Incidental Mutation 'R4013:Clip4'
| ID |
311840 |
| 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 |
040950-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.142)
|
| Stock # |
R4013 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
72076674-72171205 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 72163541 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 704
(C704*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024854
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024854]
[ENSMUST00000229874]
[ENSMUST00000230290]
[ENSMUST00000230747]
[ENSMUST00000231105]
[ENSMUST00000230749]
|
| 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 null
Transcript: ENSMUST00000024854
AA Change: C704*
|
| SMART Domains |
Protein: ENSMUSP00000024854
Gene: ENSMUSG00000024059
AA Change: C704*
| 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: ENSMUST00000231105
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230749
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230845
|
| Meta Mutation Damage Score |
0.9705 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 92.4%
|
| Validation Efficiency |
98% (47/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
T |
C |
7: 45,668,104 (GRCm39) |
Q168R |
probably benign |
Het |
| Adgrg3 |
A |
G |
8: 95,761,727 (GRCm39) |
|
probably benign |
Het |
| Apold1 |
A |
G |
6: 134,960,869 (GRCm39) |
I108V |
probably benign |
Het |
| Atp6v0a2 |
G |
A |
5: 124,789,860 (GRCm39) |
V429M |
probably damaging |
Het |
| Cbln4 |
A |
T |
2: 171,879,477 (GRCm39) |
M137K |
probably damaging |
Het |
| Cfap57 |
A |
G |
4: 118,450,340 (GRCm39) |
V594A |
probably benign |
Het |
| Chd9 |
A |
G |
8: 91,699,797 (GRCm39) |
E28G |
possibly damaging |
Het |
| Col8a2 |
T |
A |
4: 126,204,908 (GRCm39) |
|
probably benign |
Het |
| Cyp3a59 |
A |
G |
5: 146,016,193 (GRCm39) |
T17A |
probably benign |
Het |
| Cyp4f14 |
G |
A |
17: 33,135,853 (GRCm39) |
Q3* |
probably null |
Het |
| Cysltr2 |
A |
G |
14: 73,267,005 (GRCm39) |
I235T |
probably damaging |
Het |
| Esp34 |
C |
A |
17: 38,870,446 (GRCm39) |
C45* |
probably null |
Het |
| Gabrg2 |
T |
C |
11: 41,862,707 (GRCm39) |
K126E |
possibly damaging |
Het |
| Gm4846 |
A |
C |
1: 166,322,249 (GRCm39) |
|
probably null |
Het |
| Igsf21 |
T |
C |
4: 139,764,780 (GRCm39) |
N165S |
possibly damaging |
Het |
| Kcnf1 |
A |
G |
12: 17,225,994 (GRCm39) |
F76L |
probably benign |
Het |
| Kcns1 |
A |
G |
2: 164,010,177 (GRCm39) |
V194A |
probably damaging |
Het |
| Kdm5a |
T |
A |
6: 120,371,067 (GRCm39) |
Y504N |
probably damaging |
Het |
| Kdm5b |
A |
G |
1: 134,555,067 (GRCm39) |
Y1325C |
possibly damaging |
Het |
| Kif1a |
T |
C |
1: 93,004,014 (GRCm39) |
D156G |
probably damaging |
Het |
| Lrp1b |
A |
G |
2: 40,692,996 (GRCm39) |
F3401L |
possibly damaging |
Het |
| Lrrc63 |
A |
G |
14: 75,335,731 (GRCm39) |
Y460H |
probably damaging |
Het |
| Myo15b |
G |
T |
11: 115,762,282 (GRCm39) |
E1201* |
probably null |
Het |
| Ndor1 |
A |
T |
2: 25,140,162 (GRCm39) |
I84K |
probably damaging |
Het |
| Ndst4 |
T |
A |
3: 125,476,819 (GRCm39) |
Y15N |
probably damaging |
Het |
| Or51af1 |
T |
C |
7: 103,141,840 (GRCm39) |
T82A |
probably benign |
Het |
| Or5ar1 |
A |
G |
2: 85,671,725 (GRCm39) |
S137P |
probably damaging |
Het |
| Pik3r6 |
T |
A |
11: 68,424,347 (GRCm39) |
D317E |
possibly damaging |
Het |
| Ppp2r1a |
G |
A |
17: 21,171,609 (GRCm39) |
R28H |
probably damaging |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Ptpn12 |
G |
A |
5: 21,197,741 (GRCm39) |
P700L |
probably benign |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Slc39a13 |
T |
C |
2: 90,895,247 (GRCm39) |
|
probably null |
Het |
| Smarca2 |
G |
A |
19: 26,661,327 (GRCm39) |
|
probably null |
Het |
| Taok1 |
A |
T |
11: 77,450,659 (GRCm39) |
L371H |
possibly damaging |
Het |
| Tas2r116 |
A |
G |
6: 132,833,230 (GRCm39) |
H277R |
probably damaging |
Het |
| Treml4 |
G |
A |
17: 48,571,837 (GRCm39) |
R80Q |
probably benign |
Het |
| Trim9 |
G |
A |
12: 70,393,126 (GRCm39) |
H273Y |
probably damaging |
Het |
| Tyr |
A |
G |
7: 87,087,148 (GRCm39) |
S455P |
probably benign |
Het |
| Vmn1r214 |
G |
A |
13: 23,219,520 (GRCm39) |
C338Y |
probably benign |
Het |
| Vmn2r52 |
G |
A |
7: 9,904,603 (GRCm39) |
T412I |
probably benign |
Het |
| Wdr70 |
A |
T |
15: 8,108,698 (GRCm39) |
C149* |
probably null |
Het |
| Wdr93 |
T |
A |
7: 79,418,159 (GRCm39) |
V294E |
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 |
|
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'- GCTCACAAGCTCTAACGAAATG -3'
(R):5'- GACCCTCAAAGTTCATACCTGTG -3'
Sequencing Primer
(F):5'- CTCTAACGAAATGGCCACGGTTAG -3'
(R):5'- AAAGTTCATACCTGTGTTCCTTTGG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation