Incidental Mutation 'R2909:Gm3604'
| ID |
261151 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm3604
|
| Ensembl Gene |
ENSMUSG00000094942 |
| Gene Name |
predicted gene 3604 |
| Synonyms |
|
| MMRRC Submission |
040496-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.128)
|
| Stock # |
R2909 (G1)
|
| Quality Score |
208 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
62516142-62530991 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 62516832 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Aspartic acid
at position 509
(H509D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139845
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107989]
[ENSMUST00000187656]
[ENSMUST00000202194]
|
| AlphaFold |
A0A087WPN2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107989
AA Change: H508D
PolyPhen 2
Score 0.188 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000103623
Gene: ENSMUSG00000094942
AA Change: H508D
| 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 benign
Transcript: ENSMUST00000187656
AA Change: H509D
PolyPhen 2
Score 0.429 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000139845
Gene: ENSMUSG00000094942
AA Change: H509D
| 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 benign
Transcript: ENSMUST00000202194
|
| SMART Domains |
Protein: ENSMUSP00000144048
Gene: ENSMUSG00000094942
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
4 |
65 |
1.2e-19 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr5 |
G |
A |
2: 158,467,140 (GRCm39) |
G27R |
possibly damaging |
Het |
| Bltp1 |
A |
G |
3: 37,002,102 (GRCm39) |
D1349G |
probably damaging |
Het |
| Chrm3 |
G |
T |
13: 9,928,033 (GRCm39) |
D334E |
probably benign |
Het |
| Clic5 |
A |
C |
17: 44,586,146 (GRCm39) |
T212P |
probably benign |
Het |
| Dapk1 |
G |
A |
13: 60,864,631 (GRCm39) |
|
probably null |
Het |
| Dync2h1 |
A |
T |
9: 7,049,114 (GRCm39) |
L3262H |
probably damaging |
Het |
| Epg5 |
G |
C |
18: 78,026,691 (GRCm39) |
W1227C |
probably damaging |
Het |
| Fancm |
T |
C |
12: 65,171,630 (GRCm39) |
S1757P |
probably damaging |
Het |
| Gramd4 |
G |
T |
15: 86,006,384 (GRCm39) |
E163* |
probably null |
Het |
| Hip1r |
T |
A |
5: 124,138,656 (GRCm39) |
|
probably null |
Het |
| Ice1 |
G |
T |
13: 70,744,292 (GRCm39) |
T2097K |
probably damaging |
Het |
| Il12a |
TCAC |
TC |
3: 68,605,320 (GRCm39) |
|
probably null |
Het |
| Kbtbd7 |
A |
G |
14: 79,665,922 (GRCm39) |
T585A |
probably benign |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Kcnq3 |
T |
C |
15: 65,897,085 (GRCm39) |
T272A |
possibly damaging |
Het |
| Ly6l |
T |
G |
15: 75,321,481 (GRCm39) |
|
probably null |
Het |
| Minar1 |
T |
C |
9: 89,473,331 (GRCm39) |
N860S |
probably damaging |
Het |
| Mrps11 |
C |
A |
7: 78,438,497 (GRCm39) |
A83E |
probably damaging |
Het |
| Or1af1 |
C |
T |
2: 37,110,188 (GRCm39) |
P229L |
probably damaging |
Het |
| Pax7 |
T |
C |
4: 139,556,007 (GRCm39) |
I156V |
possibly damaging |
Het |
| Plbd1 |
A |
T |
6: 136,611,572 (GRCm39) |
V235D |
probably damaging |
Het |
| Pml |
T |
C |
9: 58,154,526 (GRCm39) |
S76G |
possibly damaging |
Het |
| Ppp1r42 |
T |
A |
1: 10,073,637 (GRCm39) |
|
probably benign |
Het |
| Rsl24d1 |
T |
C |
9: 73,029,585 (GRCm39) |
L61S |
probably damaging |
Het |
| Rtp2 |
T |
C |
16: 23,746,235 (GRCm39) |
E132G |
probably damaging |
Het |
| Sgk1 |
A |
G |
10: 21,870,715 (GRCm39) |
I23V |
probably benign |
Het |
| Sharpin |
A |
G |
15: 76,234,811 (GRCm39) |
|
probably benign |
Het |
| Sipa1l1 |
T |
A |
12: 82,404,105 (GRCm39) |
Y533N |
probably benign |
Het |
| Slc12a9 |
T |
C |
5: 137,330,463 (GRCm39) |
I81V |
probably benign |
Het |
| Stxbp5l |
G |
A |
16: 37,028,548 (GRCm39) |
T505M |
possibly damaging |
Het |
| Tmem40 |
A |
G |
6: 115,713,342 (GRCm39) |
|
probably null |
Het |
| Tnfrsf18 |
A |
T |
4: 156,112,727 (GRCm39) |
N138Y |
probably damaging |
Het |
| Vmn2r87 |
A |
T |
10: 130,314,865 (GRCm39) |
N240K |
probably damaging |
Het |
| Vmn2r91 |
A |
G |
17: 18,356,661 (GRCm39) |
E776G |
probably damaging |
Het |
| Vmn2r92 |
T |
A |
17: 18,405,377 (GRCm39) |
N840K |
possibly damaging |
Het |
| Vmn2r98 |
T |
C |
17: 19,287,664 (GRCm39) |
I499T |
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 |
|
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 |
|
R6184:Gm3604
|
UTSW |
13 |
62,519,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- AGGTTGCTCACAATGAAATTCC -3'
(R):5'- GGAGAGAAACCCTACAAATGTAATC -3'
Sequencing Primer
(F):5'- GCTCACAATGAAATTCCTTCGTAG -3'
(R):5'- AGCTTTTTCAAGACACAGTACTC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation