Incidental Mutation 'R3053:Cibar1'
| ID |
265024 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cibar1
|
| Ensembl Gene |
ENSMUSG00000028218 |
| Gene Name |
CBY1 interacting BAR domain containing 1 |
| Synonyms |
Fam92a, 6720467C03Rik |
| MMRRC Submission |
040562-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3053 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
12153409-12172015 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to C
at 12157767 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135961
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087052]
[ENSMUST00000108285]
[ENSMUST00000108285]
[ENSMUST00000177837]
[ENSMUST00000177837]
|
| AlphaFold |
Q8BP22 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000087052
|
| SMART Domains |
Protein: ENSMUSP00000084284
Gene: ENSMUSG00000028218
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAM92
|
70 |
284 |
2.2e-118 |
PFAM |
|
low complexity region
|
333 |
350 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000108285
|
| SMART Domains |
Protein: ENSMUSP00000103920
Gene: ENSMUSG00000028218
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAM92
|
70 |
288 |
4.9e-127 |
PFAM |
|
low complexity region
|
337 |
354 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000108285
|
| SMART Domains |
Protein: ENSMUSP00000103920
Gene: ENSMUSG00000028218
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAM92
|
70 |
288 |
4.9e-127 |
PFAM |
|
low complexity region
|
337 |
354 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000154416
|
| SMART Domains |
Protein: ENSMUSP00000120369
Gene: ENSMUSG00000028218
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAM92
|
1 |
197 |
7.5e-95 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000154416
|
| SMART Domains |
Protein: ENSMUSP00000120369
Gene: ENSMUSG00000028218
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAM92
|
1 |
197 |
7.5e-95 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172728
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000177837
|
| SMART Domains |
Protein: ENSMUSP00000135961
Gene: ENSMUSG00000028218
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAM92
|
70 |
288 |
4.2e-109 |
PFAM |
|
low complexity region
|
337 |
354 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000177837
|
| SMART Domains |
Protein: ENSMUSP00000135961
Gene: ENSMUSG00000028218
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAM92
|
70 |
288 |
4.2e-109 |
PFAM |
|
low complexity region
|
337 |
354 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
100% (37/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy5 |
T |
C |
16: 35,124,086 (GRCm39) |
L1255P |
probably damaging |
Het |
| Agl |
T |
A |
3: 116,584,682 (GRCm39) |
I213F |
probably damaging |
Het |
| Arap2 |
A |
G |
5: 62,906,200 (GRCm39) |
V273A |
probably benign |
Het |
| Asb18 |
T |
A |
1: 89,920,707 (GRCm39) |
H149L |
probably damaging |
Het |
| Axdnd1 |
T |
C |
1: 156,169,440 (GRCm39) |
T809A |
probably damaging |
Het |
| Bcl11b |
T |
C |
12: 107,882,260 (GRCm39) |
E613G |
probably benign |
Het |
| Cldn8 |
A |
C |
16: 88,359,619 (GRCm39) |
M102R |
probably damaging |
Het |
| Cyp2a5 |
A |
G |
7: 26,542,410 (GRCm39) |
I471V |
possibly damaging |
Het |
| Dmtf1 |
G |
T |
5: 9,179,316 (GRCm39) |
T206K |
probably damaging |
Het |
| Dner |
G |
T |
1: 84,361,747 (GRCm39) |
Q621K |
probably damaging |
Het |
| Gmppa |
A |
G |
1: 75,418,400 (GRCm39) |
Y261C |
probably benign |
Het |
| Lama5 |
C |
T |
2: 179,824,860 (GRCm39) |
R2519K |
probably damaging |
Het |
| Mical2 |
G |
T |
7: 111,910,630 (GRCm39) |
A267S |
probably damaging |
Het |
| Nrxn3 |
A |
T |
12: 89,221,871 (GRCm39) |
D550V |
probably damaging |
Het |
| Or1n1 |
T |
A |
2: 36,749,959 (GRCm39) |
M134L |
probably benign |
Het |
| Pole |
A |
T |
5: 110,437,661 (GRCm39) |
D73V |
probably damaging |
Het |
| Ppm1b |
G |
A |
17: 85,321,274 (GRCm39) |
R472K |
probably benign |
Het |
| Ppm1m |
A |
G |
9: 106,075,874 (GRCm39) |
I18T |
probably benign |
Het |
| Psg18 |
C |
T |
7: 18,083,118 (GRCm39) |
G225R |
probably damaging |
Het |
| R3hcc1l |
T |
G |
19: 42,551,064 (GRCm39) |
Y20* |
probably null |
Het |
| Rapgef1 |
T |
C |
2: 29,614,868 (GRCm39) |
I817T |
probably damaging |
Het |
| Rasal3 |
T |
C |
17: 32,622,413 (GRCm39) |
E4G |
probably benign |
Het |
| Ryr1 |
A |
T |
7: 28,752,515 (GRCm39) |
V3598E |
probably damaging |
Het |
| Slc15a4 |
A |
T |
5: 127,673,746 (GRCm39) |
V556E |
possibly damaging |
Het |
| Spats2l |
A |
G |
1: 57,939,925 (GRCm39) |
K193R |
probably damaging |
Het |
| Tacc2 |
G |
A |
7: 130,227,226 (GRCm39) |
E1323K |
possibly damaging |
Het |
| Tbc1d21 |
T |
A |
9: 58,270,352 (GRCm39) |
D141V |
probably damaging |
Het |
| Tedc1 |
G |
T |
12: 113,120,087 (GRCm39) |
|
probably benign |
Het |
| Terf2 |
A |
C |
8: 107,806,016 (GRCm39) |
L312R |
possibly damaging |
Het |
| Tmem132d |
A |
C |
5: 127,869,538 (GRCm39) |
S599A |
probably benign |
Het |
| Trp53bp2 |
T |
C |
1: 182,281,347 (GRCm39) |
F983L |
probably damaging |
Het |
| Ubxn2a |
T |
A |
12: 4,941,322 (GRCm39) |
K95* |
probably null |
Het |
| Ugt2a2 |
A |
T |
5: 87,622,328 (GRCm39) |
N213K |
probably damaging |
Het |
| Xpo6 |
T |
C |
7: 125,703,893 (GRCm39) |
N1086D |
probably damaging |
Het |
| Zbed5 |
A |
T |
5: 129,930,987 (GRCm39) |
H312L |
possibly damaging |
Het |
| Zfp729b |
A |
G |
13: 67,741,585 (GRCm39) |
Y227H |
probably damaging |
Het |
|
| Other mutations in Cibar1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02514:Cibar1
|
APN |
4 |
12,164,080 (GRCm39) |
splice site |
probably benign |
|
|
R0558:Cibar1
|
UTSW |
4 |
12,164,095 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0616:Cibar1
|
UTSW |
4 |
12,168,234 (GRCm39) |
nonsense |
probably null |
|
|
R1581:Cibar1
|
UTSW |
4 |
12,155,745 (GRCm39) |
splice site |
probably null |
|
|
R1862:Cibar1
|
UTSW |
4 |
12,155,717 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R2027:Cibar1
|
UTSW |
4 |
12,171,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2185:Cibar1
|
UTSW |
4 |
12,169,041 (GRCm39) |
splice site |
probably benign |
|
|
R2212:Cibar1
|
UTSW |
4 |
12,171,696 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4441:Cibar1
|
UTSW |
4 |
12,157,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4771:Cibar1
|
UTSW |
4 |
12,155,689 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5290:Cibar1
|
UTSW |
4 |
12,171,195 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5928:Cibar1
|
UTSW |
4 |
12,171,919 (GRCm39) |
unclassified |
probably benign |
|
|
R6529:Cibar1
|
UTSW |
4 |
12,168,978 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6909:Cibar1
|
UTSW |
4 |
12,168,309 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8182:Cibar1
|
UTSW |
4 |
12,171,842 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8292:Cibar1
|
UTSW |
4 |
12,153,963 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACAAAAGAGCAGTACTTTGGG -3'
(R):5'- CAGTGAATAGTGAGTATAGCAACAC -3'
Sequencing Primer
(F):5'- AGAGCAGTACTTTGGGTTACAC -3'
(R):5'- CACTTTGCACAATTTAAGTATTTTGC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation