Incidental Mutation 'R7616:Clip4'
| ID |
588941 |
| 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 |
045716-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.142)
|
| Stock # |
R7616 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
72076674-72171205 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 72141268 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 541
(Y541H)
|
| 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 benign
Transcript: ENSMUST00000024854
AA Change: Y541H
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000024854
Gene: ENSMUSG00000024059
AA Change: Y541H
| 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: ENSMUST00000229304
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000229874
AA Change: Y541H
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229952
AA Change: Y494H
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230305
AA Change: Y541H
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230333
AA Change: Y541H
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230747
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230749
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231105
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231131
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
98% (41/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563M21Rik |
A |
G |
9: 55,896,738 (GRCm39) |
F290S |
probably benign |
Het |
| 4931414P19Rik |
T |
C |
14: 54,823,123 (GRCm39) |
D358G |
probably damaging |
Het |
| A630089N07Rik |
T |
A |
16: 97,867,410 (GRCm39) |
Q184L |
probably damaging |
Het |
| Adam10 |
A |
G |
9: 70,629,993 (GRCm39) |
R142G |
possibly damaging |
Het |
| Adgrb1 |
A |
G |
15: 74,420,418 (GRCm39) |
T856A |
probably damaging |
Het |
| Angel1 |
A |
G |
12: 86,764,510 (GRCm39) |
S493P |
probably benign |
Het |
| Arid1b |
C |
G |
17: 5,045,661 (GRCm39) |
P150A |
unknown |
Het |
| Atp8b5 |
T |
A |
4: 43,370,823 (GRCm39) |
|
probably null |
Het |
| Cbfa2t3 |
T |
G |
8: 123,360,076 (GRCm39) |
Q525P |
possibly damaging |
Het |
| Cracr2a |
C |
T |
6: 127,585,660 (GRCm39) |
Q153* |
probably null |
Het |
| Dsp |
G |
T |
13: 38,375,458 (GRCm39) |
C1081F |
probably damaging |
Het |
| Dysf |
A |
G |
6: 84,078,945 (GRCm39) |
D708G |
probably benign |
Het |
| Eif3d |
A |
T |
15: 77,845,886 (GRCm39) |
D378E |
probably damaging |
Het |
| Etv1 |
T |
A |
12: 38,915,605 (GRCm39) |
M424K |
probably damaging |
Het |
| Fam120b |
T |
G |
17: 15,623,098 (GRCm39) |
S359A |
possibly damaging |
Het |
| Ffar2 |
A |
G |
7: 30,519,357 (GRCm39) |
L61P |
probably damaging |
Het |
| Grm5 |
A |
T |
7: 87,765,409 (GRCm39) |
D879V |
probably benign |
Het |
| Itpr3 |
C |
A |
17: 27,307,951 (GRCm39) |
A246E |
probably damaging |
Het |
| Kmt2b |
G |
T |
7: 30,281,633 (GRCm39) |
P1207Q |
probably damaging |
Het |
| Mamdc2 |
T |
A |
19: 23,328,168 (GRCm39) |
Y400F |
probably damaging |
Het |
| Mtcl3 |
T |
C |
10: 29,022,574 (GRCm39) |
|
probably benign |
Het |
| Muc4 |
T |
A |
16: 32,574,161 (GRCm39) |
Y746* |
probably null |
Het |
| Mylk |
T |
C |
16: 34,699,927 (GRCm39) |
F430S |
probably damaging |
Het |
| Nek10 |
G |
A |
14: 14,937,759 (GRCm38) |
C826Y |
probably benign |
Het |
| Nf1 |
T |
A |
11: 79,275,092 (GRCm39) |
F51Y |
probably damaging |
Het |
| Or10ag55-ps1 |
T |
C |
2: 87,115,617 (GRCm39) |
*328Q |
probably null |
Het |
| Phf2 |
T |
A |
13: 48,961,083 (GRCm39) |
Y869F |
unknown |
Het |
| Psmb7 |
T |
C |
2: 38,523,976 (GRCm39) |
Y133C |
possibly damaging |
Het |
| Ptcd2 |
G |
A |
13: 99,481,207 (GRCm39) |
|
probably benign |
Het |
| Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
| Slbp |
A |
T |
5: 33,801,210 (GRCm39) |
I167N |
probably damaging |
Het |
| Slc2a2 |
A |
G |
3: 28,781,260 (GRCm39) |
T433A |
probably benign |
Het |
| Snap91 |
T |
A |
9: 86,721,674 (GRCm39) |
N55I |
probably damaging |
Het |
| Stat4 |
A |
T |
1: 52,053,037 (GRCm39) |
K73* |
probably null |
Het |
| Sult2a5 |
G |
A |
7: 13,404,607 (GRCm39) |
M281I |
probably benign |
Het |
| Tenm3 |
A |
T |
8: 48,794,084 (GRCm39) |
M647K |
possibly damaging |
Het |
| Trim66 |
T |
A |
7: 109,082,956 (GRCm39) |
D162V |
probably damaging |
Het |
| Vangl1 |
A |
T |
3: 102,091,381 (GRCm39) |
I235N |
probably damaging |
Het |
| Vmn1r175 |
T |
A |
7: 23,508,031 (GRCm39) |
I199F |
possibly damaging |
Het |
| Vmn1r72 |
A |
G |
7: 11,404,272 (GRCm39) |
S59P |
probably damaging |
Het |
| Wdr25 |
G |
A |
12: 108,958,819 (GRCm39) |
G344S |
possibly damaging |
Het |
| Zfand2a |
A |
T |
5: 139,464,321 (GRCm39) |
N61K |
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 |
|
R7546:Clip4
|
UTSW |
17 |
72,135,697 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7548:Clip4
|
UTSW |
17 |
72,096,963 (GRCm39) |
missense |
probably benign |
|
|
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'- TCTCGGTCATTTGTGAAAACGC -3'
(R):5'- AAGGCAAATTTAGCTTCCCATGAG -3'
Sequencing Primer
(F):5'- TCATTTGTGAAAACGCCGAGC -3'
(R):5'- ATGAGCCTTCCCTCCAAGG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation