Incidental Mutation 'R5730:Clip4'
| ID |
452736 |
| 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 |
043191-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.174)
|
| Stock # |
R5730 (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 G
at 72117954 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 333
(Y333C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155844
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024854]
[ENSMUST00000229304]
[ENSMUST00000229874]
[ENSMUST00000229952]
[ENSMUST00000230305]
[ENSMUST00000230333]
[ENSMUST00000230749]
[ENSMUST00000230747]
[ENSMUST00000231105]
|
| AlphaFold |
Q8CI96 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024854
AA Change: Y333C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000024854
Gene: ENSMUSG00000024059
AA Change: Y333C
| 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: Y333C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000229874
AA Change: Y333C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000229952
AA Change: Y333C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000230160
AA Change: Y25C
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000230305
AA Change: Y333C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000230333
AA Change: Y333C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000230749
AA Change: Y333C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000230747
AA Change: Y333C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230700
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231105
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
T |
C |
19: 8,987,617 (GRCm39) |
V2967A |
possibly damaging |
Het |
| Apaf1 |
A |
T |
10: 90,856,633 (GRCm39) |
I858K |
possibly damaging |
Het |
| Baiap3 |
T |
C |
17: 25,466,498 (GRCm39) |
T466A |
probably benign |
Het |
| Brca2 |
T |
A |
5: 150,492,470 (GRCm39) |
S3162T |
possibly damaging |
Het |
| Brd1 |
T |
G |
15: 88,601,248 (GRCm39) |
N462T |
probably benign |
Het |
| Carm1 |
G |
A |
9: 21,491,636 (GRCm39) |
R235H |
probably benign |
Het |
| Cd80 |
T |
C |
16: 38,303,097 (GRCm39) |
|
probably null |
Het |
| Col7a1 |
T |
C |
9: 108,801,310 (GRCm39) |
|
probably null |
Het |
| Csmd1 |
G |
A |
8: 16,235,206 (GRCm39) |
Q1206* |
probably null |
Het |
| Cyp17a1 |
A |
G |
19: 46,661,095 (GRCm39) |
I63T |
possibly damaging |
Het |
| Diaph1 |
A |
G |
18: 38,036,829 (GRCm39) |
Y119H |
unknown |
Het |
| Dst |
T |
G |
1: 34,156,607 (GRCm39) |
|
probably null |
Het |
| Fgfr1 |
A |
G |
8: 26,063,827 (GRCm39) |
T785A |
probably damaging |
Het |
| Gm1553 |
A |
G |
10: 82,323,945 (GRCm39) |
F94S |
unknown |
Het |
| Gpbar1 |
A |
G |
1: 74,318,195 (GRCm39) |
N146S |
probably damaging |
Het |
| Gpc5 |
A |
G |
14: 116,025,726 (GRCm39) |
T588A |
possibly damaging |
Het |
| Gramd2a |
A |
G |
9: 59,618,489 (GRCm39) |
H9R |
probably damaging |
Het |
| Klk1b11 |
G |
A |
7: 43,424,199 (GRCm39) |
S6N |
probably benign |
Het |
| Lrp1 |
A |
G |
10: 127,419,703 (GRCm39) |
S969P |
probably benign |
Het |
| Lyz2 |
G |
T |
10: 117,114,587 (GRCm39) |
A114E |
probably damaging |
Het |
| Madd |
T |
C |
2: 90,988,454 (GRCm39) |
D1193G |
probably damaging |
Het |
| Mrpl39 |
C |
T |
16: 84,529,322 (GRCm39) |
G107R |
probably damaging |
Het |
| Mthfd2 |
C |
T |
6: 83,294,441 (GRCm39) |
R24H |
probably benign |
Het |
| Or2q1 |
C |
T |
6: 42,795,094 (GRCm39) |
R230* |
probably null |
Het |
| Or4a68 |
T |
C |
2: 89,269,780 (GRCm39) |
N281S |
probably damaging |
Het |
| Ovch2 |
A |
G |
7: 107,392,606 (GRCm39) |
C246R |
probably damaging |
Het |
| Phf14 |
A |
T |
6: 11,953,319 (GRCm39) |
I353F |
possibly damaging |
Het |
| Ppp2r5a |
C |
T |
1: 191,104,732 (GRCm39) |
V105I |
probably benign |
Het |
| Prr14l |
T |
C |
5: 32,950,947 (GRCm39) |
T1949A |
probably damaging |
Het |
| Prss48 |
T |
G |
3: 85,904,563 (GRCm39) |
M212L |
possibly damaging |
Het |
| Pstk |
A |
T |
7: 130,975,503 (GRCm39) |
D152V |
probably damaging |
Het |
| Scn2a |
C |
A |
2: 65,512,882 (GRCm39) |
S214* |
probably null |
Het |
| Scn3a |
T |
G |
2: 65,325,604 (GRCm39) |
N971T |
probably benign |
Het |
| Syne3 |
T |
C |
12: 104,927,713 (GRCm39) |
I250V |
probably benign |
Het |
| Synpo2 |
T |
C |
3: 122,907,768 (GRCm39) |
D516G |
probably benign |
Het |
| Tcea3 |
T |
C |
4: 135,992,204 (GRCm39) |
V209A |
probably benign |
Het |
| Tnr |
A |
G |
1: 159,715,892 (GRCm39) |
S885G |
probably benign |
Het |
| Trak2 |
T |
C |
1: 58,960,966 (GRCm39) |
D188G |
probably damaging |
Het |
| Tubb1 |
A |
G |
2: 174,299,562 (GRCm39) |
I415V |
probably benign |
Het |
| Virma |
T |
A |
4: 11,542,154 (GRCm39) |
M1580K |
probably benign |
Het |
| Vmn1r120 |
A |
T |
7: 20,786,934 (GRCm39) |
I259N |
possibly damaging |
Het |
| Vmn1r64 |
G |
A |
7: 5,887,522 (GRCm39) |
T7I |
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 |
|
|
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 |
|
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'- AAAGAACTTTACCTGGGAAGGATTC -3'
(R):5'- AGCAGCCTCTCTAGCATTCC -3'
Sequencing Primer
(F):5'- GAAGGATTCCATGTCTTTCTGAC -3'
(R):5'- TCTAGCATTCCCATCAGTGTAAAC -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation