Incidental Mutation 'R3701:Clip4'
| ID |
258544 |
| 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 |
040694-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.174)
|
| Stock # |
R3701 (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 72106003 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 62
(D62G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155130
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024854]
[ENSMUST00000229288]
[ENSMUST00000229304]
[ENSMUST00000229874]
[ENSMUST00000229952]
[ENSMUST00000230305]
[ENSMUST00000230333]
[ENSMUST00000231105]
[ENSMUST00000230427]
[ENSMUST00000230749]
[ENSMUST00000230747]
|
| AlphaFold |
Q8CI96 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024854
AA Change: D62G
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000024854
Gene: ENSMUSG00000024059
AA Change: D62G
| 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 |
probably damaging
Transcript: ENSMUST00000229288
AA Change: D62G
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229304
AA Change: D62G
PolyPhen 2
Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229874
AA Change: D62G
PolyPhen 2
Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000229952
AA Change: D62G
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230305
AA Change: D62G
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230333
AA Change: D62G
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231105
AA Change: D62G
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000230427
AA Change: D62G
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000230749
AA Change: D62G
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230747
AA Change: D62G
PolyPhen 2
Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230700
|
| Meta Mutation Damage Score |
0.2032 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
97% (37/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb1 |
A |
C |
15: 74,416,864 (GRCm39) |
K757T |
probably damaging |
Het |
| Akr1c19 |
C |
T |
13: 4,293,032 (GRCm39) |
R263C |
probably damaging |
Het |
| Asxl1 |
A |
G |
2: 153,241,264 (GRCm39) |
T605A |
probably benign |
Het |
| Cacna1i |
A |
T |
15: 80,265,272 (GRCm39) |
|
probably benign |
Het |
| Cstf1 |
A |
G |
2: 172,222,312 (GRCm39) |
T357A |
probably benign |
Het |
| Cul5 |
T |
C |
9: 53,540,516 (GRCm39) |
K499E |
probably damaging |
Het |
| Cyld |
T |
A |
8: 89,456,179 (GRCm39) |
S407T |
probably benign |
Het |
| Dnph1 |
G |
A |
17: 46,809,637 (GRCm39) |
G101S |
possibly damaging |
Het |
| Entrep1 |
T |
C |
19: 23,956,831 (GRCm39) |
E354G |
probably benign |
Het |
| Esp38 |
A |
T |
17: 40,266,112 (GRCm39) |
R74* |
probably null |
Het |
| Fdxr |
A |
T |
11: 115,160,527 (GRCm39) |
L336Q |
probably damaging |
Het |
| Hivep1 |
T |
C |
13: 42,311,203 (GRCm39) |
S1148P |
probably benign |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Itgb1bp2 |
T |
C |
X: 100,495,293 (GRCm39) |
|
probably benign |
Het |
| Kcnj5 |
T |
C |
9: 32,229,124 (GRCm39) |
T25A |
possibly damaging |
Het |
| Lyn |
A |
G |
4: 3,742,455 (GRCm39) |
H28R |
probably benign |
Het |
| Nbeal1 |
C |
T |
1: 60,290,572 (GRCm39) |
|
probably benign |
Het |
| Nmur2 |
A |
G |
11: 55,931,603 (GRCm39) |
L36P |
probably damaging |
Het |
| Or14j3 |
G |
A |
17: 37,900,717 (GRCm39) |
Q176* |
probably null |
Het |
| Or6c5c |
A |
T |
10: 129,298,821 (GRCm39) |
Y92F |
probably damaging |
Het |
| Or9i14 |
T |
G |
19: 13,792,712 (GRCm39) |
I81L |
probably benign |
Het |
| Pdgfra |
T |
A |
5: 75,340,881 (GRCm39) |
Y613* |
probably null |
Het |
| Phka2 |
T |
C |
X: 159,316,045 (GRCm39) |
V230A |
possibly damaging |
Het |
| Pkd2l1 |
A |
G |
19: 44,145,666 (GRCm39) |
S186P |
probably damaging |
Het |
| Skic3 |
T |
C |
13: 76,261,798 (GRCm39) |
I171T |
probably benign |
Het |
| Snx14 |
T |
C |
9: 88,302,296 (GRCm39) |
|
probably benign |
Het |
| Tex15 |
T |
C |
8: 34,064,194 (GRCm39) |
V1208A |
probably benign |
Het |
| Tmf1 |
A |
G |
6: 97,149,292 (GRCm39) |
F485S |
possibly damaging |
Het |
| Tnfsf4 |
G |
A |
1: 161,244,778 (GRCm39) |
V156I |
possibly damaging |
Het |
| Trdn |
C |
A |
10: 33,210,980 (GRCm39) |
Q391K |
probably damaging |
Het |
| Ttc34 |
T |
C |
4: 154,949,939 (GRCm39) |
F964S |
probably damaging |
Het |
| Vmn2r104 |
A |
G |
17: 20,249,818 (GRCm39) |
S818P |
probably damaging |
Het |
| Zbed5 |
G |
A |
5: 129,932,000 (GRCm39) |
D650N |
possibly damaging |
Het |
| Zfp446 |
G |
A |
7: 12,712,079 (GRCm39) |
|
probably benign |
Het |
| Zfp592 |
C |
T |
7: 80,687,159 (GRCm39) |
R821* |
probably null |
Het |
| Zfp647 |
G |
A |
15: 76,795,110 (GRCm39) |
R517W |
probably damaging |
Het |
| Zfp983 |
G |
C |
17: 21,880,455 (GRCm39) |
E128Q |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGACACATTAAGCATGCCTC -3'
(R):5'- ACAGAGCTGTGACTGGCTTC -3'
Sequencing Primer
(F):5'- GACACATTAAGCATGCCTCATTCTTG -3'
(R):5'- GAGCTGTGACTGGCTTCTCCTC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation