Incidental Mutation 'R0737:Clip4'
| ID |
70544 |
| 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 |
038918-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.142)
|
| Stock # |
R0737 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
72076674-72171205 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 72144694 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 95
(Q95*)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024854]
[ENSMUST00000229304]
[ENSMUST00000229874]
[ENSMUST00000229952]
[ENSMUST00000230333]
[ENSMUST00000230305]
[ENSMUST00000230749]
[ENSMUST00000231105]
[ENSMUST00000230747]
|
| AlphaFold |
Q8CI96 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024854
AA Change: S554L
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000024854
Gene: ENSMUSG00000024059
AA Change: S554L
| 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: S554L
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229903
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229952
AA Change: S507L
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230160
AA Change: S246L
PolyPhen 2
Score 0.376 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230333
AA Change: S554L
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230305
AA Change: S554L
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230749
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230845
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231105
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000231131
AA Change: Q95*
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230747
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 94.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930567H17Rik |
T |
A |
X: 69,437,813 (GRCm39) |
|
probably benign |
Het |
| Aff4 |
T |
A |
11: 53,301,780 (GRCm39) |
L1043* |
probably null |
Het |
| Ankrd11 |
G |
T |
8: 123,622,575 (GRCm39) |
R426S |
probably damaging |
Het |
| Atm |
T |
A |
9: 53,367,866 (GRCm39) |
N2422I |
probably damaging |
Het |
| Bahcc1 |
C |
A |
11: 120,163,667 (GRCm39) |
P655Q |
probably damaging |
Het |
| Baz2a |
A |
G |
10: 127,951,949 (GRCm39) |
I556V |
possibly damaging |
Het |
| Ccdc33 |
T |
C |
9: 57,989,331 (GRCm39) |
D114G |
probably damaging |
Het |
| Cdk5rap2 |
T |
C |
4: 70,255,612 (GRCm39) |
H424R |
probably benign |
Het |
| Cfap57 |
T |
C |
4: 118,438,299 (GRCm39) |
E864G |
possibly damaging |
Het |
| Cit |
T |
A |
5: 116,084,978 (GRCm39) |
S836R |
probably damaging |
Het |
| Col17a1 |
C |
T |
19: 47,657,872 (GRCm39) |
G433S |
possibly damaging |
Het |
| Col6a3 |
A |
G |
1: 90,756,020 (GRCm39) |
F90L |
probably damaging |
Het |
| Cybc1 |
C |
T |
11: 121,118,068 (GRCm39) |
|
probably null |
Het |
| Degs1l |
G |
A |
1: 180,882,944 (GRCm39) |
M235I |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,998,724 (GRCm39) |
H1108R |
probably damaging |
Het |
| Elac1 |
A |
T |
18: 73,872,110 (GRCm39) |
M295K |
probably damaging |
Het |
| Epas1 |
G |
T |
17: 87,136,884 (GRCm39) |
G816C |
possibly damaging |
Het |
| Ermap |
C |
A |
4: 119,035,707 (GRCm39) |
C427F |
probably damaging |
Het |
| Fbxo44 |
T |
C |
4: 148,243,266 (GRCm39) |
|
probably benign |
Het |
| Fmo4 |
T |
A |
1: 162,635,961 (GRCm39) |
K14* |
probably null |
Het |
| Gadl1 |
G |
A |
9: 115,903,055 (GRCm39) |
M461I |
probably damaging |
Het |
| Garnl3 |
T |
A |
2: 32,880,654 (GRCm39) |
I868F |
probably damaging |
Het |
| Gm7168 |
A |
G |
17: 14,169,245 (GRCm39) |
D204G |
probably damaging |
Het |
| Hs6st3 |
T |
C |
14: 120,106,795 (GRCm39) |
F401S |
possibly damaging |
Het |
| Kcnmb1 |
A |
T |
11: 33,914,701 (GRCm39) |
M1L |
probably benign |
Het |
| Krt35 |
T |
C |
11: 99,984,620 (GRCm39) |
T292A |
probably benign |
Het |
| Krt81 |
C |
A |
15: 101,361,508 (GRCm39) |
R24L |
possibly damaging |
Het |
| Lamb2 |
T |
A |
9: 108,360,993 (GRCm39) |
W572R |
probably benign |
Het |
| Letmd1 |
A |
G |
15: 100,367,702 (GRCm39) |
T87A |
probably damaging |
Het |
| Lrp2 |
A |
G |
2: 69,278,513 (GRCm39) |
Y3947H |
probably damaging |
Het |
| Mocos |
T |
C |
18: 24,822,044 (GRCm39) |
F685L |
probably damaging |
Het |
| Nsun6 |
A |
T |
2: 15,001,285 (GRCm39) |
F424I |
probably damaging |
Het |
| Nup88 |
A |
G |
11: 70,860,776 (GRCm39) |
M1T |
probably null |
Het |
| Or13p5 |
C |
T |
4: 118,592,421 (GRCm39) |
R232C |
probably benign |
Het |
| Or14c45 |
C |
T |
7: 86,176,195 (GRCm39) |
P77S |
probably damaging |
Het |
| Or4c29 |
T |
C |
2: 88,740,617 (GRCm39) |
N40S |
probably damaging |
Het |
| Pcdhb12 |
T |
A |
18: 37,570,762 (GRCm39) |
V636D |
probably damaging |
Het |
| Pclo |
C |
A |
5: 14,565,453 (GRCm39) |
A73E |
probably damaging |
Het |
| Pdlim7 |
A |
T |
13: 55,652,693 (GRCm39) |
|
probably null |
Het |
| Phldb1 |
G |
A |
9: 44,610,933 (GRCm39) |
P67S |
possibly damaging |
Het |
| Ppp2r2b |
T |
C |
18: 43,192,257 (GRCm39) |
T17A |
probably benign |
Het |
| Ppp4r3c2 |
A |
G |
X: 88,797,926 (GRCm39) |
H586R |
probably benign |
Het |
| Rab11fip4 |
T |
C |
11: 79,574,328 (GRCm39) |
V241A |
probably benign |
Het |
| Slc41a1 |
T |
C |
1: 131,768,690 (GRCm39) |
L216P |
probably damaging |
Het |
| Slco1a8 |
G |
T |
6: 141,949,154 (GRCm39) |
A74E |
possibly damaging |
Het |
| Smg6 |
T |
A |
11: 75,050,662 (GRCm39) |
D1352E |
probably damaging |
Het |
| Tbc1d9 |
A |
T |
8: 83,985,942 (GRCm39) |
I816F |
probably damaging |
Het |
| Tex264 |
T |
C |
9: 106,536,498 (GRCm39) |
T220A |
probably benign |
Het |
| Tmco6 |
G |
A |
18: 36,874,829 (GRCm39) |
V439I |
probably damaging |
Het |
| Tmem64 |
A |
G |
4: 15,266,717 (GRCm39) |
I256V |
probably damaging |
Het |
| Tnks1bp1 |
A |
G |
2: 84,882,880 (GRCm39) |
S236G |
possibly damaging |
Het |
| Tsc1 |
A |
G |
2: 28,560,942 (GRCm39) |
T267A |
possibly damaging |
Het |
| Txndc2 |
A |
G |
17: 65,946,548 (GRCm39) |
|
probably null |
Het |
| Vmn2r94 |
G |
A |
17: 18,497,695 (GRCm39) |
Q26* |
probably null |
Het |
| Zan |
T |
C |
5: 137,387,511 (GRCm39) |
D4900G |
unknown |
Het |
| Zkscan3 |
T |
C |
13: 21,572,766 (GRCm39) |
T122A |
probably benign |
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 |
|
|
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 |
|
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'- GGACTCCACTCCATCTGCATATTCG -3'
(R):5'- GGGCGTACTTGCACTATACAGACAC -3'
Sequencing Primer
(F):5'- CGTCTGTCTCCTATGCTAGAGTAAAG -3'
(R):5'- GACACACTTCAGACGCTTTG -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation