Incidental Mutation 'R3761:Ccdc91'
| ID |
270535 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc91
|
| Ensembl Gene |
ENSMUSG00000030301 |
| Gene Name |
coiled-coil domain containing 91 |
| Synonyms |
p56, 1810060J02Rik, 1700086G08Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.109)
|
| Stock # |
R3761 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
147377326-147534110 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 147464200 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 216
(D216V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032441
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032441]
|
| AlphaFold |
Q9D8L5 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000032441
AA Change: D216V
|
| SMART Domains |
Protein: ENSMUSP00000032441
Gene: ENSMUSG00000030301
AA Change: D216V
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
130 |
207 |
N/A |
INTRINSIC |
|
coiled coil region
|
253 |
319 |
N/A |
INTRINSIC |
|
low complexity region
|
349 |
365 |
N/A |
INTRINSIC |
|
coiled coil region
|
376 |
407 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Als2cl |
A |
G |
9: 110,727,202 (GRCm39) |
T923A |
probably damaging |
Het |
| Clstn3 |
A |
G |
6: 124,434,835 (GRCm39) |
V360A |
possibly damaging |
Het |
| Ct45a |
C |
T |
X: 55,590,568 (GRCm39) |
V78I |
probably benign |
Het |
| Ehmt2 |
A |
G |
17: 35,132,707 (GRCm39) |
I1235V |
probably damaging |
Het |
| Eif3e |
C |
T |
15: 43,124,480 (GRCm39) |
R346H |
probably damaging |
Het |
| Esrp2 |
T |
C |
8: 106,860,254 (GRCm39) |
D301G |
probably damaging |
Het |
| Fam174a |
G |
T |
1: 95,241,971 (GRCm39) |
V144F |
probably damaging |
Het |
| Fbxo31 |
A |
T |
8: 122,287,169 (GRCm39) |
W135R |
possibly damaging |
Het |
| Heatr5b |
A |
G |
17: 79,137,071 (GRCm39) |
S150P |
probably damaging |
Het |
| Il16 |
A |
G |
7: 83,300,093 (GRCm39) |
L400S |
possibly damaging |
Het |
| Or10d1c |
A |
T |
9: 38,893,662 (GRCm39) |
I226N |
possibly damaging |
Het |
| Ryr3 |
A |
G |
2: 112,585,258 (GRCm39) |
F2776S |
probably benign |
Het |
| Sema3d |
T |
C |
5: 12,621,004 (GRCm39) |
Y537H |
probably damaging |
Het |
| Sh3pxd2b |
T |
C |
11: 32,372,750 (GRCm39) |
V639A |
probably benign |
Het |
| Slc39a10 |
A |
G |
1: 46,851,285 (GRCm39) |
V735A |
possibly damaging |
Het |
| Slc45a2 |
T |
A |
15: 11,012,800 (GRCm39) |
Y268N |
probably benign |
Het |
| Tmco5 |
A |
G |
2: 116,717,787 (GRCm39) |
|
probably null |
Het |
| Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
| Wwp1 |
A |
T |
4: 19,631,085 (GRCm39) |
H649Q |
probably damaging |
Het |
|
| Other mutations in Ccdc91 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00428:Ccdc91
|
APN |
6 |
147,508,452 (GRCm39) |
missense |
unknown |
|
|
IGL00497:Ccdc91
|
APN |
6 |
147,508,485 (GRCm39) |
missense |
unknown |
|
|
IGL00795:Ccdc91
|
APN |
6 |
147,409,305 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1495:Ccdc91
|
UTSW |
6 |
147,435,670 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1725:Ccdc91
|
UTSW |
6 |
147,493,541 (GRCm39) |
missense |
unknown |
|
|
R4246:Ccdc91
|
UTSW |
6 |
147,493,646 (GRCm39) |
missense |
unknown |
|
|
R4591:Ccdc91
|
UTSW |
6 |
147,491,963 (GRCm39) |
missense |
unknown |
|
|
R4797:Ccdc91
|
UTSW |
6 |
147,493,641 (GRCm39) |
missense |
unknown |
|
|
R5719:Ccdc91
|
UTSW |
6 |
147,477,001 (GRCm39) |
missense |
unknown |
|
|
R5721:Ccdc91
|
UTSW |
6 |
147,477,001 (GRCm39) |
missense |
unknown |
|
|
R6092:Ccdc91
|
UTSW |
6 |
147,437,114 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7156:Ccdc91
|
UTSW |
6 |
147,435,676 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7393:Ccdc91
|
UTSW |
6 |
147,435,527 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7411:Ccdc91
|
UTSW |
6 |
147,493,696 (GRCm39) |
nonsense |
probably null |
|
|
R7576:Ccdc91
|
UTSW |
6 |
147,491,957 (GRCm39) |
missense |
unknown |
|
|
R8165:Ccdc91
|
UTSW |
6 |
147,533,086 (GRCm39) |
missense |
unknown |
|
|
R8311:Ccdc91
|
UTSW |
6 |
147,437,114 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R8406:Ccdc91
|
UTSW |
6 |
147,438,920 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R8748:Ccdc91
|
UTSW |
6 |
147,464,194 (GRCm39) |
missense |
unknown |
|
|
R8922:Ccdc91
|
UTSW |
6 |
147,412,358 (GRCm39) |
nonsense |
probably null |
|
|
R9210:Ccdc91
|
UTSW |
6 |
147,508,398 (GRCm39) |
missense |
unknown |
|
|
R9212:Ccdc91
|
UTSW |
6 |
147,508,398 (GRCm39) |
missense |
unknown |
|
|
X0027:Ccdc91
|
UTSW |
6 |
147,492,137 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTAGTGTTTAGCATGCTACCAGG -3'
(R):5'- TTCAGTCCAAAGCAAGGAGTC -3'
Sequencing Primer
(F):5'- TTAGCATGCTACCAGGATATAAAAGG -3'
(R):5'- TGAGCCACAATGGACCTTC -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation