
0.86 |
|
R4827:Gm17535
|
UTSW |
9 |
3,035,786 (GRCm39) |
missense |
probably benign |
|
|
R5039:Gm17535
|
UTSW |
9 |
3,035,786 (GRCm39) |
missense |
probably benign |
|
|
R5802:Gm17535
|
UTSW |
9 |
3,035,758 (GRCm39) |
missense |
probably benign |
0.36 |
|
| Predicted Primers |
|
| Posted On |
2014-03-14 |
Incidental Mutation