Incidental Mutation 'R3608:CK137956'
| ID |
269152 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
CK137956
|
| Ensembl Gene |
ENSMUSG00000028813 |
| Gene Name |
cDNA sequence CK137956 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.158)
|
| Stock # |
R3608 (G1)
|
| Quality Score |
204 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
127821385-127864744 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 127845119 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 208
(I208N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030614
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030614]
|
| AlphaFold |
B1AYM9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030614
AA Change: I208N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000030614
Gene: ENSMUSG00000028813
AA Change: I208N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4688
|
197 |
596 |
3.8e-249 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| B3gnt4 |
C |
A |
5: 123,648,838 (GRCm39) |
R68S |
probably damaging |
Het |
| Brf1 |
A |
G |
12: 112,924,894 (GRCm39) |
L610P |
probably benign |
Het |
| Cacna1e |
T |
A |
1: 154,291,831 (GRCm39) |
R1783S |
probably benign |
Het |
| Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
| Col17a1 |
G |
A |
19: 47,668,844 (GRCm39) |
L127F |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Dlgap4 |
C |
T |
2: 156,590,332 (GRCm39) |
|
probably benign |
Het |
| Ect2l |
A |
T |
10: 18,018,688 (GRCm39) |
N619K |
possibly damaging |
Het |
| Hamp2 |
T |
C |
7: 30,623,539 (GRCm39) |
T8A |
probably benign |
Het |
| Lamb1 |
T |
A |
12: 31,337,909 (GRCm39) |
N407K |
probably damaging |
Het |
| Lrrc32 |
C |
T |
7: 98,148,393 (GRCm39) |
T391M |
probably benign |
Het |
| Mroh2a |
G |
T |
1: 88,172,717 (GRCm39) |
A829S |
probably damaging |
Het |
| Ncoa1 |
T |
C |
12: 4,328,186 (GRCm39) |
N884S |
probably benign |
Het |
| Neil1 |
T |
C |
9: 57,051,485 (GRCm39) |
T278A |
probably damaging |
Het |
| Pcnx2 |
T |
C |
8: 126,614,840 (GRCm39) |
T204A |
probably benign |
Het |
| Psmc3 |
T |
A |
2: 90,884,925 (GRCm39) |
D30E |
probably benign |
Het |
| Rtkn |
T |
A |
6: 83,127,016 (GRCm39) |
C328S |
probably damaging |
Het |
| Speer4f2 |
C |
A |
5: 17,579,492 (GRCm39) |
T97K |
probably benign |
Het |
| Srd5a2 |
A |
G |
17: 74,334,026 (GRCm39) |
V131A |
probably benign |
Het |
| Tm9sf4 |
A |
G |
2: 153,020,897 (GRCm39) |
H35R |
probably benign |
Het |
| Ubr2 |
G |
T |
17: 47,255,449 (GRCm39) |
D1412E |
probably damaging |
Het |
| Vmn2r95 |
G |
A |
17: 18,660,235 (GRCm39) |
V216I |
possibly damaging |
Het |
| Ypel1 |
A |
T |
16: 16,910,154 (GRCm39) |
C126* |
probably null |
Het |
|
| Other mutations in CK137956 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01123:CK137956
|
APN |
4 |
127,829,643 (GRCm39) |
missense |
probably benign |
|
|
IGL01365:CK137956
|
APN |
4 |
127,845,135 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01563:CK137956
|
APN |
4 |
127,864,428 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01834:CK137956
|
APN |
4 |
127,840,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0117:CK137956
|
UTSW |
4 |
127,840,585 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R0456:CK137956
|
UTSW |
4 |
127,839,100 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0492:CK137956
|
UTSW |
4 |
127,845,093 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1793:CK137956
|
UTSW |
4 |
127,845,242 (GRCm39) |
missense |
probably benign |
|
|
R1869:CK137956
|
UTSW |
4 |
127,864,327 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1932:CK137956
|
UTSW |
4 |
127,840,651 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2011:CK137956
|
UTSW |
4 |
127,844,829 (GRCm39) |
missense |
probably benign |
0.25 |
|
R2030:CK137956
|
UTSW |
4 |
127,845,180 (GRCm39) |
missense |
probably benign |
0.23 |
|
R2032:CK137956
|
UTSW |
4 |
127,839,069 (GRCm39) |
missense |
probably benign |
0.38 |
|
R2135:CK137956
|
UTSW |
4 |
127,845,433 (GRCm39) |
splice site |
probably benign |
|
|
R2994:CK137956
|
UTSW |
4 |
127,845,300 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3895:CK137956
|
UTSW |
4 |
127,840,441 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4165:CK137956
|
UTSW |
4 |
127,864,522 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5610:CK137956
|
UTSW |
4 |
127,840,440 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6861:CK137956
|
UTSW |
4 |
127,864,519 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7149:CK137956
|
UTSW |
4 |
127,864,626 (GRCm39) |
start codon destroyed |
probably null |
0.53 |
|
R8132:CK137956
|
UTSW |
4 |
127,845,075 (GRCm39) |
nonsense |
probably null |
|
|
R8688:CK137956
|
UTSW |
4 |
127,844,739 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCCGGAGCCATTGAACATG -3'
(R):5'- ACCCATTGTTACTCCCCAGG -3'
Sequencing Primer
(F):5'- CTGCAGGAAGTCCTTAATGACCTTG -3'
(R):5'- AATGGCTGGTGACGAGAT -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation