Incidental Mutation 'R7548:Clip4'
| ID |
584350 |
| 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 |
045619-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.174)
|
| Stock # |
R7548 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
72076674-72171205 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 72096963 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Arginine
at position 29
(T29R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024854
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024854]
[ENSMUST00000229288]
[ENSMUST00000229304]
[ENSMUST00000229874]
[ENSMUST00000229952]
[ENSMUST00000230305]
[ENSMUST00000230333]
[ENSMUST00000230427]
[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 benign
Transcript: ENSMUST00000024854
AA Change: T29R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000024854
Gene: ENSMUSG00000024059
AA Change: T29R
| 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 benign
Transcript: ENSMUST00000229288
AA Change: T29R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229304
AA Change: T29R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000229874
AA Change: T29R
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229952
AA Change: T29R
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230305
AA Change: T29R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230333
AA Change: T29R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230427
AA Change: T29R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230747
AA Change: T29R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230749
AA Change: T29R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231105
AA Change: T29R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (71/71) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930519G04Rik |
G |
A |
5: 115,016,059 (GRCm39) |
S146N |
possibly damaging |
Het |
| Acr |
T |
C |
15: 89,458,596 (GRCm39) |
S426P |
possibly damaging |
Het |
| Arl6ip1 |
A |
T |
7: 117,725,733 (GRCm39) |
I59N |
probably damaging |
Het |
| Atp2b4 |
A |
T |
1: 133,629,379 (GRCm39) |
*81K |
probably null |
Het |
| Atp8a1 |
T |
A |
5: 67,973,071 (GRCm39) |
R26* |
probably null |
Het |
| Atp8b4 |
T |
A |
2: 126,231,262 (GRCm39) |
Q453L |
probably benign |
Het |
| B4galt4 |
A |
G |
16: 38,574,428 (GRCm39) |
E134G |
probably damaging |
Het |
| Bcl9 |
G |
A |
3: 97,113,209 (GRCm39) |
T1082I |
probably damaging |
Het |
| Catsperg2 |
A |
G |
7: 29,409,251 (GRCm39) |
F617L |
probably benign |
Het |
| Ccdc15 |
T |
C |
9: 37,188,723 (GRCm39) |
N800S |
probably benign |
Het |
| Cd300ld |
T |
C |
11: 114,878,248 (GRCm39) |
D88G |
probably benign |
Het |
| Ceacam2 |
A |
T |
7: 25,229,958 (GRCm39) |
V216E |
probably benign |
Het |
| Cecr2 |
T |
A |
6: 120,738,675 (GRCm39) |
M356K |
|
Het |
| Cenpm |
T |
C |
15: 82,128,880 (GRCm39) |
M1V |
probably null |
Het |
| Ces2e |
A |
G |
8: 105,658,538 (GRCm39) |
E401G |
probably benign |
Het |
| Cib3 |
C |
A |
8: 72,961,041 (GRCm39) |
L65F |
probably damaging |
Het |
| Cnot7 |
A |
G |
8: 40,953,874 (GRCm39) |
I131T |
probably damaging |
Het |
| Cntn5 |
A |
T |
9: 9,673,415 (GRCm39) |
|
probably null |
Het |
| Col11a1 |
A |
C |
3: 113,917,409 (GRCm39) |
H732P |
unknown |
Het |
| Coq4 |
A |
T |
2: 29,685,420 (GRCm39) |
T145S |
possibly damaging |
Het |
| Cwf19l1 |
T |
C |
19: 44,098,989 (GRCm39) |
D527G |
probably benign |
Het |
| Cyp3a25 |
T |
C |
5: 145,923,735 (GRCm39) |
I303V |
probably damaging |
Het |
| Dab2 |
C |
T |
15: 6,459,399 (GRCm39) |
T437I |
possibly damaging |
Het |
| Dlc1 |
A |
G |
8: 37,051,809 (GRCm39) |
S190P |
probably benign |
Het |
| Dnah6 |
G |
A |
6: 73,004,423 (GRCm39) |
L3847F |
probably damaging |
Het |
| Dnmbp |
T |
C |
19: 43,877,838 (GRCm39) |
E411G |
probably benign |
Het |
| Dpp8 |
T |
C |
9: 64,944,517 (GRCm39) |
Y95H |
probably damaging |
Het |
| Emb |
T |
A |
13: 117,408,590 (GRCm39) |
D310E |
possibly damaging |
Het |
| Eml4 |
C |
A |
17: 83,732,766 (GRCm39) |
Q140K |
probably benign |
Het |
| Epb41l3 |
T |
C |
17: 69,517,271 (GRCm39) |
S100P |
probably damaging |
Het |
| Fat4 |
A |
T |
3: 39,035,263 (GRCm39) |
T2972S |
probably benign |
Het |
| Fignl2 |
T |
C |
15: 100,951,079 (GRCm39) |
E401G |
unknown |
Het |
| Fryl |
T |
A |
5: 73,349,105 (GRCm39) |
D19V |
unknown |
Het |
| Gck |
C |
T |
11: 5,852,040 (GRCm39) |
G16R |
|
Het |
| Gm3371 |
T |
C |
14: 44,648,145 (GRCm39) |
M1V |
probably null |
Het |
| Hlcs |
T |
A |
16: 93,933,876 (GRCm39) |
K661* |
probably null |
Het |
| Il17re |
C |
G |
6: 113,443,348 (GRCm39) |
P363A |
probably damaging |
Het |
| Kif24 |
C |
T |
4: 41,423,601 (GRCm39) |
E217K |
possibly damaging |
Het |
| Klhdc7b |
T |
C |
15: 89,272,907 (GRCm39) |
I605T |
probably damaging |
Het |
| Krt31 |
T |
C |
11: 99,940,346 (GRCm39) |
T170A |
probably damaging |
Het |
| Lgals3bp |
T |
C |
11: 118,287,669 (GRCm39) |
D126G |
probably benign |
Het |
| Lig1 |
T |
A |
7: 13,035,344 (GRCm39) |
F601Y |
possibly damaging |
Het |
| Lrp6 |
A |
G |
6: 134,484,471 (GRCm39) |
I384T |
probably damaging |
Het |
| Mfap5 |
A |
T |
6: 122,502,993 (GRCm39) |
T102S |
probably benign |
Het |
| Mfsd6 |
A |
G |
1: 52,702,446 (GRCm39) |
F600S |
possibly damaging |
Het |
| Nlrp4a |
G |
A |
7: 26,149,604 (GRCm39) |
E404K |
probably damaging |
Het |
| Nme3 |
T |
C |
17: 25,115,522 (GRCm39) |
L12P |
probably damaging |
Het |
| Nxpe5 |
A |
T |
5: 138,249,493 (GRCm39) |
T428S |
probably benign |
Het |
| Or1e26 |
G |
A |
11: 73,479,802 (GRCm39) |
T254I |
possibly damaging |
Het |
| Or4c122 |
T |
C |
2: 89,079,430 (GRCm39) |
T191A |
probably benign |
Het |
| Prr5 |
C |
A |
15: 84,641,259 (GRCm39) |
P175Q |
possibly damaging |
Het |
| Psmc6 |
T |
C |
14: 45,572,375 (GRCm39) |
Y110H |
probably benign |
Het |
| Pthlh |
T |
A |
6: 147,158,653 (GRCm39) |
R102S |
possibly damaging |
Het |
| Ric8b |
G |
T |
10: 84,783,736 (GRCm39) |
S198I |
probably damaging |
Het |
| Rrp7a |
C |
A |
15: 83,001,871 (GRCm39) |
R212S |
possibly damaging |
Het |
| Rubcnl |
T |
C |
14: 75,279,792 (GRCm39) |
Y392H |
probably benign |
Het |
| Sag |
G |
A |
1: 87,772,638 (GRCm39) |
V369I |
probably benign |
Het |
| Sar1b |
A |
G |
11: 51,680,094 (GRCm39) |
E140G |
probably benign |
Het |
| Sema3d |
T |
A |
5: 12,627,783 (GRCm39) |
M658K |
unknown |
Het |
| Skor2 |
C |
T |
18: 76,948,600 (GRCm39) |
S774F |
possibly damaging |
Het |
| Slc1a6 |
G |
T |
10: 78,650,265 (GRCm39) |
R501L |
probably damaging |
Het |
| Spata31d1b |
A |
G |
13: 59,864,468 (GRCm39) |
M539V |
probably benign |
Het |
| Spocd1 |
T |
C |
4: 129,823,602 (GRCm39) |
L133P |
|
Het |
| Sptlc1 |
A |
T |
13: 53,521,968 (GRCm39) |
N96K |
possibly damaging |
Het |
| Stox1 |
A |
T |
10: 62,501,946 (GRCm39) |
S205T |
probably damaging |
Het |
| Tec |
T |
C |
5: 72,917,693 (GRCm39) |
M509V |
probably damaging |
Het |
| Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
| Ttc34 |
T |
A |
4: 154,940,816 (GRCm39) |
L499Q |
probably damaging |
Het |
| Uqcc1 |
A |
G |
2: 155,751,309 (GRCm39) |
C120R |
probably damaging |
Het |
| Usp39 |
C |
T |
6: 72,321,996 (GRCm39) |
S46N |
possibly damaging |
Het |
| Zbtb5 |
T |
C |
4: 44,994,724 (GRCm39) |
E220G |
probably benign |
Het |
| Zfp287 |
A |
T |
11: 62,604,701 (GRCm39) |
C735* |
probably null |
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 |
|
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'- TTTTGTGACTGCAGGCCGTC -3'
(R):5'- TCGATAAGCAACTGTGGTTTTG -3'
Sequencing Primer
(F):5'- GCAGGCCGTCATCTAATTCTAATAC -3'
(R):5'- GCAACTGTGGTTTTGAAAAAGG -3'
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| Posted On |
2019-10-17 |
Incidental Mutation