Incidental Mutation 'R2409:Cib2'
| ID |
248131 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cib2
|
| Ensembl Gene |
ENSMUSG00000037493 |
| Gene Name |
calcium and integrin binding family member 2 |
| Synonyms |
2810434I23Rik, calcium binding protein Kip2 |
| MMRRC Submission |
040375-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2409 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
54452078-54467502 bp(-) (GRCm39) |
| Type of Mutation |
splice site (1813 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 54452751 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113298
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041901]
[ENSMUST00000060242]
[ENSMUST00000118413]
|
| AlphaFold |
Q9Z309 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041901
AA Change: I187T
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000038527
Gene: ENSMUSG00000037493
AA Change: I187T
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
73 |
98 |
8.33e1 |
SMART |
|
EFh
|
107 |
135 |
5.38e0 |
SMART |
|
EFh
|
148 |
176 |
3.3e-2 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000060242
|
| SMART Domains |
Protein: ENSMUSP00000053690
Gene: ENSMUSG00000046460
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SH2
|
1 |
51 |
7e-6 |
BLAST |
|
low complexity region
|
165 |
176 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000118413
|
| SMART Domains |
Protein: ENSMUSP00000113298
Gene: ENSMUSG00000046460
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SH2
|
1 |
51 |
7e-6 |
BLAST |
|
low complexity region
|
165 |
176 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1992 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 94.0%
|
| Validation Efficiency |
100% (32/32) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is similar to that of KIP/CIB, calcineurin B, and calmodulin. The encoded protein is a calcium-binding regulatory protein that interacts with DNA-dependent protein kinase catalytic subunits (DNA-PKcs), and it is involved in photoreceptor cell maintenance. Mutations in this gene cause deafness, autosomal recessive, 48 (DFNB48), and also Usher syndrome 1J (USH1J). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
C |
T |
5: 8,788,747 (GRCm39) |
T1042I |
probably benign |
Het |
| Adamts13 |
A |
G |
2: 26,868,374 (GRCm39) |
T162A |
probably benign |
Het |
| Adamts7 |
T |
A |
9: 90,062,740 (GRCm39) |
I398N |
probably damaging |
Het |
| Cyp3a16 |
T |
C |
5: 145,377,177 (GRCm39) |
K470R |
probably benign |
Het |
| Dpy19l2 |
A |
G |
9: 24,569,924 (GRCm39) |
M343T |
probably benign |
Het |
| Dyrk2 |
A |
G |
10: 118,696,532 (GRCm39) |
V242A |
probably benign |
Het |
| Extl3 |
T |
C |
14: 65,315,017 (GRCm39) |
D55G |
probably benign |
Het |
| Fabp7 |
A |
G |
10: 57,661,772 (GRCm39) |
K82E |
possibly damaging |
Het |
| Fat1 |
G |
T |
8: 45,493,567 (GRCm39) |
|
probably benign |
Het |
| Gen1 |
A |
G |
12: 11,299,165 (GRCm39) |
I280T |
possibly damaging |
Het |
| Gm5117 |
T |
C |
8: 32,227,306 (GRCm39) |
|
noncoding transcript |
Het |
| Gucy1b2 |
CCGTGTTT |
C |
14: 62,643,628 (GRCm39) |
|
probably null |
Het |
| Il3ra |
G |
A |
14: 14,349,377 (GRCm38) |
|
probably null |
Het |
| Myo1f |
A |
G |
17: 33,795,641 (GRCm39) |
N66D |
probably damaging |
Het |
| Nfkb1 |
C |
T |
3: 135,319,704 (GRCm39) |
E264K |
possibly damaging |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Or7d10 |
G |
T |
9: 19,832,072 (GRCm39) |
R189L |
probably benign |
Het |
| Or7d10 |
G |
C |
9: 19,832,077 (GRCm39) |
D191H |
probably damaging |
Het |
| Prdm10 |
A |
G |
9: 31,260,418 (GRCm39) |
H624R |
possibly damaging |
Het |
| Rgs5 |
G |
T |
1: 169,504,451 (GRCm39) |
V34F |
possibly damaging |
Het |
| Sec14l4 |
T |
C |
11: 3,990,048 (GRCm39) |
S116P |
probably benign |
Het |
| Septin1 |
T |
C |
7: 126,815,143 (GRCm39) |
|
probably null |
Het |
| Septin9 |
T |
A |
11: 117,251,287 (GRCm39) |
I535N |
probably damaging |
Het |
| Sh2b1 |
C |
T |
7: 126,070,651 (GRCm39) |
G350D |
probably damaging |
Het |
| Slc6a21 |
T |
C |
7: 44,929,750 (GRCm39) |
V107A |
probably benign |
Het |
| Trim26 |
C |
A |
17: 37,161,895 (GRCm39) |
H105N |
probably damaging |
Het |
| Trim71 |
A |
T |
9: 114,342,781 (GRCm39) |
D500E |
possibly damaging |
Het |
| Vmn2r78 |
T |
A |
7: 86,569,953 (GRCm39) |
|
probably benign |
Het |
| Vmn2r84 |
A |
G |
10: 130,227,940 (GRCm39) |
S99P |
probably damaging |
Het |
|
| Other mutations in Cib2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01780:Cib2
|
APN |
9 |
54,457,170 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01868:Cib2
|
APN |
9 |
54,455,759 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02350:Cib2
|
APN |
9 |
54,457,170 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02357:Cib2
|
APN |
9 |
54,457,170 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02656:Cib2
|
APN |
9 |
54,453,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4377001:Cib2
|
UTSW |
9 |
54,467,271 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0617:Cib2
|
UTSW |
9 |
54,461,780 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1670:Cib2
|
UTSW |
9 |
54,455,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4790:Cib2
|
UTSW |
9 |
54,457,087 (GRCm39) |
splice site |
probably null |
|
|
R4910:Cib2
|
UTSW |
9 |
54,457,163 (GRCm39) |
missense |
probably benign |
0.34 |
|
R6823:Cib2
|
UTSW |
9 |
54,457,175 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCACAACCCTGTTGCAGTTAG -3'
(R):5'- GTGGTTTAGACCCTTCTAGCTG -3'
Sequencing Primer
(F):5'- GGAAATGTCCATGGGTGA -3'
(R):5'- CTAGCTGAAAACTGGATAGCTGCTC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation