Incidental Mutation 'R5174:Clip4'
| ID |
399071 |
| 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 |
042754-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.142)
|
| Stock # |
R5174 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
72076674-72171205 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 72117957 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 334
(F334S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155140
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024854]
[ENSMUST00000229304]
[ENSMUST00000229874]
[ENSMUST00000229952]
[ENSMUST00000230305]
[ENSMUST00000230333]
[ENSMUST00000230749]
[ENSMUST00000230747]
[ENSMUST00000231105]
|
| AlphaFold |
Q8CI96 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024854
AA Change: F334S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000024854
Gene: ENSMUSG00000024059
AA Change: F334S
| 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: F334S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000229874
AA Change: F334S
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000229952
AA Change: F334S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000230160
AA Change: F26S
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000230305
AA Change: F334S
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000230333
AA Change: F334S
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000230749
AA Change: F334S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000230747
AA Change: F334S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231105
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230700
|
| Meta Mutation Damage Score |
0.9684 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| Validation Efficiency |
99% (69/70) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank3 |
T |
C |
10: 69,728,209 (GRCm39) |
S632P |
probably damaging |
Het |
| Arhgef16 |
G |
A |
4: 154,366,504 (GRCm39) |
R451W |
probably damaging |
Het |
| Asxl3 |
A |
T |
18: 22,656,172 (GRCm39) |
D1394V |
probably benign |
Het |
| Atp2a3 |
T |
A |
11: 72,871,041 (GRCm39) |
I545N |
probably damaging |
Het |
| Cadps2 |
T |
A |
6: 23,287,742 (GRCm39) |
Y1181F |
probably damaging |
Het |
| Camkmt |
C |
A |
17: 85,759,665 (GRCm39) |
F268L |
probably benign |
Het |
| Casp14 |
C |
T |
10: 78,551,225 (GRCm39) |
G20D |
possibly damaging |
Het |
| Celf1 |
T |
C |
2: 90,831,353 (GRCm39) |
C61R |
probably damaging |
Het |
| Cenpp |
CAAACCTGAAAA |
CAAA |
13: 49,618,258 (GRCm39) |
|
probably null |
Het |
| Cers3 |
A |
T |
7: 66,434,616 (GRCm39) |
K203M |
probably damaging |
Het |
| Cyp2b13 |
T |
A |
7: 25,788,118 (GRCm39) |
D415E |
possibly damaging |
Het |
| Decr2 |
A |
T |
17: 26,306,443 (GRCm39) |
|
probably null |
Het |
| Dmxl2 |
T |
C |
9: 54,352,768 (GRCm39) |
|
probably null |
Het |
| Dnah7b |
G |
A |
1: 46,282,509 (GRCm39) |
A2881T |
possibly damaging |
Het |
| Dnaja3 |
A |
G |
16: 4,502,161 (GRCm39) |
H55R |
probably benign |
Het |
| Dnajc11 |
T |
C |
4: 152,064,441 (GRCm39) |
F531L |
probably damaging |
Het |
| Efcab6 |
A |
G |
15: 83,938,687 (GRCm39) |
F10L |
probably benign |
Het |
| Epm2aip1 |
T |
C |
9: 111,102,455 (GRCm39) |
F476S |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 15,910,866 (GRCm39) |
N1712S |
probably damaging |
Het |
| Flnc |
T |
C |
6: 29,448,893 (GRCm39) |
V1343A |
possibly damaging |
Het |
| Fsip2 |
C |
T |
2: 82,811,085 (GRCm39) |
P2468L |
probably benign |
Het |
| Gm5798 |
A |
G |
14: 41,070,620 (GRCm39) |
H10R |
possibly damaging |
Het |
| Gm7168 |
A |
G |
17: 14,168,717 (GRCm39) |
Y28C |
probably damaging |
Het |
| Gtpbp6 |
G |
A |
5: 110,255,983 (GRCm39) |
R19C |
possibly damaging |
Het |
| Gucy2e |
A |
G |
11: 69,127,392 (GRCm39) |
F27S |
probably benign |
Het |
| Inhca |
C |
T |
9: 103,159,755 (GRCm39) |
|
probably null |
Het |
| Krba1 |
A |
G |
6: 48,389,229 (GRCm39) |
E548G |
probably damaging |
Het |
| Ltbr |
A |
G |
6: 125,286,500 (GRCm39) |
S229P |
probably benign |
Het |
| Mgat5b |
A |
T |
11: 116,868,541 (GRCm39) |
Y488F |
probably benign |
Het |
| Mia3 |
T |
A |
1: 183,112,348 (GRCm39) |
K475* |
probably null |
Het |
| Mrpl53 |
C |
T |
6: 83,086,638 (GRCm39) |
T114M |
possibly damaging |
Het |
| Mrps35 |
T |
C |
6: 146,961,709 (GRCm39) |
Y195H |
possibly damaging |
Het |
| Muc4 |
A |
T |
16: 32,570,556 (GRCm39) |
I539F |
possibly damaging |
Het |
| Nedd1 |
T |
A |
10: 92,547,074 (GRCm39) |
T150S |
possibly damaging |
Het |
| Nox4 |
T |
G |
7: 86,972,974 (GRCm39) |
I327S |
probably benign |
Het |
| Nrk |
C |
G |
X: 137,887,528 (GRCm39) |
A1018G |
probably benign |
Het |
| Or4c102 |
T |
A |
2: 88,422,992 (GRCm39) |
N281K |
probably damaging |
Het |
| Or4d5 |
T |
C |
9: 40,012,043 (GRCm39) |
T248A |
possibly damaging |
Het |
| Or52ae7 |
T |
A |
7: 103,119,610 (GRCm39) |
F121L |
probably benign |
Het |
| Or5w19 |
T |
A |
2: 87,698,755 (GRCm39) |
V140E |
possibly damaging |
Het |
| Pdzd2 |
G |
A |
15: 12,372,600 (GRCm39) |
P2512S |
probably benign |
Het |
| Ptgis |
T |
A |
2: 167,045,390 (GRCm39) |
|
probably null |
Het |
| Rnf170 |
T |
A |
8: 26,619,196 (GRCm39) |
M140K |
probably benign |
Het |
| Scaf4 |
A |
T |
16: 90,044,062 (GRCm39) |
I637K |
unknown |
Het |
| Sdccag8 |
A |
T |
1: 176,672,916 (GRCm39) |
T270S |
probably damaging |
Het |
| Sec24d |
T |
C |
3: 123,158,575 (GRCm39) |
C1022R |
probably damaging |
Het |
| Sec63 |
T |
C |
10: 42,705,077 (GRCm39) |
|
probably benign |
Het |
| Serpinb3d |
C |
G |
1: 107,006,228 (GRCm39) |
E287Q |
possibly damaging |
Het |
| Silc1 |
A |
T |
12: 27,192,027 (GRCm39) |
|
noncoding transcript |
Het |
| Smarcd2 |
A |
G |
11: 106,157,871 (GRCm39) |
|
probably benign |
Het |
| Sox15 |
A |
G |
11: 69,546,545 (GRCm39) |
Y116C |
probably damaging |
Het |
| Spag16 |
T |
C |
1: 70,532,955 (GRCm39) |
S545P |
probably damaging |
Het |
| Ssc5d |
C |
A |
7: 4,930,970 (GRCm39) |
T184N |
possibly damaging |
Het |
| St6galnac2 |
A |
T |
11: 116,572,773 (GRCm39) |
F228I |
probably damaging |
Het |
| Syne1 |
T |
C |
10: 4,991,490 (GRCm39) |
N8408S |
probably damaging |
Het |
| Trank1 |
A |
C |
9: 111,194,627 (GRCm39) |
T884P |
probably benign |
Het |
| Ubr3 |
T |
A |
2: 69,839,506 (GRCm39) |
L1540H |
probably damaging |
Het |
| Ugt2b37 |
C |
A |
5: 87,399,739 (GRCm39) |
M256I |
probably benign |
Het |
| Vmn2r69 |
G |
A |
7: 85,064,739 (GRCm39) |
T49I |
possibly damaging |
Het |
| Vmn2r72 |
T |
A |
7: 85,387,048 (GRCm39) |
I839L |
probably benign |
Het |
| Zcrb1 |
A |
G |
15: 93,285,456 (GRCm39) |
|
probably null |
Het |
| Zfp319 |
A |
T |
8: 96,054,797 (GRCm39) |
|
probably null |
Het |
| Zfp592 |
T |
C |
7: 80,688,073 (GRCm39) |
S1000P |
probably damaging |
Het |
| Zfp938 |
T |
C |
10: 82,061,838 (GRCm39) |
N261D |
possibly damaging |
Het |
| Zfp957 |
A |
G |
14: 79,450,828 (GRCm39) |
S324P |
unknown |
Het |
| Zswim6 |
G |
T |
13: 107,863,216 (GRCm39) |
|
noncoding transcript |
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 |
|
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 |
|
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'- GAAGGATTCCATGTCTTTCTGAC -3'
(R):5'- CAGCAGCCTCTCTAGCATTC -3'
Sequencing Primer
(F):5'- GTCTACTTTGAAAGACGTAAAAAGC -3'
(R):5'- TCTAGCATTCCCATCAGTGTAAAC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation