Incidental Mutation 'R3195:Gm3604'
ID |
267611 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm3604
|
Ensembl Gene |
ENSMUSG00000094942 |
Gene Name |
predicted gene 3604 |
Synonyms |
|
MMRRC Submission |
040616-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.128)
|
Stock # |
R3195 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
62516142-62530991 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 62517868 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Stop codon
at position 163
(C163*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139845
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107989]
[ENSMUST00000187656]
[ENSMUST00000202194]
|
AlphaFold |
A0A087WPN2 |
Predicted Effect |
probably null
Transcript: ENSMUST00000107989
AA Change: C162*
|
SMART Domains |
Protein: ENSMUSP00000103623 Gene: ENSMUSG00000094942 AA Change: C162*
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 null
Transcript: ENSMUST00000187656
AA Change: C163*
|
SMART Domains |
Protein: ENSMUSP00000139845 Gene: ENSMUSG00000094942 AA Change: C163*
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 |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
97% (33/34) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9130401M01Rik |
A |
T |
15: 57,892,132 (GRCm39) |
N158K |
probably benign |
Het |
Acnat1 |
G |
C |
4: 49,447,457 (GRCm39) |
P357A |
probably damaging |
Het |
Akap6 |
T |
A |
12: 53,119,240 (GRCm39) |
C1102* |
probably null |
Het |
Calb2 |
C |
T |
8: 110,883,635 (GRCm39) |
|
probably benign |
Het |
Cdh15 |
G |
A |
8: 123,583,374 (GRCm39) |
R59H |
probably benign |
Het |
Csgalnact1 |
TGG |
TG |
8: 68,913,737 (GRCm39) |
|
probably null |
Het |
Dmtf1 |
A |
G |
5: 9,182,454 (GRCm39) |
|
probably benign |
Het |
Focad |
A |
G |
4: 88,325,588 (GRCm39) |
E151G |
possibly damaging |
Het |
Frem1 |
A |
G |
4: 82,932,351 (GRCm39) |
F117L |
probably damaging |
Het |
Gab2 |
A |
G |
7: 96,921,236 (GRCm39) |
T204A |
probably benign |
Het |
Gapdh |
T |
C |
6: 125,139,583 (GRCm39) |
N229S |
possibly damaging |
Het |
Iqub |
G |
C |
6: 24,462,036 (GRCm39) |
|
probably benign |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
L1td1 |
A |
G |
4: 98,625,755 (GRCm39) |
E650G |
possibly damaging |
Het |
Lilra5 |
G |
A |
7: 4,241,756 (GRCm39) |
G185D |
probably damaging |
Het |
Lpin1 |
A |
G |
12: 16,615,584 (GRCm39) |
S323P |
possibly damaging |
Het |
Mmp7 |
C |
A |
9: 7,692,219 (GRCm39) |
S31R |
probably benign |
Het |
Myo1h |
G |
A |
5: 114,466,801 (GRCm39) |
C283Y |
probably benign |
Het |
Nfkbiz |
A |
G |
16: 55,639,991 (GRCm39) |
L122P |
probably damaging |
Het |
Or10c1 |
A |
G |
17: 37,522,427 (GRCm39) |
F106L |
possibly damaging |
Het |
Or1e35 |
T |
C |
11: 73,797,484 (GRCm39) |
Y278C |
possibly damaging |
Het |
Paqr8 |
A |
G |
1: 21,005,257 (GRCm39) |
E137G |
probably damaging |
Het |
Pde4b |
G |
A |
4: 102,456,840 (GRCm39) |
A429T |
probably damaging |
Het |
Pes1 |
T |
C |
11: 3,925,736 (GRCm39) |
|
probably benign |
Het |
Reln |
A |
T |
5: 22,245,418 (GRCm39) |
I730N |
possibly damaging |
Het |
Sh3rf1 |
C |
T |
8: 61,679,321 (GRCm39) |
P121L |
probably benign |
Het |
Skint9 |
T |
G |
4: 112,248,148 (GRCm39) |
I199L |
probably benign |
Het |
Slc13a4 |
C |
T |
6: 35,245,861 (GRCm39) |
V595M |
probably damaging |
Het |
Smarca2 |
A |
G |
19: 26,661,222 (GRCm39) |
E939G |
possibly damaging |
Het |
Spg11 |
A |
G |
2: 121,913,879 (GRCm39) |
|
probably null |
Het |
Trpm1 |
T |
A |
7: 63,849,061 (GRCm39) |
Y102* |
probably null |
Het |
Usp42 |
A |
G |
5: 143,702,954 (GRCm39) |
S556P |
probably benign |
Het |
Zfp957 |
A |
G |
14: 79,450,332 (GRCm39) |
V489A |
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 |
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'- GGAGACTACATTTCTCAGAAAAGGC -3'
(R):5'- GTTCATACAGAAAAGATCCCCTCTG -3'
Sequencing Primer
(F):5'- TCTCAGAAAAGGCTTTATCACATTG -3'
(R):5'- CTCTGAAGTTATTCACTGTGTCGAAG -3'
|
Posted On |
2015-02-18 |