Incidental Mutation 'R4837:Clip4'
| ID |
374375 |
| 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 |
042452-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.142)
|
| Stock # |
R4837 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
72076674-72171205 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 72141217 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 524
(K524E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154878
(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: K524E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000024854
Gene: ENSMUSG00000024059
AA Change: K524E
| 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 benign
Transcript: ENSMUST00000229304
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000229874
AA Change: K524E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229903
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000229952
AA Change: K477E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000230160
AA Change: K216E
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000230305
AA Change: K524E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000230333
AA Change: K524E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230749
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230747
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230845
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231131
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231105
|
| Meta Mutation Damage Score |
0.9672 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
| Validation Efficiency |
99% (75/76) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
T |
7: 119,846,203 (GRCm39) |
H618L |
probably benign |
Het |
| Adgrl3 |
A |
G |
5: 81,914,081 (GRCm39) |
T1230A |
probably benign |
Het |
| Ahnak2 |
A |
G |
12: 112,749,359 (GRCm39) |
S203P |
probably benign |
Het |
| Allc |
A |
G |
12: 28,609,308 (GRCm39) |
V244A |
probably benign |
Het |
| Ap3m1 |
G |
A |
14: 21,087,225 (GRCm39) |
P157L |
probably damaging |
Het |
| Arhgef2 |
T |
G |
3: 88,540,250 (GRCm39) |
I97S |
probably damaging |
Het |
| Btaf1 |
C |
A |
19: 36,944,185 (GRCm39) |
T398K |
probably benign |
Het |
| Cabp1 |
T |
C |
5: 115,311,212 (GRCm39) |
M158V |
probably damaging |
Het |
| Ccdc162 |
G |
A |
10: 41,549,863 (GRCm39) |
P340L |
probably benign |
Het |
| Ccdc168 |
G |
A |
1: 44,100,594 (GRCm39) |
T168I |
possibly damaging |
Het |
| Cltc |
A |
G |
11: 86,586,474 (GRCm39) |
V189A |
probably benign |
Het |
| Cmc2 |
A |
G |
8: 117,620,879 (GRCm39) |
F34S |
probably damaging |
Het |
| Ctcfl |
G |
T |
2: 172,955,449 (GRCm39) |
T271N |
probably benign |
Het |
| Cyp4f16 |
T |
A |
17: 32,761,738 (GRCm39) |
F124I |
possibly damaging |
Het |
| Ddx41 |
C |
A |
13: 55,679,461 (GRCm39) |
R479L |
possibly damaging |
Het |
| Dgcr6 |
C |
A |
16: 17,884,710 (GRCm39) |
N87K |
possibly damaging |
Het |
| Dll1 |
A |
G |
17: 15,589,121 (GRCm39) |
L518P |
probably damaging |
Het |
| Dnaja4 |
G |
T |
9: 54,617,928 (GRCm39) |
M263I |
probably benign |
Het |
| Dusp13b |
T |
A |
14: 21,793,593 (GRCm39) |
|
probably benign |
Het |
| Fam185a |
T |
A |
5: 21,685,375 (GRCm39) |
I357N |
probably benign |
Het |
| Fam186a |
T |
C |
15: 99,838,678 (GRCm39) |
Y2522C |
unknown |
Het |
| Fam222a |
T |
A |
5: 114,732,458 (GRCm39) |
C4* |
probably null |
Het |
| Filip1 |
T |
C |
9: 79,726,741 (GRCm39) |
D626G |
probably damaging |
Het |
| Ghrhr |
C |
T |
6: 55,365,172 (GRCm39) |
R389C |
probably damaging |
Het |
| Gstm3 |
T |
A |
3: 107,871,531 (GRCm39) |
T217S |
probably benign |
Het |
| Gucy2g |
T |
C |
19: 55,214,485 (GRCm39) |
T548A |
probably benign |
Het |
| Hectd3 |
T |
A |
4: 116,859,794 (GRCm39) |
C744S |
probably null |
Het |
| Hnrnpl |
T |
C |
7: 28,516,762 (GRCm39) |
S184P |
probably benign |
Het |
| Il3 |
G |
A |
11: 54,158,083 (GRCm39) |
|
probably benign |
Het |
| Itga5 |
C |
T |
15: 103,262,511 (GRCm39) |
G330S |
probably damaging |
Het |
| Kl |
A |
G |
5: 150,904,312 (GRCm39) |
T355A |
possibly damaging |
Het |
| Lipk |
A |
C |
19: 34,009,720 (GRCm39) |
S208R |
probably damaging |
Het |
| Mrs2 |
T |
A |
13: 25,183,040 (GRCm39) |
|
probably null |
Het |
| Mutyh |
A |
G |
4: 116,674,887 (GRCm39) |
E372G |
probably damaging |
Het |
| Myh4 |
C |
A |
11: 67,149,818 (GRCm39) |
A1821D |
probably benign |
Het |
| Nfkb2 |
G |
T |
19: 46,296,006 (GRCm39) |
E170D |
probably benign |
Het |
| Nlrp12 |
T |
C |
7: 3,279,693 (GRCm39) |
E881G |
probably damaging |
Het |
| Nol9 |
T |
C |
4: 152,136,552 (GRCm39) |
|
probably benign |
Het |
| Nwd1 |
A |
G |
8: 73,383,759 (GRCm39) |
E52G |
probably damaging |
Het |
| Opn4 |
A |
G |
14: 34,318,261 (GRCm39) |
V242A |
probably damaging |
Het |
| Or4e1 |
A |
T |
14: 52,701,103 (GRCm39) |
M121K |
probably damaging |
Het |
| Or4k44 |
T |
A |
2: 111,368,319 (GRCm39) |
H105L |
probably damaging |
Het |
| Or5m13 |
A |
G |
2: 85,748,748 (GRCm39) |
T160A |
probably benign |
Het |
| Or6b1 |
T |
G |
6: 42,814,783 (GRCm39) |
|
probably null |
Het |
| Or6b2b |
A |
G |
1: 92,418,697 (GRCm39) |
V260A |
probably benign |
Het |
| Paxbp1 |
G |
A |
16: 90,831,866 (GRCm39) |
Q341* |
probably null |
Het |
| Pcdh7 |
T |
C |
5: 57,877,753 (GRCm39) |
V436A |
possibly damaging |
Het |
| Pcdhb18 |
G |
A |
18: 37,622,867 (GRCm39) |
V66M |
probably damaging |
Het |
| Pikfyve |
A |
G |
1: 65,285,749 (GRCm39) |
E951G |
possibly damaging |
Het |
| Plcg1 |
A |
G |
2: 160,592,906 (GRCm39) |
N179S |
probably benign |
Het |
| Prr11 |
A |
C |
11: 86,989,517 (GRCm39) |
S285A |
probably benign |
Het |
| Ranbp17 |
A |
G |
11: 33,278,451 (GRCm39) |
S139P |
probably damaging |
Het |
| Rasa4 |
G |
A |
5: 136,120,664 (GRCm39) |
|
probably null |
Het |
| Rnf213 |
G |
C |
11: 119,333,589 (GRCm39) |
G2934R |
probably benign |
Het |
| Rpap1 |
A |
G |
2: 119,608,732 (GRCm39) |
V210A |
probably benign |
Het |
| Rpn1 |
T |
A |
6: 88,067,187 (GRCm39) |
N182K |
probably benign |
Het |
| Rps24 |
C |
T |
14: 24,541,855 (GRCm39) |
T14I |
possibly damaging |
Het |
| Rrp12 |
C |
T |
19: 41,865,944 (GRCm39) |
|
probably null |
Het |
| Rttn |
T |
A |
18: 89,108,539 (GRCm39) |
|
probably null |
Het |
| Rufy1 |
A |
G |
11: 50,292,320 (GRCm39) |
S490P |
probably damaging |
Het |
| Sec62 |
T |
A |
3: 30,864,018 (GRCm39) |
M100K |
unknown |
Het |
| Spata16 |
A |
G |
3: 26,787,081 (GRCm39) |
H253R |
possibly damaging |
Het |
| Srcap |
T |
C |
7: 127,158,134 (GRCm39) |
|
probably benign |
Het |
| Srrm1 |
A |
G |
4: 135,072,823 (GRCm39) |
|
probably benign |
Het |
| Tbcd |
G |
A |
11: 121,473,611 (GRCm39) |
|
probably null |
Het |
| Tedc2 |
C |
A |
17: 24,439,567 (GRCm39) |
A25S |
probably damaging |
Het |
| Tnr |
A |
T |
1: 159,512,358 (GRCm39) |
|
probably benign |
Het |
| Tnxb |
A |
C |
17: 34,936,981 (GRCm39) |
D3730A |
probably damaging |
Het |
| Tor2a |
G |
A |
2: 32,650,609 (GRCm39) |
G201D |
probably damaging |
Het |
| Tpp1 |
T |
C |
7: 105,395,856 (GRCm39) |
T558A |
probably benign |
Het |
| Vmn1r211 |
G |
T |
13: 23,036,296 (GRCm39) |
Q124K |
probably benign |
Het |
| Wasf3 |
T |
C |
5: 146,397,788 (GRCm39) |
V185A |
probably benign |
Het |
| Zbtb12 |
A |
G |
17: 35,114,985 (GRCm39) |
T257A |
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCACTGAAACGTTTCTCC -3'
(R):5'- GCCTGTGCTTATCTTCCAGATG -3'
Sequencing Primer
(F):5'- CATCTGAGAGCTTAATGATCATGATG -3'
(R):5'- TCCAGATGGAATCGGGGACC -3'
|
| Posted On |
2016-03-01 |
Incidental Mutation