Incidental Mutation 'R9198:Clip4'
| ID |
698076 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.174)
|
| Stock # |
R9198 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
72076674-72171205 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 72117884 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 310
(G310R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024854
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024854]
[ENSMUST00000229304]
[ENSMUST00000229874]
[ENSMUST00000229952]
[ENSMUST00000230305]
[ENSMUST00000230333]
[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: G310R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000024854
Gene: ENSMUSG00000024059
AA Change: G310R
| 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: ENSMUST00000229304
AA Change: G310R
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000229874
AA Change: G310R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000229952
AA Change: G310R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000230305
AA Change: G310R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000230333
AA Change: G310R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000230747
AA Change: G310R
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000230749
AA Change: G310R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231105
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.5%
|
| Validation Efficiency |
97% (61/63) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
A |
G |
5: 8,167,583 (GRCm39) |
|
probably null |
Het |
| Adamts9 |
A |
T |
6: 92,837,170 (GRCm39) |
S1164T |
probably benign |
Het |
| Bcat1 |
A |
T |
6: 144,985,222 (GRCm39) |
I140N |
probably damaging |
Het |
| Bod1l |
T |
C |
5: 41,957,129 (GRCm39) |
T2832A |
probably benign |
Het |
| Brca2 |
A |
T |
5: 150,459,977 (GRCm39) |
E417D |
possibly damaging |
Het |
| Ccdc88b |
T |
C |
19: 6,831,268 (GRCm39) |
D558G |
possibly damaging |
Het |
| Ccdc88b |
T |
C |
19: 6,833,213 (GRCm39) |
E278G |
probably damaging |
Het |
| Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
| Cenpf |
G |
T |
1: 189,388,987 (GRCm39) |
T1615K |
probably damaging |
Het |
| Cep250 |
T |
C |
2: 155,830,354 (GRCm39) |
|
probably null |
Het |
| Clec4d |
T |
C |
6: 123,251,757 (GRCm39) |
F213S |
probably damaging |
Het |
| Csmd1 |
G |
A |
8: 15,962,430 (GRCm39) |
R3255W |
probably damaging |
Het |
| Ctsm |
T |
C |
13: 61,687,612 (GRCm39) |
D82G |
probably damaging |
Het |
| Cyp26a1 |
A |
G |
19: 37,686,790 (GRCm39) |
T81A |
probably damaging |
Het |
| Dld |
A |
G |
12: 31,390,885 (GRCm39) |
V187A |
probably benign |
Het |
| Dmrt2 |
T |
A |
19: 25,655,477 (GRCm39) |
Y359N |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,846,570 (GRCm39) |
N2914S |
probably benign |
Het |
| Dpyd |
A |
T |
3: 118,553,303 (GRCm39) |
|
probably null |
Het |
| Fgl2 |
A |
C |
5: 21,577,920 (GRCm39) |
Q69P |
probably damaging |
Het |
| Gadd45gip1 |
A |
T |
8: 85,560,780 (GRCm39) |
I132F |
probably damaging |
Het |
| Gm15446 |
T |
C |
5: 110,090,743 (GRCm39) |
C332R |
probably damaging |
Het |
| Gm15737 |
A |
T |
6: 92,856,640 (GRCm39) |
E23V |
unknown |
Het |
| Gm5111 |
A |
G |
6: 48,567,037 (GRCm39) |
H84R |
unknown |
Het |
| Golga3 |
G |
A |
5: 110,355,619 (GRCm39) |
S991N |
probably benign |
Het |
| H2-M10.3 |
A |
G |
17: 36,678,919 (GRCm39) |
Y50H |
probably damaging |
Het |
| Hivep2 |
C |
T |
10: 14,005,621 (GRCm39) |
H740Y |
probably benign |
Het |
| Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
| Ints7 |
T |
A |
1: 191,351,872 (GRCm39) |
S860R |
probably benign |
Het |
| Lipi |
T |
A |
16: 75,362,461 (GRCm39) |
T217S |
possibly damaging |
Het |
| Lrrc2 |
G |
T |
9: 110,791,722 (GRCm39) |
C158F |
probably benign |
Het |
| Lrrc30 |
T |
C |
17: 67,938,854 (GRCm39) |
D242G |
probably benign |
Het |
| Map1a |
A |
T |
2: 121,133,854 (GRCm39) |
M1557L |
probably benign |
Het |
| Matn2 |
A |
G |
15: 34,423,924 (GRCm39) |
E594G |
probably damaging |
Het |
| Mfsd12 |
T |
C |
10: 81,198,544 (GRCm39) |
L345P |
probably damaging |
Het |
| Mmp24 |
A |
G |
2: 155,640,041 (GRCm39) |
R124G |
probably benign |
Het |
| Ngef |
T |
A |
1: 87,406,797 (GRCm39) |
H240L |
unknown |
Het |
| Nmur1 |
T |
G |
1: 86,315,256 (GRCm39) |
D203A |
probably benign |
Het |
| Nt5c3 |
T |
C |
6: 56,859,955 (GRCm39) |
Q328R |
probably benign |
Het |
| Ogfr |
T |
C |
2: 180,232,850 (GRCm39) |
|
probably null |
Het |
| Or4k1 |
A |
T |
14: 50,377,990 (GRCm39) |
Y35* |
probably null |
Het |
| Or52ac1 |
T |
A |
7: 104,245,635 (GRCm39) |
Y251F |
probably damaging |
Het |
| Or5h19 |
A |
G |
16: 58,856,263 (GRCm39) |
V279A |
probably benign |
Het |
| Osbpl10 |
G |
A |
9: 115,061,211 (GRCm39) |
W588* |
probably null |
Het |
| Pask |
A |
T |
1: 93,265,205 (GRCm39) |
S17T |
possibly damaging |
Het |
| Pfkfb3 |
C |
T |
2: 11,491,084 (GRCm39) |
R170K |
probably damaging |
Het |
| Plec |
A |
G |
15: 76,069,937 (GRCm39) |
C960R |
unknown |
Het |
| Pramel11 |
T |
A |
4: 143,623,646 (GRCm39) |
N176I |
probably benign |
Het |
| R3hdm2 |
T |
G |
10: 127,293,521 (GRCm39) |
S142A |
probably damaging |
Het |
| Rfx7 |
T |
C |
9: 72,524,163 (GRCm39) |
L451P |
probably damaging |
Het |
| Rimbp2 |
T |
A |
5: 128,883,552 (GRCm39) |
E76V |
probably damaging |
Het |
| Rock2 |
A |
G |
12: 17,015,557 (GRCm39) |
N818S |
probably benign |
Het |
| Ryk |
A |
T |
9: 102,758,854 (GRCm39) |
I248F |
possibly damaging |
Het |
| Setd2 |
A |
G |
9: 110,378,168 (GRCm39) |
Q661R |
possibly damaging |
Het |
| Siae |
T |
C |
9: 37,539,105 (GRCm39) |
V172A |
probably benign |
Het |
| Slc35f4 |
A |
G |
14: 49,556,377 (GRCm39) |
S9P |
unknown |
Het |
| Smg1 |
T |
C |
7: 117,795,179 (GRCm39) |
E456G |
unknown |
Het |
| Srgap3 |
C |
T |
6: 112,743,865 (GRCm39) |
A458T |
probably damaging |
Het |
| Tgfbrap1 |
T |
A |
1: 43,093,799 (GRCm39) |
R564S |
probably damaging |
Het |
| Usp15 |
A |
G |
10: 123,004,143 (GRCm39) |
Y204H |
probably damaging |
Het |
| Usp35 |
A |
G |
7: 96,962,276 (GRCm39) |
Y527H |
probably damaging |
Het |
| Usp8 |
T |
A |
2: 126,600,524 (GRCm39) |
*1092K |
probably null |
Het |
| Vmn2r73 |
A |
T |
7: 85,518,987 (GRCm39) |
M545K |
probably benign |
Het |
| Ylpm1 |
A |
T |
12: 85,080,689 (GRCm39) |
|
probably null |
Het |
| Zscan22 |
G |
T |
7: 12,641,130 (GRCm39) |
R458L |
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 |
|
|
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 |
|
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'- AGAACTTTACCTGGGAAGGATTC -3'
(R):5'- TCCTCTTCTATGTGACACGAGG -3'
Sequencing Primer
(F):5'- GAAGGATTCCATGTCTTTCTGAC -3'
(R):5'- CTTCTATGTGACACGAGGAGCCAG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation