Incidental Mutation 'R9201:Clip4'
ID |
698248 |
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 |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.174)
|
Stock # |
R9201 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
72076674-72171205 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 72117884 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Arginine
at position 310
(G310R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000024854
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024854]
[ENSMUST00000229304]
[ENSMUST00000229874]
[ENSMUST00000229952]
[ENSMUST00000230305]
[ENSMUST00000230333]
[ENSMUST00000230747]
[ENSMUST00000230749]
[ENSMUST00000231105]
|
AlphaFold |
Q8CI96 |
PDB Structure |
Solution structure of the 1st CAP-Gly domain in mouse 1700024K14Rik hypothetical protein [SOLUTION NMR]
Solution structure of the 3rd CAP-Gly domain in mouse 1700024K14Rik hypothetical protein [SOLUTION NMR]
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000024854
AA Change: G310R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000024854 Gene: ENSMUSG00000024059 AA Change: G310R
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 |
probably damaging
Transcript: ENSMUST00000229304
AA Change: G310R
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000229874
AA Change: G310R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000229952
AA Change: G310R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000230305
AA Change: G310R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000230333
AA Change: G310R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000230747
AA Change: G310R
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000230749
AA Change: G310R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231105
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931406B18Rik |
A |
G |
7: 43,150,709 (GRCm39) |
V21A |
possibly damaging |
Het |
Abcc2 |
T |
C |
19: 43,786,880 (GRCm39) |
F167S |
probably damaging |
Het |
Afap1l2 |
C |
A |
19: 56,916,688 (GRCm39) |
W280L |
probably damaging |
Het |
Ankrd17 |
A |
T |
5: 90,378,798 (GRCm39) |
M2540K |
possibly damaging |
Het |
Atxn10 |
T |
C |
15: 85,243,687 (GRCm39) |
V50A |
probably damaging |
Het |
Bpifb2 |
A |
T |
2: 153,733,903 (GRCm39) |
Q415L |
possibly damaging |
Het |
Cat |
A |
T |
2: 103,304,754 (GRCm39) |
D90E |
possibly damaging |
Het |
Cdh12 |
T |
C |
15: 21,237,825 (GRCm39) |
L20P |
possibly damaging |
Het |
Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
Cimap3 |
T |
A |
3: 105,906,921 (GRCm39) |
K159N |
probably damaging |
Het |
Clca3a2 |
A |
G |
3: 144,519,684 (GRCm39) |
I230T |
probably benign |
Het |
Dcaf15 |
T |
C |
8: 84,828,699 (GRCm39) |
T159A |
possibly damaging |
Het |
Dcbld1 |
A |
G |
10: 52,138,000 (GRCm39) |
D88G |
probably benign |
Het |
Edem3 |
G |
T |
1: 151,694,324 (GRCm39) |
V886F |
probably benign |
Het |
Ero1a |
A |
G |
14: 45,525,214 (GRCm39) |
V437A |
probably damaging |
Het |
Fat4 |
T |
C |
3: 38,945,079 (GRCm39) |
V1324A |
probably damaging |
Het |
Fgfr1op2 |
A |
G |
6: 146,494,217 (GRCm39) |
E161G |
probably benign |
Het |
Fhod3 |
T |
A |
18: 25,127,613 (GRCm39) |
Y318* |
probably null |
Het |
Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
Kmt5a |
A |
T |
5: 124,597,912 (GRCm39) |
E256D |
probably damaging |
Het |
Lax1 |
A |
T |
1: 133,608,205 (GRCm39) |
S179T |
possibly damaging |
Het |
Nf1 |
T |
C |
11: 79,461,156 (GRCm39) |
S741P |
probably benign |
Het |
Nrap |
T |
A |
19: 56,340,093 (GRCm39) |
H844L |
probably damaging |
Het |
Nrip3 |
T |
C |
7: 109,360,906 (GRCm39) |
T230A |
probably benign |
Het |
Nudcd1 |
T |
C |
15: 44,263,473 (GRCm39) |
K322R |
probably benign |
Het |
Or14c40 |
T |
C |
7: 86,313,749 (GRCm39) |
I293T |
probably damaging |
Het |
Or9a7 |
C |
T |
6: 40,521,293 (GRCm39) |
V207I |
probably benign |
Het |
Paqr3 |
A |
G |
5: 97,245,365 (GRCm39) |
S256P |
possibly damaging |
Het |
Ppfia2 |
T |
C |
10: 106,678,640 (GRCm39) |
|
probably null |
Het |
Ppp2r1b |
T |
A |
9: 50,789,447 (GRCm39) |
N503K |
probably benign |
Het |
Ppp2r2b |
A |
G |
18: 42,871,101 (GRCm39) |
Y70H |
possibly damaging |
Het |
Pramel34 |
A |
T |
5: 93,785,937 (GRCm39) |
N114K |
probably benign |
Het |
Ptprz1 |
G |
T |
6: 22,972,869 (GRCm39) |
|
probably null |
Het |
Rbm15b |
A |
G |
9: 106,762,218 (GRCm39) |
S138P |
unknown |
Het |
Slc4a5 |
C |
T |
6: 83,262,812 (GRCm39) |
T768I |
probably benign |
Het |
Smc2 |
T |
A |
4: 52,446,044 (GRCm39) |
N137K |
probably damaging |
Het |
Snai2 |
A |
T |
16: 14,524,632 (GRCm39) |
E46V |
probably benign |
Het |
Spata31d1c |
A |
G |
13: 65,184,773 (GRCm39) |
S772G |
possibly damaging |
Het |
Spidr |
G |
T |
16: 15,730,556 (GRCm39) |
R650S |
possibly damaging |
Het |
Stox1 |
A |
G |
10: 62,501,352 (GRCm39) |
S403P |
probably damaging |
Het |
Tdrd6 |
T |
C |
17: 43,936,561 (GRCm39) |
K1496E |
probably benign |
Het |
Tsc1 |
T |
C |
2: 28,576,791 (GRCm39) |
V1031A |
probably benign |
Het |
Txnrd1 |
T |
C |
10: 82,719,821 (GRCm39) |
I394T |
probably benign |
Het |
Usp24 |
T |
A |
4: 106,277,727 (GRCm39) |
F2286I |
probably benign |
Het |
Zfp369 |
T |
C |
13: 65,444,396 (GRCm39) |
V513A |
probably benign |
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 |
R7546:Clip4
|
UTSW |
17 |
72,135,697 (GRCm39) |
missense |
possibly damaging |
0.85 |
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 |
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'- CACAACGTGGACTTTTCTTTTCAG -3'
(R):5'- TATGTGACACGAGGAGCCAG -3'
Sequencing Primer
(F):5'- GAAGGATTCCATGTCTTTCTGAC -3'
(R):5'- CCAGGGAAAGGCTTAGTTTAAAACTG -3'
|
Posted On |
2022-02-07 |