Incidental Mutation 'R5913:Clip4'
| ID |
461149 |
| 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 |
044110-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.174)
|
| Stock # |
R5913 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
72076674-72171205 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 72131760 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Lysine
at position 366
(R366K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154969
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024854]
[ENSMUST00000229304]
[ENSMUST00000229874]
[ENSMUST00000229952]
[ENSMUST00000230305]
[ENSMUST00000230749]
[ENSMUST00000230747]
[ENSMUST00000230333]
[ENSMUST00000231105]
|
| AlphaFold |
Q8CI96 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024854
AA Change: R366K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000024854
Gene: ENSMUSG00000024059
AA Change: R366K
| 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
AA Change: R366K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229874
AA Change: R366K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229952
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000230160
AA Change: R58K
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230305
AA Change: R366K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230749
AA Change: R366K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230747
AA Change: R366K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230333
AA Change: R366K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231105
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230845
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231131
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.3%
|
| Validation Efficiency |
97% (75/77) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Als2cl |
A |
T |
9: 110,718,773 (GRCm39) |
|
probably null |
Het |
| Arhgef19 |
A |
T |
4: 140,976,609 (GRCm39) |
H457L |
probably benign |
Het |
| Armc3 |
A |
G |
2: 19,314,858 (GRCm39) |
Y856C |
possibly damaging |
Het |
| Bdp1 |
A |
T |
13: 100,187,612 (GRCm39) |
V1585D |
probably benign |
Het |
| Bhlhe40 |
T |
G |
6: 108,642,154 (GRCm39) |
M366R |
possibly damaging |
Het |
| Bora |
C |
T |
14: 99,305,948 (GRCm39) |
S439L |
probably benign |
Het |
| Cacnb4 |
G |
A |
2: 52,324,796 (GRCm39) |
|
probably benign |
Het |
| Carm1 |
T |
C |
9: 21,498,848 (GRCm39) |
S529P |
probably benign |
Het |
| Cd200r1 |
A |
G |
16: 44,610,034 (GRCm39) |
I84M |
possibly damaging |
Het |
| Cd209a |
A |
G |
8: 3,798,742 (GRCm39) |
S22P |
probably benign |
Het |
| Celf2 |
A |
T |
2: 7,085,969 (GRCm39) |
M1K |
probably null |
Het |
| Cep112 |
A |
G |
11: 108,648,514 (GRCm39) |
T783A |
probably damaging |
Het |
| Cep95 |
T |
C |
11: 106,709,335 (GRCm39) |
|
probably benign |
Het |
| Csmd2 |
A |
G |
4: 128,445,781 (GRCm39) |
K3284E |
probably benign |
Het |
| Csn3 |
T |
A |
5: 88,075,470 (GRCm39) |
L12Q |
probably damaging |
Het |
| Ctdnep1 |
T |
C |
11: 69,879,691 (GRCm39) |
L39P |
probably damaging |
Het |
| Cxcl17 |
C |
T |
7: 25,101,671 (GRCm39) |
W55* |
probably null |
Het |
| Cyp2u1 |
G |
A |
3: 131,096,860 (GRCm39) |
|
probably benign |
Het |
| Dmgdh |
A |
T |
13: 93,888,831 (GRCm39) |
E823V |
possibly damaging |
Het |
| Dnah2 |
T |
C |
11: 69,339,256 (GRCm39) |
I3078V |
probably damaging |
Het |
| Dpp10 |
A |
C |
1: 123,312,018 (GRCm39) |
Y446D |
probably damaging |
Het |
| Eif2s3y |
T |
C |
Y: 1,017,365 (GRCm39) |
V290A |
probably benign |
Homo |
| Fktn |
G |
A |
4: 53,735,035 (GRCm39) |
W224* |
probably null |
Het |
| Gm37240 |
T |
C |
3: 84,874,905 (GRCm39) |
|
probably benign |
Het |
| Gpr3 |
A |
G |
4: 132,938,489 (GRCm39) |
V61A |
probably damaging |
Het |
| Gulo |
T |
C |
14: 66,237,470 (GRCm39) |
|
probably null |
Het |
| Hax1 |
GTCATCATCATCATCATC |
GTCATCATCATCATCATCATC |
3: 89,905,247 (GRCm39) |
|
probably benign |
Het |
| Hectd4 |
T |
A |
5: 121,462,037 (GRCm39) |
I968K |
possibly damaging |
Het |
| Hmox2 |
G |
T |
16: 4,582,732 (GRCm39) |
R155L |
probably damaging |
Het |
| Ifnlr1 |
C |
A |
4: 135,432,580 (GRCm39) |
Q339K |
probably damaging |
Het |
| Ifnlr1 |
A |
T |
4: 135,432,581 (GRCm39) |
Q339L |
probably damaging |
Het |
| Irf4 |
T |
A |
13: 30,941,741 (GRCm39) |
S365T |
probably benign |
Het |
| Klrb1a |
T |
G |
6: 128,595,472 (GRCm39) |
D124A |
probably damaging |
Het |
| Macf1 |
A |
T |
4: 123,369,832 (GRCm39) |
I78N |
probably damaging |
Het |
| Mctp1 |
G |
T |
13: 76,907,944 (GRCm39) |
|
probably null |
Het |
| Muc21 |
C |
T |
17: 35,934,123 (GRCm39) |
|
probably benign |
Het |
| Mxra8 |
A |
T |
4: 155,927,760 (GRCm39) |
|
probably null |
Het |
| Nlrp2 |
T |
A |
7: 5,327,902 (GRCm39) |
|
probably null |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| P2ry13 |
T |
C |
3: 59,116,786 (GRCm39) |
T331A |
probably benign |
Het |
| Padi2 |
G |
A |
4: 140,644,952 (GRCm39) |
R62H |
probably benign |
Het |
| Pcdhb15 |
A |
T |
18: 37,607,707 (GRCm39) |
Q313L |
probably benign |
Het |
| Pcdhga11 |
A |
G |
18: 37,889,045 (GRCm39) |
I18V |
probably benign |
Het |
| Pcdhga11 |
A |
G |
18: 37,891,142 (GRCm39) |
R717G |
probably benign |
Het |
| Pcif1 |
C |
A |
2: 164,726,412 (GRCm39) |
|
probably benign |
Het |
| Pkd1l1 |
T |
C |
11: 8,813,849 (GRCm39) |
T1501A |
probably benign |
Het |
| Plekhg2 |
C |
A |
7: 28,064,027 (GRCm39) |
R473L |
probably damaging |
Het |
| Plekhn1 |
T |
C |
4: 156,307,152 (GRCm39) |
Y466C |
probably damaging |
Het |
| Sec22c |
A |
G |
9: 121,519,368 (GRCm39) |
S83P |
possibly damaging |
Het |
| Sgcz |
T |
A |
8: 37,993,425 (GRCm39) |
Q224L |
possibly damaging |
Het |
| Slc27a1 |
C |
T |
8: 72,036,907 (GRCm39) |
P381L |
probably benign |
Het |
| Slc8a1 |
T |
A |
17: 81,955,431 (GRCm39) |
I536F |
probably damaging |
Het |
| Src |
T |
A |
2: 157,307,950 (GRCm39) |
|
probably null |
Het |
| Sybu |
T |
A |
15: 44,651,017 (GRCm39) |
T96S |
probably damaging |
Het |
| Tbc1d22a |
T |
C |
15: 86,235,929 (GRCm39) |
Y363H |
probably damaging |
Het |
| Tdrd6 |
T |
C |
17: 43,939,302 (GRCm39) |
E582G |
possibly damaging |
Het |
| Tmem131 |
C |
A |
1: 36,858,209 (GRCm39) |
V713L |
probably benign |
Het |
| Tnfsf13b |
T |
A |
8: 10,056,988 (GRCm39) |
L49Q |
probably damaging |
Het |
| Trem2 |
T |
A |
17: 48,653,661 (GRCm39) |
|
probably benign |
Het |
| Tspyl3 |
T |
A |
2: 153,066,636 (GRCm39) |
M201L |
probably benign |
Het |
| Ttl |
A |
G |
2: 128,917,961 (GRCm39) |
D141G |
probably benign |
Het |
| Ube2z |
A |
G |
11: 95,951,889 (GRCm39) |
V153A |
possibly damaging |
Het |
| Ubr3 |
A |
G |
2: 69,851,559 (GRCm39) |
Y1842C |
probably damaging |
Het |
| Usp33 |
T |
C |
3: 152,086,229 (GRCm39) |
V656A |
probably damaging |
Het |
| Vmn2r74 |
G |
A |
7: 85,601,098 (GRCm39) |
R847C |
probably damaging |
Het |
| Vmo1 |
A |
T |
11: 70,405,241 (GRCm39) |
V63D |
probably damaging |
Het |
| Zcwpw1 |
T |
A |
5: 137,798,269 (GRCm39) |
D155E |
probably benign |
Het |
| Zeb1 |
T |
G |
18: 5,766,765 (GRCm39) |
S425R |
possibly 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 |
|
|
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'- CAAGATGCATGGTGGGTACG -3'
(R):5'- GTCATATTCATAACTGAGGCCCAAG -3'
Sequencing Primer
(F):5'- TACGGACAGAGGTAGCCTG -3'
(R):5'- CACCAAGGCCTTGCTTTTGTGAG -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation