Incidental Mutation 'IGL02676:Clip4'
ID |
303124 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Clip4
|
Ensembl Gene |
ENSMUSG00000024059 |
Gene Name |
CAP-GLY domain containing linker protein family, member 4 |
Synonyms |
4833417L20Rik, 1700074B05Rik, 5830409B12Rik, Rsnl2, 1700024K14Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.142)
|
Stock # |
IGL02676
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
72076674-72171205 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 72135616 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Asparagine
at position 456
(S456N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155452
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024854]
[ENSMUST00000229304]
[ENSMUST00000229874]
[ENSMUST00000229952]
[ENSMUST00000230305]
[ENSMUST00000230747]
[ENSMUST00000230333]
[ENSMUST00000231105]
[ENSMUST00000230749]
|
AlphaFold |
Q8CI96 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000024854
AA Change: S456N
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000024854 Gene: ENSMUSG00000024059 AA Change: S456N
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 |
noncoding transcript
Transcript: ENSMUST00000229014
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000229304
AA Change: S456N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000229874
AA Change: S456N
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229903
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000229952
AA Change: S409N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
Predicted Effect |
unknown
Transcript: ENSMUST00000230160
AA Change: S148N
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000230305
AA Change: S456N
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000230747
AA Change: S456N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
Predicted Effect |
unknown
Transcript: ENSMUST00000231131
AA Change: S38N
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000230333
AA Change: S456N
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230845
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231105
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230749
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apc |
G |
A |
18: 34,448,687 (GRCm39) |
S1827N |
probably damaging |
Het |
Atrnl1 |
T |
A |
19: 57,680,316 (GRCm39) |
C739S |
probably damaging |
Het |
Cep350 |
T |
C |
1: 155,737,977 (GRCm39) |
E2622G |
possibly damaging |
Het |
Chd5 |
C |
T |
4: 152,440,530 (GRCm39) |
|
probably benign |
Het |
Chst11 |
T |
A |
10: 83,027,563 (GRCm39) |
L330Q |
probably damaging |
Het |
Clcnka |
A |
T |
4: 141,120,094 (GRCm39) |
V275E |
probably damaging |
Het |
Cmya5 |
A |
T |
13: 93,229,361 (GRCm39) |
I1909N |
probably damaging |
Het |
Cyp26b1 |
A |
G |
6: 84,553,626 (GRCm39) |
I176T |
probably damaging |
Het |
Dst |
A |
G |
1: 34,346,668 (GRCm39) |
R7717G |
probably damaging |
Het |
Eml2 |
C |
T |
7: 18,918,846 (GRCm39) |
R99* |
probably null |
Het |
Fibin |
T |
C |
2: 110,192,929 (GRCm39) |
Q71R |
probably benign |
Het |
Fsip2 |
T |
G |
2: 82,812,501 (GRCm39) |
I2940S |
possibly damaging |
Het |
Gabrb3 |
G |
T |
7: 57,241,112 (GRCm39) |
|
probably benign |
Het |
Gfra1 |
G |
A |
19: 58,441,787 (GRCm39) |
T48I |
probably damaging |
Het |
Gm6483 |
C |
T |
8: 19,743,675 (GRCm39) |
|
noncoding transcript |
Het |
Hdgfl1 |
G |
A |
13: 26,953,348 (GRCm39) |
R242C |
possibly damaging |
Het |
Hmcn1 |
T |
C |
1: 150,494,760 (GRCm39) |
T4110A |
probably benign |
Het |
Lama2 |
T |
G |
10: 26,994,489 (GRCm39) |
M1807L |
probably benign |
Het |
Larp4 |
T |
C |
15: 99,888,302 (GRCm39) |
V113A |
possibly damaging |
Het |
Mkx |
T |
C |
18: 7,000,640 (GRCm39) |
T101A |
probably benign |
Het |
Nfe2l1 |
A |
G |
11: 96,718,491 (GRCm39) |
F15L |
probably damaging |
Het |
Nherf2 |
A |
T |
17: 24,860,930 (GRCm39) |
V204E |
probably damaging |
Het |
Nif3l1 |
G |
A |
1: 58,494,895 (GRCm39) |
|
probably null |
Het |
Nop14 |
A |
G |
5: 34,796,565 (GRCm39) |
V764A |
probably damaging |
Het |
Nosip |
C |
A |
7: 44,726,752 (GRCm39) |
A259E |
probably damaging |
Het |
Ntn5 |
T |
C |
7: 45,341,300 (GRCm39) |
|
probably benign |
Het |
Or9g20 |
T |
C |
2: 85,629,934 (GRCm39) |
I227V |
possibly damaging |
Het |
Phospho1 |
G |
A |
11: 95,721,714 (GRCm39) |
G128D |
probably damaging |
Het |
Ppp4r3a |
G |
A |
12: 101,008,770 (GRCm39) |
T703M |
probably benign |
Het |
Pramel21 |
T |
C |
4: 143,342,667 (GRCm39) |
F258S |
possibly damaging |
Het |
Pramel58 |
A |
G |
5: 94,831,730 (GRCm39) |
T246A |
possibly damaging |
Het |
Prdm8 |
G |
A |
5: 98,334,418 (GRCm39) |
E662K |
probably damaging |
Het |
Ralgapa1 |
A |
G |
12: 55,723,202 (GRCm39) |
S1775P |
probably damaging |
Het |
Rapgef6 |
T |
C |
11: 54,540,172 (GRCm39) |
|
probably benign |
Het |
Rasef |
T |
C |
4: 73,677,966 (GRCm39) |
T87A |
possibly damaging |
Het |
Scrn3 |
A |
G |
2: 73,160,215 (GRCm39) |
Q286R |
probably benign |
Het |
Sema3d |
A |
T |
5: 12,620,945 (GRCm39) |
Q517L |
probably benign |
Het |
Taf6l |
T |
C |
19: 8,752,413 (GRCm39) |
Y425C |
probably damaging |
Het |
Tbk1 |
T |
C |
10: 121,403,985 (GRCm39) |
N254S |
possibly damaging |
Het |
Tcf3 |
C |
T |
10: 80,256,925 (GRCm39) |
G64R |
probably damaging |
Het |
Tmco4 |
T |
C |
4: 138,750,380 (GRCm39) |
|
probably null |
Het |
Trappc11 |
A |
G |
8: 47,946,448 (GRCm39) |
|
probably benign |
Het |
Vmn1r19 |
A |
T |
6: 57,382,025 (GRCm39) |
I193F |
possibly damaging |
Het |
Vmn2r14 |
G |
A |
5: 109,367,882 (GRCm39) |
T370I |
probably benign |
Het |
Vmn2r65 |
T |
A |
7: 84,589,381 (GRCm39) |
H845L |
possibly damaging |
Het |
Vmn2r98 |
A |
T |
17: 19,285,521 (GRCm39) |
T114S |
probably benign |
Het |
Zfp280d |
A |
T |
9: 72,242,356 (GRCm39) |
R661S |
probably damaging |
Het |
Zranb1 |
T |
C |
7: 132,568,410 (GRCm39) |
I356T |
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 |
|
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 |
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 |
|
|
Posted On |
2015-04-16 |