Incidental Mutation 'R6371:Clip4'
| ID |
513546 |
| 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 |
044521-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.174)
|
| Stock # |
R6371 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
72076674-72171205 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 72163459 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Threonine
at position 677
(K677T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024854
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024854]
[ENSMUST00000229874]
[ENSMUST00000230290]
[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 damaging
Transcript: ENSMUST00000024854
AA Change: K677T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000024854
Gene: ENSMUSG00000024059
AA Change: K677T
| 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: ENSMUST00000229874
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229903
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230160
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230290
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230747
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230749
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231105
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230845
|
| Meta Mutation Damage Score |
0.2841 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.7%
- 10x: 98.2%
- 20x: 94.1%
|
| Validation Efficiency |
98% (50/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6b |
C |
T |
12: 113,453,894 (GRCm39) |
S237L |
probably damaging |
Het |
| Ank3 |
T |
G |
10: 69,644,709 (GRCm39) |
L58V |
probably damaging |
Het |
| Arsb |
A |
T |
13: 93,926,574 (GRCm39) |
I115F |
possibly damaging |
Het |
| Atad2b |
T |
C |
12: 5,023,970 (GRCm39) |
Y32H |
probably damaging |
Het |
| Brd1 |
A |
C |
15: 88,598,201 (GRCm39) |
M515R |
probably benign |
Het |
| Cbx7 |
A |
G |
15: 79,803,023 (GRCm39) |
S30P |
possibly damaging |
Het |
| Cdk12 |
A |
G |
11: 98,136,114 (GRCm39) |
T1123A |
unknown |
Het |
| Cep170b |
A |
G |
12: 112,707,379 (GRCm39) |
D375G |
probably damaging |
Het |
| Clcn3 |
T |
C |
8: 61,390,369 (GRCm39) |
K164E |
probably benign |
Het |
| Clrn2 |
T |
C |
5: 45,617,540 (GRCm39) |
I137T |
possibly damaging |
Het |
| Cntln |
T |
C |
4: 84,802,816 (GRCm39) |
S39P |
probably damaging |
Het |
| Crocc2 |
T |
A |
1: 93,143,353 (GRCm39) |
N1318K |
probably benign |
Het |
| Emc1 |
C |
T |
4: 139,098,976 (GRCm39) |
Q820* |
probably null |
Het |
| Fbxl2 |
G |
A |
9: 113,818,451 (GRCm39) |
T170I |
probably damaging |
Het |
| Fyb2 |
A |
G |
4: 104,852,975 (GRCm39) |
T552A |
probably damaging |
Het |
| Garin5b |
A |
G |
7: 4,762,358 (GRCm39) |
V257A |
probably benign |
Het |
| Gm2381 |
G |
A |
7: 42,470,010 (GRCm39) |
A38V |
probably benign |
Het |
| Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
| Helz2 |
C |
T |
2: 180,875,260 (GRCm39) |
E1745K |
probably damaging |
Het |
| Hspg2 |
T |
C |
4: 137,269,006 (GRCm39) |
Y2213H |
probably damaging |
Het |
| Ifnar2 |
T |
C |
16: 91,184,986 (GRCm39) |
Y24H |
possibly damaging |
Het |
| Inpp5d |
T |
A |
1: 87,627,397 (GRCm39) |
L566Q |
probably damaging |
Het |
| Itgb2 |
C |
A |
10: 77,384,431 (GRCm39) |
P184H |
probably damaging |
Het |
| Kcnb2 |
T |
A |
1: 15,781,436 (GRCm39) |
D769E |
probably benign |
Het |
| Lrp1b |
A |
G |
2: 40,741,666 (GRCm39) |
M3087T |
possibly damaging |
Het |
| Ltbp3 |
A |
G |
19: 5,795,800 (GRCm39) |
|
probably null |
Het |
| Ms4a6b |
A |
G |
19: 11,497,728 (GRCm39) |
E9G |
probably damaging |
Het |
| Nat3 |
G |
A |
8: 67,976,831 (GRCm39) |
|
probably null |
Het |
| Ndufaf1 |
A |
T |
2: 119,490,534 (GRCm39) |
D175E |
probably damaging |
Het |
| Nop58 |
T |
G |
1: 59,750,471 (GRCm39) |
|
probably benign |
Het |
| Or10al6 |
A |
G |
17: 38,083,326 (GRCm39) |
T261A |
probably benign |
Het |
| Or8s16 |
A |
G |
15: 98,211,219 (GRCm39) |
Y71H |
possibly damaging |
Het |
| P3h4 |
C |
T |
11: 100,302,575 (GRCm39) |
E354K |
probably benign |
Het |
| Plekhm2 |
T |
G |
4: 141,356,843 (GRCm39) |
T787P |
possibly damaging |
Het |
| Ppia |
C |
T |
11: 6,368,230 (GRCm39) |
T37I |
probably benign |
Het |
| Reln |
T |
A |
5: 22,200,511 (GRCm39) |
M1330L |
probably benign |
Het |
| Ric1 |
A |
G |
19: 29,539,426 (GRCm39) |
E53G |
probably benign |
Het |
| Sgip1 |
T |
A |
4: 102,823,482 (GRCm39) |
V721E |
probably damaging |
Het |
| Slc33a1 |
A |
T |
3: 63,850,709 (GRCm39) |
D538E |
probably benign |
Het |
| Son |
T |
C |
16: 91,471,629 (GRCm39) |
|
|
Het |
| Srebf1 |
A |
T |
11: 60,094,341 (GRCm39) |
S591R |
probably damaging |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Taok2 |
G |
A |
7: 126,469,319 (GRCm39) |
R1170W |
probably damaging |
Het |
| Tsc2 |
A |
T |
17: 24,845,688 (GRCm39) |
V210E |
probably benign |
Het |
| Ttc6 |
T |
A |
12: 57,775,249 (GRCm39) |
N1648K |
possibly damaging |
Het |
| Vgll3 |
C |
T |
16: 65,636,131 (GRCm39) |
P94L |
probably damaging |
Het |
| Vmn2r54 |
A |
T |
7: 12,349,362 (GRCm39) |
V740E |
probably damaging |
Het |
| Yeats2 |
A |
G |
16: 20,040,460 (GRCm39) |
E1127G |
possibly damaging |
Het |
| Zfp709 |
T |
A |
8: 72,643,329 (GRCm39) |
Y252N |
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 |
|
|
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'- GAAACTGCATCCCGTGACTC -3'
(R):5'- AAGTAAACCCTTTGTCATAGGCC -3'
Sequencing Primer
(F):5'- CGTGACTCCAGTACCTAAGTC -3'
(R):5'- ATAGGCCTTATTTTTCATCTAGCAC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation