Incidental Mutation 'R1404:Gm17535'
| ID |
160496 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm17535
|
| Ensembl Gene |
ENSMUSG00000096736 |
| Gene Name |
predicted gene, 17535 |
| Synonyms |
|
| MMRRC Submission |
039466-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.246)
|
| Stock # |
R1404 (G1)
|
| Quality Score |
122 |
|
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: 99.0%
- 3x: 96.4%
- 10x: 81.1%
- 20x: 48.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aoc1l1 |
A |
T |
6: 48,952,767 (GRCm39) |
T231S |
probably benign |
Het |
| Arrdc3 |
A |
G |
13: 81,031,973 (GRCm39) |
T69A |
probably damaging |
Het |
| Bbs2 |
T |
C |
8: 94,808,627 (GRCm39) |
K360R |
probably null |
Het |
| Cdh8 |
A |
T |
8: 100,006,250 (GRCm39) |
N112K |
probably damaging |
Het |
| Ces5a |
A |
T |
8: 94,228,809 (GRCm39) |
F474I |
probably damaging |
Het |
| Dync1i1 |
G |
A |
6: 5,915,876 (GRCm39) |
D253N |
probably damaging |
Het |
| Fam151b |
T |
C |
13: 92,610,480 (GRCm39) |
D103G |
probably damaging |
Het |
| Fam227b |
A |
G |
2: 125,845,759 (GRCm39) |
L410P |
probably damaging |
Het |
| Ihh |
A |
T |
1: 74,990,372 (GRCm39) |
M1K |
probably null |
Het |
| Itga6 |
A |
G |
2: 71,669,060 (GRCm39) |
T617A |
probably benign |
Het |
| Itpr1 |
T |
A |
6: 108,363,609 (GRCm39) |
C744S |
probably benign |
Het |
| Kif5a |
T |
C |
10: 127,081,311 (GRCm39) |
I208V |
probably benign |
Het |
| Lama4 |
A |
G |
10: 38,937,387 (GRCm39) |
K659R |
probably benign |
Het |
| Lpin3 |
T |
A |
2: 160,734,310 (GRCm39) |
|
probably null |
Het |
| Macf1 |
T |
A |
4: 123,270,309 (GRCm39) |
E6612V |
probably damaging |
Het |
| Ncdn |
T |
C |
4: 126,643,833 (GRCm39) |
K330E |
probably benign |
Het |
| Neb |
C |
T |
2: 52,073,287 (GRCm39) |
D1975N |
possibly damaging |
Het |
| Nell1 |
T |
A |
7: 50,503,621 (GRCm39) |
N675K |
possibly damaging |
Het |
| Nlrp6 |
GAGAAGAAGAAGAAGAAGAAGA |
GAGAAGAAGAAGAAGAAGA |
7: 140,504,026 (GRCm39) |
|
probably benign |
Het |
| Or4f47 |
G |
A |
2: 111,972,968 (GRCm39) |
R226H |
probably benign |
Het |
| Rnf43 |
A |
G |
11: 87,625,003 (GRCm39) |
E737G |
possibly damaging |
Het |
| Sardh |
C |
A |
2: 27,129,473 (GRCm39) |
W275L |
probably damaging |
Het |
| Sfi1 |
TCGC |
TC |
11: 3,096,254 (GRCm39) |
|
probably null |
Het |
| Sfi1 |
CCTCTC |
CCTCTCTC |
11: 3,127,419 (GRCm39) |
|
probably benign |
Het |
| Sipa1l2 |
G |
A |
8: 126,176,712 (GRCm39) |
H1185Y |
probably damaging |
Het |
| Skp2 |
G |
A |
15: 9,117,012 (GRCm39) |
Q298* |
probably null |
Het |
| Stk4 |
C |
T |
2: 163,942,448 (GRCm39) |
T360M |
probably benign |
Het |
| Stx12 |
T |
A |
4: 132,598,960 (GRCm39) |
I43L |
probably benign |
Het |
| Tmc1 |
T |
A |
19: 20,793,548 (GRCm39) |
I538F |
possibly damaging |
Het |
| Tollip |
T |
C |
7: 141,438,292 (GRCm39) |
M209V |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,643,312 (GRCm39) |
S13202R |
probably damaging |
Het |
| Vmn2r60 |
T |
A |
7: 41,786,211 (GRCm39) |
V338D |
probably damaging |
Het |
| Vwa8 |
T |
C |
14: 79,263,471 (GRCm39) |
L767P |
probably damaging |
Het |
| Zfp202 |
C |
T |
9: 40,122,792 (GRCm39) |
T518I |
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 |
|
R1406: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