Incidental Mutation 'R5298:Clip4'
| ID |
405552 |
| 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 |
042881-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.174)
|
| Stock # |
R5298 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
72076674-72171205 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 72141220 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 525
(N525D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154878
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024854]
[ENSMUST00000229304]
[ENSMUST00000229874]
[ENSMUST00000229952]
[ENSMUST00000230305]
[ENSMUST00000230333]
[ENSMUST00000230747]
[ENSMUST00000231105]
[ENSMUST00000230749]
|
| AlphaFold |
Q8CI96 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024854
AA Change: N525D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000024854
Gene: ENSMUSG00000024059
AA Change: N525D
| 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: N525D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229903
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000229952
AA Change: N478D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000230160
AA Change: N217D
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000230305
AA Change: N525D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000230333
AA Change: N525D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231131
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230845
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230747
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231105
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230749
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ackr4 |
A |
G |
9: 103,976,086 (GRCm39) |
V287A |
possibly damaging |
Het |
| Adat2 |
A |
G |
10: 13,432,650 (GRCm39) |
N51D |
probably benign |
Het |
| Alms1-ps1 |
T |
C |
6: 85,729,100 (GRCm39) |
|
noncoding transcript |
Het |
| Ccdc97 |
A |
G |
7: 25,415,432 (GRCm39) |
V12A |
probably damaging |
Het |
| Cdcp2 |
T |
C |
4: 106,964,182 (GRCm39) |
V344A |
probably benign |
Het |
| Clasp1 |
A |
G |
1: 118,475,650 (GRCm39) |
D929G |
possibly damaging |
Het |
| Csde1 |
T |
A |
3: 102,954,525 (GRCm39) |
|
probably null |
Het |
| D330020A13Rik |
T |
C |
6: 120,271,777 (GRCm39) |
|
probably benign |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Ehmt2 |
C |
T |
17: 35,118,067 (GRCm39) |
R40* |
probably null |
Het |
| Fuca1 |
C |
A |
4: 135,664,237 (GRCm39) |
Y374* |
probably null |
Het |
| Gle1 |
C |
G |
2: 29,838,955 (GRCm39) |
P457A |
probably benign |
Het |
| Hadhb |
T |
C |
5: 30,382,009 (GRCm39) |
|
probably null |
Het |
| Klhl18 |
G |
C |
9: 110,265,195 (GRCm39) |
N335K |
possibly damaging |
Het |
| Lef1 |
A |
T |
3: 130,988,316 (GRCm39) |
R294S |
possibly damaging |
Het |
| Lrriq4 |
G |
T |
3: 30,699,481 (GRCm39) |
M1I |
probably null |
Het |
| Magi2 |
T |
C |
5: 20,774,160 (GRCm39) |
S884P |
probably damaging |
Het |
| Mon2 |
A |
G |
10: 122,846,511 (GRCm39) |
I1353T |
probably benign |
Het |
| Or4c127 |
T |
A |
2: 89,832,804 (GRCm39) |
L18Q |
possibly damaging |
Het |
| Or5p81 |
A |
G |
7: 108,267,279 (GRCm39) |
I219V |
probably benign |
Het |
| Parg |
C |
A |
14: 31,924,210 (GRCm39) |
A3E |
probably damaging |
Het |
| Per3 |
A |
T |
4: 151,113,666 (GRCm39) |
D297E |
probably damaging |
Het |
| Pkhd1l1 |
A |
T |
15: 44,367,442 (GRCm39) |
Y780F |
probably benign |
Het |
| Plcg2 |
A |
G |
8: 118,331,988 (GRCm39) |
Y858C |
probably benign |
Het |
| Prkca |
A |
T |
11: 107,903,510 (GRCm39) |
N287K |
probably damaging |
Het |
| Qsox2 |
A |
C |
2: 26,104,074 (GRCm39) |
S484A |
probably damaging |
Het |
| Reep4 |
G |
A |
14: 70,785,637 (GRCm39) |
G225D |
possibly damaging |
Het |
| Scn4a |
T |
C |
11: 106,230,212 (GRCm39) |
E532G |
probably damaging |
Het |
| Sfi1 |
A |
ATCTTCCCAAAGCCAGTGC |
11: 3,103,384 (GRCm39) |
|
probably benign |
Het |
| Slc23a1 |
A |
G |
18: 35,755,563 (GRCm39) |
|
probably null |
Het |
| Sowaha |
C |
T |
11: 53,370,355 (GRCm39) |
R127Q |
probably benign |
Het |
| Spag9 |
T |
C |
11: 93,990,961 (GRCm39) |
W626R |
probably damaging |
Het |
| Tasor2 |
T |
C |
13: 3,645,613 (GRCm39) |
|
probably null |
Het |
| Trim45 |
A |
G |
3: 100,832,787 (GRCm39) |
D340G |
probably damaging |
Het |
| Vmn1r193 |
A |
T |
13: 22,403,725 (GRCm39) |
F89Y |
probably damaging |
Het |
| Zfp507 |
T |
C |
7: 35,475,421 (GRCm39) |
N931D |
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 |
|
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'- TATGCCACTGAAACGTTTCTCC -3'
(R):5'- GCCTGTGCTTATCTTCCAGATG -3'
Sequencing Primer
(F):5'- CATCTGAGAGCTTAATGATCATGATG -3'
(R):5'- TCCAGATGGAATCGGGGACC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation