Incidental Mutation 'R5974:Clip4'
| ID |
471654 |
| 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 |
044157-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.174)
|
| Stock # |
R5974 (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 T
at 72138242 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 433
(H433L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155140
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024854]
[ENSMUST00000229304]
[ENSMUST00000229874]
[ENSMUST00000229952]
[ENSMUST00000230305]
[ENSMUST00000230333]
[ENSMUST00000230749]
[ENSMUST00000230747]
[ENSMUST00000231105]
|
| AlphaFold |
Q8CI96 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024854
AA Change: H480L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000024854
Gene: ENSMUSG00000024059
AA Change: H480L
| 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 benign
Transcript: ENSMUST00000229874
AA Change: H480L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229903
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000229952
AA Change: H433L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230160
AA Change: H172L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230305
AA Change: H480L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230333
AA Change: H480L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000231131
AA Change: H62L
PolyPhen 2
Score 0.596 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230749
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230747
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231105
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230845
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Anapc4 |
T |
C |
5: 53,002,742 (GRCm39) |
L261P |
probably damaging |
Het |
| Aqp6 |
A |
G |
15: 99,499,317 (GRCm39) |
Y10C |
probably benign |
Het |
| Ccnb1ip1 |
A |
T |
14: 51,029,662 (GRCm39) |
N133K |
probably benign |
Het |
| Cntnap5c |
T |
A |
17: 58,183,480 (GRCm39) |
M62K |
probably benign |
Het |
| Col12a1 |
A |
G |
9: 79,589,409 (GRCm39) |
S1049P |
probably damaging |
Het |
| Col15a1 |
C |
T |
4: 47,258,683 (GRCm39) |
T358I |
probably benign |
Het |
| Coro7 |
A |
T |
16: 4,449,753 (GRCm39) |
D645E |
possibly damaging |
Het |
| Ctnnal1 |
C |
A |
4: 56,817,067 (GRCm39) |
W585L |
probably damaging |
Het |
| Ctnnd1 |
C |
A |
2: 84,451,259 (GRCm39) |
E114* |
probably null |
Het |
| Daam2 |
T |
A |
17: 49,771,501 (GRCm39) |
S882C |
probably damaging |
Het |
| Des |
T |
A |
1: 75,339,628 (GRCm39) |
S329T |
probably benign |
Het |
| Dido1 |
T |
C |
2: 180,313,290 (GRCm39) |
D994G |
probably benign |
Het |
| Dock3 |
A |
G |
9: 106,871,261 (GRCm39) |
V547A |
probably damaging |
Het |
| Ebf4 |
G |
A |
2: 130,207,484 (GRCm39) |
A643T |
probably damaging |
Het |
| Ect2 |
C |
A |
3: 27,199,112 (GRCm39) |
E194* |
probably null |
Het |
| Epb41l2 |
A |
G |
10: 25,317,713 (GRCm39) |
I77V |
possibly damaging |
Het |
| Fat3 |
A |
T |
9: 15,917,824 (GRCm39) |
|
probably null |
Het |
| Fbn2 |
T |
G |
18: 58,181,992 (GRCm39) |
D1803A |
probably damaging |
Het |
| Fbxo10 |
T |
C |
4: 45,040,631 (GRCm39) |
E858G |
probably benign |
Het |
| Fbxo24 |
C |
T |
5: 137,617,912 (GRCm39) |
R284Q |
probably benign |
Het |
| Fsip2 |
T |
A |
2: 82,793,657 (GRCm39) |
I425N |
possibly damaging |
Het |
| Fut9 |
A |
C |
4: 25,620,090 (GRCm39) |
Y241* |
probably null |
Het |
| Galr2 |
A |
G |
11: 116,173,852 (GRCm39) |
S161G |
possibly damaging |
Het |
| Gcc2 |
T |
A |
10: 58,094,065 (GRCm39) |
L14I |
probably damaging |
Het |
| H2-T15 |
A |
T |
17: 36,367,677 (GRCm39) |
D220E |
probably benign |
Het |
| Hdac11 |
G |
A |
6: 91,150,196 (GRCm39) |
V332I |
probably benign |
Het |
| Hdac7 |
T |
C |
15: 97,699,953 (GRCm39) |
|
probably null |
Het |
| Kif16b |
C |
T |
2: 142,699,301 (GRCm39) |
G93D |
probably damaging |
Het |
| Krtap11-1 |
C |
A |
16: 89,367,656 (GRCm39) |
C121F |
possibly damaging |
Het |
| Lacc1 |
T |
C |
14: 77,272,517 (GRCm39) |
Q93R |
probably damaging |
Het |
| Lama1 |
T |
C |
17: 68,080,722 (GRCm39) |
F1250S |
probably benign |
Het |
| Lmbrd2 |
A |
G |
15: 9,172,202 (GRCm39) |
E332G |
probably benign |
Het |
| Lrp2 |
C |
A |
2: 69,289,892 (GRCm39) |
C3649F |
probably damaging |
Het |
| Map1a |
T |
C |
2: 121,134,857 (GRCm39) |
V1653A |
probably benign |
Het |
| Mrpl1 |
T |
C |
5: 96,379,653 (GRCm39) |
|
probably null |
Het |
| Myo1b |
A |
G |
1: 51,817,532 (GRCm39) |
S577P |
probably damaging |
Het |
| Nedd4 |
T |
A |
9: 72,650,920 (GRCm39) |
|
probably null |
Het |
| Negr1 |
T |
A |
3: 156,774,923 (GRCm39) |
V213E |
probably damaging |
Het |
| Nlk |
T |
G |
11: 78,481,792 (GRCm39) |
Q223P |
probably benign |
Het |
| Ntn5 |
A |
G |
7: 45,340,848 (GRCm39) |
H162R |
probably damaging |
Het |
| Nup42 |
T |
C |
5: 24,372,400 (GRCm39) |
S63P |
probably damaging |
Het |
| Obscn |
C |
A |
11: 58,967,373 (GRCm39) |
D477Y |
probably damaging |
Het |
| Or12d12 |
A |
T |
17: 37,611,229 (GRCm39) |
I28N |
possibly damaging |
Het |
| Or5an1 |
T |
C |
19: 12,261,200 (GRCm39) |
S263P |
probably damaging |
Het |
| Or8u10 |
T |
C |
2: 85,915,225 (GRCm39) |
S299G |
probably benign |
Het |
| Pabpn1 |
A |
G |
14: 55,134,617 (GRCm39) |
T280A |
probably damaging |
Het |
| Per3 |
A |
T |
4: 151,127,194 (GRCm39) |
V109E |
possibly damaging |
Het |
| Pira2 |
A |
C |
7: 3,844,576 (GRCm39) |
V485G |
probably benign |
Het |
| Pknox2 |
A |
G |
9: 36,847,618 (GRCm39) |
L133P |
probably damaging |
Het |
| Pros1 |
A |
C |
16: 62,721,030 (GRCm39) |
N195T |
probably damaging |
Het |
| Rffl |
T |
C |
11: 82,696,977 (GRCm39) |
K289E |
probably damaging |
Het |
| Ripk1 |
T |
A |
13: 34,214,084 (GRCm39) |
Y475* |
probably null |
Het |
| Ryr2 |
A |
G |
13: 11,729,397 (GRCm39) |
|
probably null |
Het |
| Sgk1 |
T |
A |
10: 21,872,148 (GRCm39) |
N241K |
probably damaging |
Het |
| Skint1 |
T |
A |
4: 111,876,516 (GRCm39) |
S146T |
probably benign |
Het |
| Sox30 |
G |
T |
11: 45,871,900 (GRCm39) |
D252Y |
probably damaging |
Het |
| Syngap1 |
A |
G |
17: 27,182,012 (GRCm39) |
Y1002C |
probably damaging |
Het |
| Tiam2 |
A |
G |
17: 3,465,084 (GRCm39) |
D271G |
possibly damaging |
Het |
| Ticam1 |
T |
C |
17: 56,578,178 (GRCm39) |
T306A |
probably benign |
Het |
| Tmem252 |
A |
G |
19: 24,651,632 (GRCm39) |
E67G |
probably benign |
Het |
| Tnxb |
T |
G |
17: 34,904,681 (GRCm39) |
F1149V |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,148,389 (GRCm39) |
|
probably null |
Het |
| Unc50 |
A |
G |
1: 37,476,290 (GRCm39) |
D150G |
probably benign |
Het |
| Ywhag |
A |
C |
5: 135,940,483 (GRCm39) |
L37R |
probably damaging |
Het |
| Zfp296 |
T |
C |
7: 19,311,862 (GRCm39) |
L123P |
probably benign |
Het |
| Zfp418 |
G |
T |
7: 7,185,199 (GRCm39) |
Q387H |
possibly damaging |
Het |
| Zfp882 |
T |
C |
8: 72,666,999 (GRCm39) |
F53L |
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 |
|
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'- TGAATACCTTGGCCTGAGTGAG -3'
(R):5'- AAGTCCCATCTGCTGTTTAGG -3'
Sequencing Primer
(F):5'- CCTGAGTGAGGACCACAGC -3'
(R):5'- GAGTTACCTGGAGCAAAG -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation