Incidental Mutation 'R6184:Gm3604'
| ID |
488160 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm3604
|
| Ensembl Gene |
ENSMUSG00000094942 |
| Gene Name |
predicted gene 3604 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.135)
|
| Stock # |
R6184 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
62516142-62530991 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 62519659 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 32
(V32D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144048
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107989]
[ENSMUST00000187656]
[ENSMUST00000202194]
|
| AlphaFold |
A0A087WPN2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107989
AA Change: V31D
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000103623
Gene: ENSMUSG00000094942
AA Change: V31D
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
3 |
65 |
4.49e-17 |
SMART |
|
ZnF_C2H2
|
132 |
154 |
2.71e-2 |
SMART |
|
ZnF_C2H2
|
160 |
182 |
1.3e-4 |
SMART |
|
ZnF_C2H2
|
188 |
210 |
5.21e-4 |
SMART |
|
ZnF_C2H2
|
216 |
238 |
1.82e-3 |
SMART |
|
ZnF_C2H2
|
244 |
266 |
7.78e-3 |
SMART |
|
ZnF_C2H2
|
272 |
294 |
3.69e-4 |
SMART |
|
ZnF_C2H2
|
300 |
322 |
3.95e-4 |
SMART |
|
ZnF_C2H2
|
328 |
350 |
9.08e-4 |
SMART |
|
ZnF_C2H2
|
356 |
378 |
1.45e-2 |
SMART |
|
ZnF_C2H2
|
384 |
406 |
1.92e-2 |
SMART |
|
ZnF_C2H2
|
412 |
434 |
1.3e-4 |
SMART |
|
ZnF_C2H2
|
440 |
462 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
468 |
490 |
1.4e-4 |
SMART |
|
ZnF_C2H2
|
496 |
518 |
3.95e-4 |
SMART |
|
ZnF_C2H2
|
524 |
546 |
2.29e1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000187656
AA Change: V32D
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000139845
Gene: ENSMUSG00000094942
AA Change: V32D
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
4 |
66 |
1.9e-19 |
SMART |
|
ZnF_C2H2
|
133 |
155 |
1.2e-4 |
SMART |
|
ZnF_C2H2
|
161 |
183 |
5.5e-7 |
SMART |
|
ZnF_C2H2
|
189 |
211 |
2.3e-6 |
SMART |
|
ZnF_C2H2
|
217 |
239 |
7.5e-6 |
SMART |
|
ZnF_C2H2
|
245 |
267 |
3.4e-5 |
SMART |
|
ZnF_C2H2
|
273 |
295 |
1.5e-6 |
SMART |
|
ZnF_C2H2
|
301 |
323 |
1.7e-6 |
SMART |
|
ZnF_C2H2
|
329 |
351 |
3.7e-6 |
SMART |
|
ZnF_C2H2
|
357 |
379 |
6.3e-5 |
SMART |
|
ZnF_C2H2
|
385 |
407 |
7.8e-5 |
SMART |
|
ZnF_C2H2
|
413 |
435 |
5.5e-7 |
SMART |
|
ZnF_C2H2
|
441 |
463 |
2e-6 |
SMART |
|
ZnF_C2H2
|
469 |
491 |
5.8e-7 |
SMART |
|
ZnF_C2H2
|
497 |
519 |
1.6e-6 |
SMART |
|
ZnF_C2H2
|
525 |
547 |
9.6e-2 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000202194
AA Change: V32D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144048
Gene: ENSMUSG00000094942
AA Change: V32D
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
4 |
65 |
1.2e-19 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410004P03Rik |
A |
G |
12: 17,057,179 (GRCm39) |
F106S |
probably benign |
Het |
| Adgrv1 |
A |
T |
13: 81,581,957 (GRCm39) |
F4696I |
probably benign |
Het |
| Ank2 |
T |
C |
3: 126,756,047 (GRCm39) |
I1073V |
probably damaging |
Het |
| Card11 |
A |
T |
5: 140,884,033 (GRCm39) |
D415E |
probably damaging |
Het |
| Clec16a |
G |
A |
16: 10,390,792 (GRCm39) |
|
probably null |
Het |
| Coro2a |
T |
C |
4: 46,540,504 (GRCm39) |
T472A |
probably benign |
Het |
| D130043K22Rik |
T |
A |
13: 25,069,574 (GRCm39) |
F878I |
probably damaging |
Het |
| D5Ertd579e |
G |
T |
5: 36,787,127 (GRCm39) |
D80E |
probably damaging |
Het |
| Ddrgk1 |
A |
T |
2: 130,506,481 (GRCm39) |
V2E |
possibly damaging |
Het |
| Disp1 |
T |
C |
1: 182,867,896 (GRCm39) |
H1508R |
probably benign |
Het |
| Dmtf1 |
T |
C |
5: 9,176,656 (GRCm39) |
N344S |
probably benign |
Het |
| Eml5 |
A |
G |
12: 98,829,388 (GRCm39) |
V503A |
possibly damaging |
Het |
| Fat1 |
A |
G |
8: 45,406,429 (GRCm39) |
H1060R |
probably benign |
Het |
| Fbxw8 |
C |
T |
5: 118,251,814 (GRCm39) |
R233Q |
probably damaging |
Het |
| Fer1l4 |
T |
C |
2: 155,890,211 (GRCm39) |
K238R |
probably damaging |
Het |
| Flg |
T |
A |
3: 93,187,357 (GRCm39) |
S270T |
probably benign |
Het |
| Gm10801 |
TC |
TCGCC |
2: 98,494,151 (GRCm39) |
|
probably benign |
Het |
| Gnl2 |
T |
G |
4: 124,948,022 (GRCm39) |
|
probably null |
Het |
| Gpr162 |
A |
G |
6: 124,838,204 (GRCm39) |
S149P |
probably damaging |
Het |
| Il2ra |
T |
A |
2: 11,652,790 (GRCm39) |
|
probably benign |
Het |
| Kics2 |
T |
C |
10: 121,586,810 (GRCm39) |
L375P |
probably damaging |
Het |
| Kmt5b |
T |
A |
19: 3,854,499 (GRCm39) |
M254K |
probably damaging |
Het |
| Lrriq3 |
T |
C |
3: 154,835,039 (GRCm39) |
I258T |
probably benign |
Het |
| Mbnl1 |
T |
C |
3: 60,523,165 (GRCm39) |
L328S |
probably damaging |
Het |
| Mboat2 |
A |
G |
12: 25,001,430 (GRCm39) |
D277G |
possibly damaging |
Het |
| Mug2 |
A |
G |
6: 122,014,005 (GRCm39) |
I364V |
probably benign |
Het |
| Myh7 |
G |
A |
14: 55,226,315 (GRCm39) |
R442C |
probably damaging |
Het |
| Nin |
A |
G |
12: 70,090,511 (GRCm39) |
L968P |
probably damaging |
Het |
| Or1l8 |
T |
C |
2: 36,817,404 (GRCm39) |
T241A |
probably damaging |
Het |
| Or5w14 |
A |
T |
2: 87,542,188 (GRCm39) |
Y21N |
probably benign |
Het |
| Or8g53 |
T |
G |
9: 39,683,916 (GRCm39) |
Y60S |
probably damaging |
Het |
| Per1 |
C |
T |
11: 68,993,730 (GRCm39) |
P403S |
probably damaging |
Het |
| Ppip5k2 |
T |
C |
1: 97,661,730 (GRCm39) |
I723V |
possibly damaging |
Het |
| Ptprg |
A |
G |
14: 12,153,943 (GRCm38) |
T555A |
probably benign |
Het |
| Rgsl1 |
C |
T |
1: 153,703,194 (GRCm39) |
M187I |
probably benign |
Het |
| Sec31a |
A |
G |
5: 100,517,453 (GRCm39) |
|
probably null |
Het |
| Sptbn5 |
C |
T |
2: 119,889,898 (GRCm39) |
|
probably benign |
Het |
| Sry |
C |
G |
Y: 2,662,975 (GRCm39) |
Q228H |
unknown |
Het |
| Stx1b |
G |
A |
7: 127,407,077 (GRCm39) |
T206I |
possibly damaging |
Het |
| Tsc22d4 |
T |
A |
5: 137,757,351 (GRCm39) |
M35K |
probably damaging |
Het |
| Zc2hc1c |
A |
G |
12: 85,343,218 (GRCm39) |
K452E |
probably damaging |
Het |
| Zfp386 |
A |
G |
12: 116,024,133 (GRCm39) |
N582S |
possibly damaging |
Het |
| Zfp457 |
A |
G |
13: 67,440,976 (GRCm39) |
V437A |
possibly damaging |
Het |
| Zfp599 |
T |
C |
9: 22,160,947 (GRCm39) |
Y406C |
probably benign |
Het |
| Zfyve26 |
G |
A |
12: 79,315,501 (GRCm39) |
S1325F |
probably damaging |
Het |
|
| Other mutations in Gm3604 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01869:Gm3604
|
APN |
13 |
62,517,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02601:Gm3604
|
APN |
13 |
62,517,990 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL03386:Gm3604
|
APN |
13 |
62,517,981 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1539:Gm3604
|
UTSW |
13 |
62,519,414 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1771:Gm3604
|
UTSW |
13 |
62,517,888 (GRCm39) |
nonsense |
probably null |
|
|
R1776:Gm3604
|
UTSW |
13 |
62,517,888 (GRCm39) |
nonsense |
probably null |
|
|
R1919:Gm3604
|
UTSW |
13 |
62,517,756 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1954:Gm3604
|
UTSW |
13 |
62,517,025 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2093:Gm3604
|
UTSW |
13 |
62,517,420 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R2291:Gm3604
|
UTSW |
13 |
62,519,657 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2909:Gm3604
|
UTSW |
13 |
62,516,832 (GRCm39) |
missense |
probably benign |
0.43 |
|
R3195:Gm3604
|
UTSW |
13 |
62,517,868 (GRCm39) |
nonsense |
probably null |
|
|
R3196:Gm3604
|
UTSW |
13 |
62,517,868 (GRCm39) |
nonsense |
probably null |
|
|
R3924:Gm3604
|
UTSW |
13 |
62,518,044 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4328:Gm3604
|
UTSW |
13 |
62,517,079 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4543:Gm3604
|
UTSW |
13 |
62,517,970 (GRCm39) |
missense |
probably benign |
|
|
R4830:Gm3604
|
UTSW |
13 |
62,516,857 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5129:Gm3604
|
UTSW |
13 |
62,517,588 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5496:Gm3604
|
UTSW |
13 |
62,519,393 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6426:Gm3604
|
UTSW |
13 |
62,517,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6925:Gm3604
|
UTSW |
13 |
62,517,204 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7080:Gm3604
|
UTSW |
13 |
62,518,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7182:Gm3604
|
UTSW |
13 |
62,519,689 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7572:Gm3604
|
UTSW |
13 |
62,518,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7750:Gm3604
|
UTSW |
13 |
62,517,810 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7960:Gm3604
|
UTSW |
13 |
62,517,587 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8023:Gm3604
|
UTSW |
13 |
62,517,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8062:Gm3604
|
UTSW |
13 |
62,518,155 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8093:Gm3604
|
UTSW |
13 |
62,517,363 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8532:Gm3604
|
UTSW |
13 |
62,516,769 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R9262:Gm3604
|
UTSW |
13 |
62,517,697 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9659:Gm3604
|
UTSW |
13 |
62,519,724 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9673:Gm3604
|
UTSW |
13 |
62,517,969 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9788:Gm3604
|
UTSW |
13 |
62,519,724 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGCTAATCTACACTGCTCCT -3'
(R):5'- AGTAGAACTTGGGTGTGAGTAAATA -3'
Sequencing Primer
(F):5'- GCAGATATGTATGAGCTTGCAC -3'
(R):5'- GCCCCAGAATTATATGAACACATTG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation