Incidental Mutation 'R7546:Clip4'
| ID |
628152 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clip4
|
| Ensembl Gene |
ENSMUSG00000024059 |
| Gene Name |
CAP-GLY domain containing linker protein family, member 4 |
| Synonyms |
4833417L20Rik, 1700074B05Rik, 5830409B12Rik, Rsnl2, 1700024K14Rik |
| MMRRC Submission |
045617-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.142)
|
| Stock # |
R7546 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
72076674-72171205 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 72135697 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 483
(C483Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155452
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024854]
[ENSMUST00000229304]
[ENSMUST00000229874]
[ENSMUST00000229952]
[ENSMUST00000230305]
[ENSMUST00000230333]
[ENSMUST00000230747]
[ENSMUST00000230749]
[ENSMUST00000231105]
|
| AlphaFold |
Q8CI96 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024854
|
| SMART Domains |
Protein: ENSMUSP00000024854
Gene: ENSMUSG00000024059
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
106 |
144 |
4.58e2 |
SMART |
|
ANK
|
149 |
180 |
3.26e0 |
SMART |
|
ANK
|
186 |
215 |
3.26e0 |
SMART |
|
CAP_GLY
|
285 |
350 |
6.63e-34 |
SMART |
|
low complexity region
|
358 |
371 |
N/A |
INTRINSIC |
|
low complexity region
|
389 |
403 |
N/A |
INTRINSIC |
|
low complexity region
|
423 |
432 |
N/A |
INTRINSIC |
|
low complexity region
|
440 |
461 |
N/A |
INTRINSIC |
|
low complexity region
|
469 |
478 |
N/A |
INTRINSIC |
|
CAP_GLY
|
486 |
551 |
5.52e-31 |
SMART |
|
low complexity region
|
575 |
586 |
N/A |
INTRINSIC |
|
low complexity region
|
598 |
612 |
N/A |
INTRINSIC |
|
CAP_GLY
|
624 |
690 |
5.65e-28 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000229304
AA Change: C483Y
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229874
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229952
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230160
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230305
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230333
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000230747
AA Change: C483Y
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230749
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231105
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231131
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (40/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700122O11Rik |
A |
G |
17: 48,348,330 (GRCm39) |
S36P |
probably benign |
Het |
| A530084C06Rik |
G |
T |
13: 31,742,978 (GRCm39) |
R92S |
unknown |
Het |
| Ampd1 |
A |
G |
3: 103,003,028 (GRCm39) |
T582A |
probably benign |
Het |
| Ank1 |
A |
C |
8: 23,555,011 (GRCm39) |
N57T |
probably damaging |
Het |
| Atxn3 |
A |
G |
12: 101,914,261 (GRCm39) |
|
probably null |
Het |
| Bace2 |
G |
A |
16: 97,200,882 (GRCm39) |
A117T |
probably benign |
Het |
| Bcl2l15 |
A |
G |
3: 103,740,203 (GRCm39) |
N19S |
probably benign |
Het |
| Bid |
C |
A |
6: 120,877,112 (GRCm39) |
|
probably null |
Het |
| Cadps2 |
A |
T |
6: 23,626,607 (GRCm39) |
M227K |
probably benign |
Het |
| Dennd4a |
A |
G |
9: 64,780,326 (GRCm39) |
T621A |
probably damaging |
Het |
| E2f3 |
G |
A |
13: 30,094,112 (GRCm39) |
S383L |
probably damaging |
Het |
| F2r |
C |
T |
13: 95,754,858 (GRCm39) |
V9I |
probably benign |
Het |
| Gm14226 |
T |
C |
2: 154,867,131 (GRCm39) |
S363P |
probably damaging |
Het |
| Gstm5 |
T |
C |
3: 107,804,610 (GRCm39) |
Y65H |
probably damaging |
Het |
| H2bc13 |
A |
G |
13: 21,900,040 (GRCm39) |
S92P |
probably benign |
Het |
| H60c |
A |
G |
10: 3,209,907 (GRCm39) |
W127R |
probably damaging |
Het |
| Itgav |
G |
T |
2: 83,606,894 (GRCm39) |
G448* |
probably null |
Het |
| Klrh1 |
T |
C |
6: 129,749,343 (GRCm39) |
H84R |
probably benign |
Het |
| Lhx6 |
C |
T |
2: 35,993,357 (GRCm39) |
|
probably null |
Het |
| Manba |
T |
A |
3: 135,276,007 (GRCm39) |
V816D |
probably benign |
Het |
| Marchf10 |
G |
A |
11: 105,280,906 (GRCm39) |
P460S |
not run |
Het |
| Mmp17 |
T |
A |
5: 129,673,653 (GRCm39) |
V244E |
probably damaging |
Het |
| Mtrr |
C |
T |
13: 68,730,268 (GRCm39) |
|
probably benign |
Het |
| Nup160 |
T |
C |
2: 90,515,402 (GRCm39) |
I170T |
probably damaging |
Het |
| Or4c12b |
A |
G |
2: 89,647,363 (GRCm39) |
N225S |
probably benign |
Het |
| Or4c12b |
A |
T |
2: 89,647,538 (GRCm39) |
L283F |
probably damaging |
Het |
| Or51e1 |
T |
C |
7: 102,358,996 (GRCm39) |
S177P |
probably damaging |
Het |
| Pappa |
G |
A |
4: 65,074,352 (GRCm39) |
S302N |
possibly damaging |
Het |
| Plekhj1 |
G |
A |
10: 80,633,748 (GRCm39) |
A53V |
possibly damaging |
Het |
| Pramel46 |
T |
A |
5: 95,418,171 (GRCm39) |
H275L |
possibly damaging |
Het |
| Pramel48 |
C |
T |
5: 95,630,539 (GRCm39) |
R139C |
probably benign |
Het |
| Prpf8 |
T |
C |
11: 75,399,200 (GRCm39) |
V2157A |
probably damaging |
Het |
| Rps8 |
G |
A |
4: 117,011,104 (GRCm39) |
R200W |
probably damaging |
Het |
| Sesn2 |
A |
G |
4: 132,227,154 (GRCm39) |
F93L |
probably damaging |
Het |
| Skic3 |
C |
A |
13: 76,282,954 (GRCm39) |
L759M |
probably damaging |
Het |
| Slf1 |
A |
G |
13: 77,197,311 (GRCm39) |
S768P |
probably benign |
Het |
| Stat4 |
A |
G |
1: 52,137,622 (GRCm39) |
N471S |
probably damaging |
Het |
| Trcg1 |
T |
C |
9: 57,155,621 (GRCm39) |
L758P |
probably benign |
Het |
| Trim35 |
A |
G |
14: 66,540,696 (GRCm39) |
T183A |
probably benign |
Het |
| Ttr |
C |
A |
18: 20,803,102 (GRCm39) |
Y89* |
probably null |
Het |
| Zfp90 |
C |
A |
8: 107,151,323 (GRCm39) |
H345Q |
probably benign |
Het |
| Zmym4 |
A |
G |
4: 126,757,961 (GRCm39) |
V1531A |
probably damaging |
Het |
|
| Other mutations in Clip4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00417:Clip4
|
APN |
17 |
72,156,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01011:Clip4
|
APN |
17 |
72,156,934 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01086:Clip4
|
APN |
17 |
72,131,789 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01712:Clip4
|
APN |
17 |
72,106,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01833:Clip4
|
APN |
17 |
72,134,785 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02150:Clip4
|
APN |
17 |
72,106,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02378:Clip4
|
APN |
17 |
72,144,721 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02597:Clip4
|
APN |
17 |
72,156,965 (GRCm39) |
splice site |
probably benign |
|
|
IGL02676:Clip4
|
APN |
17 |
72,135,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4243001:Clip4
|
UTSW |
17 |
72,113,723 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0525:Clip4
|
UTSW |
17 |
72,106,093 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0737:Clip4
|
UTSW |
17 |
72,144,694 (GRCm39) |
nonsense |
probably null |
|
|
R1791:Clip4
|
UTSW |
17 |
72,108,937 (GRCm39) |
splice site |
probably benign |
|
|
R1908:Clip4
|
UTSW |
17 |
72,144,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2290:Clip4
|
UTSW |
17 |
72,117,948 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R3701:Clip4
|
UTSW |
17 |
72,106,003 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4001:Clip4
|
UTSW |
17 |
72,106,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4013:Clip4
|
UTSW |
17 |
72,163,541 (GRCm39) |
nonsense |
probably null |
|
|
R4589:Clip4
|
UTSW |
17 |
72,117,862 (GRCm39) |
nonsense |
probably null |
|
|
R4837:Clip4
|
UTSW |
17 |
72,141,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5174:Clip4
|
UTSW |
17 |
72,117,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5239:Clip4
|
UTSW |
17 |
72,106,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5298:Clip4
|
UTSW |
17 |
72,141,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5535:Clip4
|
UTSW |
17 |
72,138,257 (GRCm39) |
missense |
probably benign |
|
|
R5667:Clip4
|
UTSW |
17 |
72,096,878 (GRCm39) |
start codon destroyed |
probably damaging |
1.00 |
|
R5671:Clip4
|
UTSW |
17 |
72,096,878 (GRCm39) |
start codon destroyed |
probably damaging |
1.00 |
|
R5730:Clip4
|
UTSW |
17 |
72,117,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5768:Clip4
|
UTSW |
17 |
72,113,494 (GRCm39) |
splice site |
probably null |
|
|
R5913:Clip4
|
UTSW |
17 |
72,131,760 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5974:Clip4
|
UTSW |
17 |
72,138,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5996:Clip4
|
UTSW |
17 |
72,163,305 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6176:Clip4
|
UTSW |
17 |
72,113,628 (GRCm39) |
nonsense |
probably null |
|
|
R6371:Clip4
|
UTSW |
17 |
72,163,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6386:Clip4
|
UTSW |
17 |
72,141,189 (GRCm39) |
nonsense |
probably null |
|
|
R7296:Clip4
|
UTSW |
17 |
72,096,996 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7548:Clip4
|
UTSW |
17 |
72,096,963 (GRCm39) |
missense |
probably benign |
|
|
R7616:Clip4
|
UTSW |
17 |
72,141,268 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8054:Clip4
|
UTSW |
17 |
72,141,268 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8056:Clip4
|
UTSW |
17 |
72,110,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8486:Clip4
|
UTSW |
17 |
72,170,839 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R8697:Clip4
|
UTSW |
17 |
72,163,270 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8812:Clip4
|
UTSW |
17 |
72,107,800 (GRCm39) |
nonsense |
probably null |
|
|
R8929:Clip4
|
UTSW |
17 |
72,138,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8942:Clip4
|
UTSW |
17 |
72,170,768 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8985:Clip4
|
UTSW |
17 |
72,113,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9100:Clip4
|
UTSW |
17 |
72,117,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9198:Clip4
|
UTSW |
17 |
72,117,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9200:Clip4
|
UTSW |
17 |
72,117,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9201:Clip4
|
UTSW |
17 |
72,117,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9202:Clip4
|
UTSW |
17 |
72,117,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9640:Clip4
|
UTSW |
17 |
72,163,264 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9753:Clip4
|
UTSW |
17 |
72,106,068 (GRCm39) |
missense |
probably benign |
0.31 |
|
Z1177:Clip4
|
UTSW |
17 |
72,106,092 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCGTGCATTTGGACAAATC -3'
(R):5'- TCCAACCGCATAGTCAGGAG -3'
Sequencing Primer
(F):5'- GCGCTTCAGAAAAATTTGCC -3'
(R):5'- CAGCATGGAGTTCAGTGTGAC -3'
|
| Posted On |
2020-01-24 |
Incidental Mutation