Incidental Mutation 'R9507:Ccdc191'
| ID |
717901 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc191
|
| Ensembl Gene |
ENSMUSG00000022701 |
| Gene Name |
coiled-coil domain containing 191 |
| Synonyms |
2610015P09Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.165)
|
| Stock # |
R9507 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
43710172-43784677 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 43764192 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 551
(L551P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137597
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000132859]
[ENSMUST00000178400]
|
| AlphaFold |
J3QQ27 |
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000113814
Gene: ENSMUSG00000022701
AA Change: L136P
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
114 |
147 |
N/A |
INTRINSIC |
|
coiled coil region
|
211 |
284 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000132859
AA Change: L493P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116078
Gene: ENSMUSG00000022701
AA Change: L493P
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
144 |
183 |
N/A |
INTRINSIC |
|
coiled coil region
|
217 |
237 |
N/A |
INTRINSIC |
|
coiled coil region
|
278 |
308 |
N/A |
INTRINSIC |
|
low complexity region
|
349 |
368 |
N/A |
INTRINSIC |
|
coiled coil region
|
471 |
504 |
N/A |
INTRINSIC |
|
coiled coil region
|
568 |
641 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000178400
AA Change: L551P
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000137597
Gene: ENSMUSG00000022701
AA Change: L551P
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
202 |
241 |
N/A |
INTRINSIC |
|
coiled coil region
|
275 |
295 |
N/A |
INTRINSIC |
|
coiled coil region
|
336 |
366 |
N/A |
INTRINSIC |
|
low complexity region
|
407 |
426 |
N/A |
INTRINSIC |
|
coiled coil region
|
529 |
562 |
N/A |
INTRINSIC |
|
coiled coil region
|
626 |
699 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810009A15Rik |
A |
G |
19: 8,866,587 (GRCm39) |
T47A |
probably damaging |
Het |
| Acsm2 |
A |
T |
7: 119,179,939 (GRCm39) |
I386F |
probably benign |
Het |
| Actn4 |
A |
T |
7: 28,606,397 (GRCm39) |
D305E |
probably benign |
Het |
| Anln |
A |
G |
9: 22,274,136 (GRCm39) |
V567A |
probably damaging |
Het |
| Arhgap35 |
A |
G |
7: 16,297,343 (GRCm39) |
I574T |
probably benign |
Het |
| Baz1b |
C |
A |
5: 135,233,971 (GRCm39) |
S166Y |
probably damaging |
Het |
| Cdk5rap2 |
T |
C |
4: 70,210,110 (GRCm39) |
T713A |
probably benign |
Het |
| Cep290 |
C |
A |
10: 100,330,785 (GRCm39) |
A155E |
possibly damaging |
Het |
| Chst8 |
G |
A |
7: 34,447,496 (GRCm39) |
Q41* |
probably null |
Het |
| Cyp2j6 |
C |
A |
4: 96,406,344 (GRCm39) |
E476* |
probably null |
Het |
| Des |
T |
C |
1: 75,343,434 (GRCm39) |
V439A |
probably benign |
Het |
| Dimt1 |
A |
G |
13: 107,093,656 (GRCm39) |
T283A |
probably benign |
Het |
| Dmxl1 |
T |
A |
18: 50,024,567 (GRCm39) |
V1747D |
possibly damaging |
Het |
| Fhod1 |
G |
A |
8: 106,064,694 (GRCm39) |
R137* |
probably null |
Het |
| Gab2 |
A |
T |
7: 96,953,448 (GRCm39) |
D608V |
probably damaging |
Het |
| Gdpd1 |
T |
C |
11: 86,950,264 (GRCm39) |
D103G |
possibly damaging |
Het |
| Hspa5 |
T |
C |
2: 34,664,610 (GRCm39) |
S355P |
probably benign |
Het |
| Ide |
A |
T |
19: 37,265,536 (GRCm39) |
F619L |
|
Het |
| Ifrd1 |
A |
C |
12: 40,267,225 (GRCm39) |
D70E |
probably benign |
Het |
| Il18r1 |
T |
A |
1: 40,513,884 (GRCm39) |
V30E |
probably damaging |
Het |
| Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
| Kcng1 |
A |
G |
2: 168,111,152 (GRCm39) |
L4S |
probably damaging |
Het |
| Lrfn4 |
A |
G |
19: 4,664,357 (GRCm39) |
F59S |
probably damaging |
Het |
| Lrrc15 |
T |
C |
16: 30,092,829 (GRCm39) |
D170G |
probably damaging |
Het |
| Mettl21e |
T |
A |
1: 44,245,536 (GRCm39) |
M237L |
probably benign |
Het |
| Myh1 |
A |
G |
11: 67,102,049 (GRCm39) |
K810E |
probably benign |
Het |
| Nbea |
T |
C |
3: 55,573,011 (GRCm39) |
D2524G |
probably damaging |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Nutm2 |
A |
T |
13: 50,621,455 (GRCm39) |
T7S |
probably benign |
Het |
| Or10g3b |
A |
T |
14: 52,586,678 (GRCm39) |
L275H |
probably damaging |
Het |
| Or2a5 |
G |
T |
6: 42,873,835 (GRCm39) |
C150F |
probably benign |
Het |
| Or2t49 |
T |
C |
11: 58,392,576 (GRCm39) |
T275A |
possibly damaging |
Het |
| Or51q1 |
T |
G |
7: 103,629,198 (GRCm39) |
F266L |
probably damaging |
Het |
| Or6k2 |
T |
A |
1: 173,986,552 (GRCm39) |
I71K |
possibly damaging |
Het |
| Or7a39 |
A |
G |
10: 78,715,597 (GRCm39) |
H197R |
probably benign |
Het |
| Pate4 |
A |
G |
9: 35,519,538 (GRCm39) |
S51P |
probably damaging |
Het |
| Rbm19 |
T |
C |
5: 120,265,232 (GRCm39) |
|
probably null |
Het |
| Rnf139 |
A |
G |
15: 58,770,664 (GRCm39) |
K230E |
probably damaging |
Het |
| Rpia |
G |
A |
6: 70,754,377 (GRCm39) |
Q134* |
probably null |
Het |
| Rsf1 |
GC |
GCGGCGGCGCC |
7: 97,229,141 (GRCm39) |
|
probably benign |
Het |
| Sbk2 |
G |
A |
7: 4,960,277 (GRCm39) |
P298S |
possibly damaging |
Het |
| Scrt1 |
A |
G |
15: 76,403,292 (GRCm39) |
S233P |
unknown |
Het |
| Sh2b1 |
CGGGGACCAGCTC |
CGGGGACCAGCTCAGCCAAGGGGACCAGCTC |
7: 126,066,760 (GRCm39) |
|
probably benign |
Het |
| Sppl2c |
T |
A |
11: 104,078,153 (GRCm39) |
Y318N |
probably benign |
Het |
| St6galnac4 |
G |
A |
2: 32,485,739 (GRCm39) |
W215* |
probably null |
Het |
| Stxbp6 |
A |
G |
12: 45,066,360 (GRCm39) |
L15P |
probably benign |
Het |
| Tmem104 |
T |
C |
11: 115,091,699 (GRCm39) |
L74P |
probably damaging |
Het |
| Tnfrsf10b |
A |
G |
14: 70,015,221 (GRCm39) |
D233G |
probably benign |
Het |
| Trmt11 |
A |
C |
10: 30,434,938 (GRCm39) |
Y369* |
probably null |
Het |
| Tusc1 |
T |
A |
4: 93,223,245 (GRCm39) |
H138L |
probably benign |
Het |
| Ush2a |
T |
A |
1: 188,596,937 (GRCm39) |
Y3892* |
probably null |
Het |
| Xirp2 |
A |
T |
2: 67,344,280 (GRCm39) |
I2174F |
possibly damaging |
Het |
| Zfp947 |
C |
T |
17: 22,364,582 (GRCm39) |
G364D |
probably benign |
Het |
|
| Other mutations in Ccdc191 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01629:Ccdc191
|
APN |
16 |
43,779,663 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL02272:Ccdc191
|
APN |
16 |
43,780,385 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02473:Ccdc191
|
APN |
16 |
43,777,257 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02660:Ccdc191
|
APN |
16 |
43,780,462 (GRCm39) |
missense |
probably benign |
0.11 |
|
LCD18:Ccdc191
|
UTSW |
16 |
43,742,164 (GRCm39) |
intron |
probably benign |
|
|
R0238:Ccdc191
|
UTSW |
16 |
43,767,859 (GRCm39) |
nonsense |
probably null |
|
|
R0238:Ccdc191
|
UTSW |
16 |
43,767,859 (GRCm39) |
nonsense |
probably null |
|
|
R0346:Ccdc191
|
UTSW |
16 |
43,759,315 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0590:Ccdc191
|
UTSW |
16 |
43,751,704 (GRCm39) |
nonsense |
probably null |
|
|
R0907:Ccdc191
|
UTSW |
16 |
43,735,901 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0930:Ccdc191
|
UTSW |
16 |
43,751,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1761:Ccdc191
|
UTSW |
16 |
43,763,873 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2127:Ccdc191
|
UTSW |
16 |
43,728,998 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2408:Ccdc191
|
UTSW |
16 |
43,751,561 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2567:Ccdc191
|
UTSW |
16 |
43,764,330 (GRCm39) |
splice site |
probably null |
|
|
R3104:Ccdc191
|
UTSW |
16 |
43,751,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3105:Ccdc191
|
UTSW |
16 |
43,751,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3106:Ccdc191
|
UTSW |
16 |
43,751,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4319:Ccdc191
|
UTSW |
16 |
43,767,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4320:Ccdc191
|
UTSW |
16 |
43,767,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4323:Ccdc191
|
UTSW |
16 |
43,767,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4324:Ccdc191
|
UTSW |
16 |
43,767,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4667:Ccdc191
|
UTSW |
16 |
43,751,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4676:Ccdc191
|
UTSW |
16 |
43,759,536 (GRCm39) |
splice site |
probably benign |
|
|
R4788:Ccdc191
|
UTSW |
16 |
43,777,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4976:Ccdc191
|
UTSW |
16 |
43,763,868 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5557:Ccdc191
|
UTSW |
16 |
43,728,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6369:Ccdc191
|
UTSW |
16 |
43,735,848 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7459:Ccdc191
|
UTSW |
16 |
43,767,820 (GRCm39) |
nonsense |
probably null |
|
|
R7543:Ccdc191
|
UTSW |
16 |
43,718,572 (GRCm39) |
nonsense |
probably null |
|
|
R7843:Ccdc191
|
UTSW |
16 |
43,779,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8077:Ccdc191
|
UTSW |
16 |
43,735,968 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8474:Ccdc191
|
UTSW |
16 |
43,710,262 (GRCm39) |
start gained |
probably benign |
|
|
R8984:Ccdc191
|
UTSW |
16 |
43,710,581 (GRCm39) |
intron |
probably benign |
|
|
R8987:Ccdc191
|
UTSW |
16 |
43,751,710 (GRCm39) |
missense |
probably benign |
0.29 |
|
R9108:Ccdc191
|
UTSW |
16 |
43,718,512 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9222:Ccdc191
|
UTSW |
16 |
43,725,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9276:Ccdc191
|
UTSW |
16 |
43,764,041 (GRCm39) |
nonsense |
probably null |
|
|
R9448:Ccdc191
|
UTSW |
16 |
43,759,338 (GRCm39) |
missense |
|
|
|
R9757:Ccdc191
|
UTSW |
16 |
43,762,170 (GRCm39) |
missense |
|
|
|
Z1177:Ccdc191
|
UTSW |
16 |
43,759,485 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTAATTGTCAGGGTCCTCTC -3'
(R):5'- AACACATTCCGAGTGCTGTG -3'
Sequencing Primer
(F):5'- AGATGTCTCTGGGAGCACAC -3'
(R):5'- GTGACCCTGCTGACATACTTCAG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation