Incidental Mutation 'R5637:Cobll1'
ID |
440409 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cobll1
|
Ensembl Gene |
ENSMUSG00000034903 |
Gene Name |
Cobl-like 1 |
Synonyms |
Coblr1, D430044D16Rik |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.284)
|
Stock # |
R5637 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
64918683-65069742 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 64956247 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 337
(D337G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099787
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090896]
[ENSMUST00000102726]
[ENSMUST00000112429]
[ENSMUST00000112430]
[ENSMUST00000112431]
[ENSMUST00000155916]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000090896
AA Change: D337G
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000088412 Gene: ENSMUSG00000034903 AA Change: D337G
Domain | Start | End | E-Value | Type |
low complexity region
|
147 |
158 |
N/A |
INTRINSIC |
Pfam:Cobl
|
186 |
264 |
1.3e-38 |
PFAM |
low complexity region
|
332 |
343 |
N/A |
INTRINSIC |
low complexity region
|
426 |
438 |
N/A |
INTRINSIC |
low complexity region
|
1023 |
1034 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102726
AA Change: D337G
PolyPhen 2
Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000099787 Gene: ENSMUSG00000034903 AA Change: D337G
Domain | Start | End | E-Value | Type |
low complexity region
|
147 |
158 |
N/A |
INTRINSIC |
Pfam:Cobl
|
186 |
264 |
5.6e-39 |
PFAM |
low complexity region
|
332 |
343 |
N/A |
INTRINSIC |
low complexity region
|
464 |
476 |
N/A |
INTRINSIC |
low complexity region
|
1060 |
1071 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000112429
AA Change: D337G
PolyPhen 2
Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000108048 Gene: ENSMUSG00000034903 AA Change: D337G
Domain | Start | End | E-Value | Type |
Pfam:Cobl
|
148 |
239 |
5.4e-49 |
PFAM |
low complexity region
|
332 |
343 |
N/A |
INTRINSIC |
low complexity region
|
464 |
476 |
N/A |
INTRINSIC |
low complexity region
|
1061 |
1072 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112430
AA Change: D336G
PolyPhen 2
Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000108049 Gene: ENSMUSG00000034903 AA Change: D336G
Domain | Start | End | E-Value | Type |
low complexity region
|
146 |
157 |
N/A |
INTRINSIC |
Pfam:Cobl
|
185 |
263 |
1.3e-38 |
PFAM |
low complexity region
|
331 |
342 |
N/A |
INTRINSIC |
low complexity region
|
425 |
437 |
N/A |
INTRINSIC |
low complexity region
|
1022 |
1033 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000112431
AA Change: D337G
PolyPhen 2
Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000108050 Gene: ENSMUSG00000034903 AA Change: D337G
Domain | Start | End | E-Value | Type |
low complexity region
|
147 |
158 |
N/A |
INTRINSIC |
Pfam:Cobl
|
186 |
264 |
5.6e-39 |
PFAM |
low complexity region
|
332 |
343 |
N/A |
INTRINSIC |
low complexity region
|
464 |
476 |
N/A |
INTRINSIC |
low complexity region
|
1061 |
1072 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155916
|
SMART Domains |
Protein: ENSMUSP00000115065 Gene: ENSMUSG00000034903
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
24 |
N/A |
INTRINSIC |
low complexity region
|
167 |
178 |
N/A |
INTRINSIC |
Pfam:Cobl
|
206 |
297 |
2.4e-37 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acmsd |
T |
C |
1: 127,694,050 (GRCm39) |
F327L |
probably damaging |
Het |
Adgrl3 |
C |
A |
5: 81,841,391 (GRCm39) |
S824Y |
probably damaging |
Het |
Arfip2 |
A |
G |
7: 105,286,370 (GRCm39) |
M144T |
probably damaging |
Het |
Arhgap32 |
A |
G |
9: 32,158,502 (GRCm39) |
N179S |
probably damaging |
Het |
Ash2l |
T |
C |
8: 26,317,339 (GRCm39) |
Y249C |
probably damaging |
Het |
Ccndbp1 |
A |
G |
2: 120,842,165 (GRCm39) |
T141A |
probably benign |
Het |
Cd177 |
T |
A |
7: 24,455,748 (GRCm39) |
H258L |
probably benign |
Het |
Celsr3 |
T |
C |
9: 108,714,332 (GRCm39) |
W1956R |
probably damaging |
Het |
Cep295 |
T |
C |
9: 15,245,108 (GRCm39) |
|
probably null |
Het |
Cngb1 |
T |
C |
8: 95,984,549 (GRCm39) |
H420R |
probably damaging |
Het |
Cobl |
C |
T |
11: 12,246,531 (GRCm39) |
|
probably benign |
Het |
Dmrta1 |
A |
G |
4: 89,577,068 (GRCm39) |
N175D |
probably benign |
Het |
Dnah7b |
G |
T |
1: 46,395,674 (GRCm39) |
V3859L |
possibly damaging |
Het |
Dnah7c |
A |
G |
1: 46,799,521 (GRCm39) |
|
probably null |
Het |
Dusp4 |
C |
A |
8: 35,284,451 (GRCm39) |
H255Q |
probably damaging |
Het |
Evx1 |
T |
C |
6: 52,292,751 (GRCm39) |
V134A |
possibly damaging |
Het |
F12 |
T |
C |
13: 55,570,228 (GRCm39) |
K93E |
possibly damaging |
Het |
Fam186a |
A |
C |
15: 99,839,628 (GRCm39) |
H2205Q |
possibly damaging |
Het |
Fcgbpl1 |
A |
G |
7: 27,852,277 (GRCm39) |
N1267D |
probably benign |
Het |
Frem2 |
A |
G |
3: 53,560,358 (GRCm39) |
I1383T |
probably damaging |
Het |
Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
Gpr158 |
A |
G |
2: 21,788,083 (GRCm39) |
I575V |
probably benign |
Het |
Hdc |
A |
G |
2: 126,458,109 (GRCm39) |
V71A |
probably benign |
Het |
Helb |
G |
A |
10: 119,941,353 (GRCm39) |
T445M |
probably benign |
Het |
Inppl1 |
A |
T |
7: 101,478,055 (GRCm39) |
S652R |
probably benign |
Het |
Itpripl1 |
T |
C |
2: 126,984,044 (GRCm39) |
D26G |
probably damaging |
Het |
Klc1 |
T |
A |
12: 111,740,842 (GRCm39) |
L106H |
probably damaging |
Het |
Klhl25 |
T |
A |
7: 75,515,540 (GRCm39) |
|
probably null |
Het |
Krt6a |
T |
C |
15: 101,600,714 (GRCm39) |
D318G |
probably benign |
Het |
Lrp2 |
T |
C |
2: 69,302,762 (GRCm39) |
N2989S |
probably damaging |
Het |
Lta4h |
A |
G |
10: 93,304,731 (GRCm39) |
|
probably null |
Het |
Man1c1 |
A |
G |
4: 134,318,735 (GRCm39) |
S251P |
probably damaging |
Het |
Mapre2 |
T |
C |
18: 23,886,919 (GRCm39) |
|
probably benign |
Het |
Mfap3l |
A |
T |
8: 61,109,821 (GRCm39) |
I66F |
probably damaging |
Het |
Mvk |
A |
G |
5: 114,594,003 (GRCm39) |
E286G |
possibly damaging |
Het |
Nos1ap |
T |
A |
1: 170,176,968 (GRCm39) |
K145M |
probably damaging |
Het |
Or14a260 |
G |
A |
7: 85,984,812 (GRCm39) |
T264I |
probably benign |
Het |
Or4f52 |
T |
A |
2: 111,061,456 (GRCm39) |
K227N |
probably benign |
Het |
Or7d11 |
A |
T |
9: 19,966,279 (GRCm39) |
V160D |
possibly damaging |
Het |
Pcdh9 |
A |
G |
14: 94,123,198 (GRCm39) |
F991L |
possibly damaging |
Het |
Pcdha9 |
T |
C |
18: 37,131,426 (GRCm39) |
V165A |
probably benign |
Het |
Pcsk6 |
A |
G |
7: 65,618,745 (GRCm39) |
H437R |
probably damaging |
Het |
Pfas |
C |
T |
11: 68,884,149 (GRCm39) |
V589M |
probably damaging |
Het |
Prpf40a |
A |
G |
2: 53,046,746 (GRCm39) |
V288A |
possibly damaging |
Het |
Rnf183 |
T |
C |
4: 62,346,387 (GRCm39) |
D137G |
probably benign |
Het |
Rsph6a |
A |
G |
7: 18,788,820 (GRCm39) |
S51G |
probably benign |
Het |
Scap |
G |
A |
9: 110,210,640 (GRCm39) |
A991T |
possibly damaging |
Het |
Sdk2 |
C |
A |
11: 113,724,005 (GRCm39) |
V1222F |
probably damaging |
Het |
Sdr16c6 |
T |
A |
4: 4,063,232 (GRCm39) |
N181I |
possibly damaging |
Het |
Semp2l2a |
A |
T |
8: 13,887,713 (GRCm39) |
M126K |
possibly damaging |
Het |
Serpinb7 |
A |
T |
1: 107,356,037 (GRCm39) |
D20V |
probably damaging |
Het |
Sh3bp2 |
C |
A |
5: 34,718,392 (GRCm39) |
R531S |
possibly damaging |
Het |
Skint8 |
C |
A |
4: 111,807,390 (GRCm39) |
L359M |
probably damaging |
Het |
Sox2 |
A |
G |
3: 34,704,677 (GRCm39) |
N38S |
probably benign |
Het |
Spg7 |
C |
A |
8: 123,821,314 (GRCm39) |
Q680K |
possibly damaging |
Het |
Styk1 |
T |
C |
6: 131,277,381 (GRCm39) |
E331G |
possibly damaging |
Het |
Tkfc |
G |
A |
19: 10,571,897 (GRCm39) |
R380W |
probably benign |
Het |
Trib3 |
A |
G |
2: 152,180,410 (GRCm39) |
F261S |
probably damaging |
Het |
Ubr1 |
T |
A |
2: 120,793,998 (GRCm39) |
Q62L |
possibly damaging |
Het |
Vmn2r54 |
T |
C |
7: 12,349,296 (GRCm39) |
Y762C |
probably benign |
Het |
Vmn2r97 |
T |
A |
17: 19,167,628 (GRCm39) |
Y627* |
probably null |
Het |
Zfp12 |
A |
G |
5: 143,231,451 (GRCm39) |
K625E |
probably damaging |
Het |
Zw10 |
T |
C |
9: 48,968,950 (GRCm39) |
V38A |
probably damaging |
Het |
|
Other mutations in Cobll1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00789:Cobll1
|
APN |
2 |
64,956,357 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01074:Cobll1
|
APN |
2 |
64,938,192 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01093:Cobll1
|
APN |
2 |
64,928,581 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02411:Cobll1
|
APN |
2 |
64,928,084 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02419:Cobll1
|
APN |
2 |
64,981,392 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02550:Cobll1
|
APN |
2 |
64,938,207 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02607:Cobll1
|
APN |
2 |
64,981,429 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02829:Cobll1
|
APN |
2 |
64,956,389 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02802:Cobll1
|
UTSW |
2 |
64,928,663 (GRCm39) |
missense |
probably damaging |
0.99 |
R0313:Cobll1
|
UTSW |
2 |
64,926,088 (GRCm39) |
nonsense |
probably null |
|
R0314:Cobll1
|
UTSW |
2 |
64,919,865 (GRCm39) |
missense |
possibly damaging |
0.81 |
R0322:Cobll1
|
UTSW |
2 |
64,932,442 (GRCm39) |
missense |
possibly damaging |
0.84 |
R0846:Cobll1
|
UTSW |
2 |
64,932,409 (GRCm39) |
splice site |
probably null |
|
R1163:Cobll1
|
UTSW |
2 |
64,928,623 (GRCm39) |
missense |
probably damaging |
0.96 |
R1242:Cobll1
|
UTSW |
2 |
64,981,513 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1364:Cobll1
|
UTSW |
2 |
64,956,654 (GRCm39) |
splice site |
probably benign |
|
R1445:Cobll1
|
UTSW |
2 |
64,929,480 (GRCm39) |
missense |
probably damaging |
1.00 |
R1610:Cobll1
|
UTSW |
2 |
64,963,986 (GRCm39) |
missense |
probably damaging |
1.00 |
R1836:Cobll1
|
UTSW |
2 |
64,956,580 (GRCm39) |
missense |
probably damaging |
1.00 |
R2102:Cobll1
|
UTSW |
2 |
64,928,554 (GRCm39) |
missense |
probably damaging |
1.00 |
R3154:Cobll1
|
UTSW |
2 |
64,937,394 (GRCm39) |
missense |
probably benign |
0.00 |
R4580:Cobll1
|
UTSW |
2 |
64,981,417 (GRCm39) |
missense |
probably benign |
0.00 |
R4638:Cobll1
|
UTSW |
2 |
64,929,581 (GRCm39) |
missense |
probably benign |
0.03 |
R4684:Cobll1
|
UTSW |
2 |
64,929,372 (GRCm39) |
missense |
possibly damaging |
0.90 |
R4906:Cobll1
|
UTSW |
2 |
64,928,037 (GRCm39) |
missense |
probably benign |
0.01 |
R4923:Cobll1
|
UTSW |
2 |
64,929,602 (GRCm39) |
missense |
possibly damaging |
0.87 |
R5100:Cobll1
|
UTSW |
2 |
64,956,245 (GRCm39) |
missense |
probably benign |
0.26 |
R5269:Cobll1
|
UTSW |
2 |
64,964,115 (GRCm39) |
nonsense |
probably null |
|
R5419:Cobll1
|
UTSW |
2 |
64,933,701 (GRCm39) |
missense |
possibly damaging |
0.57 |
R5745:Cobll1
|
UTSW |
2 |
64,928,801 (GRCm39) |
missense |
probably damaging |
0.99 |
R5777:Cobll1
|
UTSW |
2 |
64,933,612 (GRCm39) |
missense |
probably benign |
0.27 |
R6303:Cobll1
|
UTSW |
2 |
64,928,377 (GRCm39) |
missense |
possibly damaging |
0.68 |
R6471:Cobll1
|
UTSW |
2 |
64,938,228 (GRCm39) |
missense |
probably damaging |
1.00 |
R7027:Cobll1
|
UTSW |
2 |
64,919,847 (GRCm39) |
missense |
probably benign |
0.00 |
R7132:Cobll1
|
UTSW |
2 |
64,964,112 (GRCm39) |
missense |
probably damaging |
1.00 |
R7197:Cobll1
|
UTSW |
2 |
64,928,882 (GRCm39) |
missense |
probably benign |
0.00 |
R7365:Cobll1
|
UTSW |
2 |
64,928,717 (GRCm39) |
missense |
probably damaging |
0.99 |
R7607:Cobll1
|
UTSW |
2 |
64,926,201 (GRCm39) |
missense |
probably benign |
0.02 |
R7899:Cobll1
|
UTSW |
2 |
64,956,275 (GRCm39) |
missense |
probably damaging |
1.00 |
R7996:Cobll1
|
UTSW |
2 |
64,981,329 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8175:Cobll1
|
UTSW |
2 |
64,929,575 (GRCm39) |
missense |
probably benign |
|
R8212:Cobll1
|
UTSW |
2 |
64,932,424 (GRCm39) |
missense |
probably benign |
0.08 |
R8549:Cobll1
|
UTSW |
2 |
64,928,794 (GRCm39) |
missense |
probably damaging |
1.00 |
R8832:Cobll1
|
UTSW |
2 |
64,929,602 (GRCm39) |
missense |
probably damaging |
1.00 |
R9189:Cobll1
|
UTSW |
2 |
64,981,333 (GRCm39) |
missense |
probably damaging |
1.00 |
R9253:Cobll1
|
UTSW |
2 |
64,981,503 (GRCm39) |
missense |
probably benign |
0.10 |
R9273:Cobll1
|
UTSW |
2 |
64,929,356 (GRCm39) |
missense |
probably damaging |
1.00 |
R9309:Cobll1
|
UTSW |
2 |
64,956,271 (GRCm39) |
missense |
probably damaging |
0.96 |
R9332:Cobll1
|
UTSW |
2 |
64,933,516 (GRCm39) |
missense |
probably benign |
|
R9469:Cobll1
|
UTSW |
2 |
64,966,774 (GRCm39) |
missense |
probably damaging |
1.00 |
X0020:Cobll1
|
UTSW |
2 |
64,933,666 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CCTTGCCAGTAACTATTCTACTGAG -3'
(R):5'- GTCCATCTTTCACGAGGTCC -3'
Sequencing Primer
(F):5'- TGGTTACAAGCCACCATGTG -3'
(R):5'- TCTTTCACGAGGTCCAACAC -3'
|
Posted On |
2016-11-08 |