Incidental Mutation 'R4589:Clip4'
| ID |
342710 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.174)
|
| Stock # |
R4589 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
72076674-72171205 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 72117862 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 302
(C302*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155844
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024854]
[ENSMUST00000229304]
[ENSMUST00000229874]
[ENSMUST00000229952]
[ENSMUST00000230305]
[ENSMUST00000230333]
[ENSMUST00000230747]
[ENSMUST00000230749]
[ENSMUST00000231105]
|
| AlphaFold |
Q8CI96 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000024854
AA Change: C302*
|
| SMART Domains |
Protein: ENSMUSP00000024854
Gene: ENSMUSG00000024059
AA Change: C302*
| 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 null
Transcript: ENSMUST00000229304
AA Change: C302*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000229874
AA Change: C302*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000229952
AA Change: C302*
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230160
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000230305
AA Change: C302*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000230333
AA Change: C302*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000230747
AA Change: C302*
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230700
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000230749
AA Change: C302*
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231105
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
G |
T |
16: 14,211,895 (GRCm39) |
V157L |
probably benign |
Het |
| Actn1 |
G |
A |
12: 80,218,573 (GRCm39) |
T737I |
possibly damaging |
Het |
| Ada |
T |
C |
2: 163,574,868 (GRCm39) |
K90E |
possibly damaging |
Het |
| Ap2b1 |
T |
A |
11: 83,223,837 (GRCm39) |
L184* |
probably null |
Het |
| Arfgef3 |
T |
C |
10: 18,521,947 (GRCm39) |
D693G |
probably damaging |
Het |
| Arid4a |
A |
T |
12: 71,116,738 (GRCm39) |
I277F |
probably damaging |
Het |
| Armh4 |
A |
G |
14: 50,011,039 (GRCm39) |
S223P |
probably damaging |
Het |
| Ccdc171 |
A |
G |
4: 83,467,855 (GRCm39) |
S67G |
probably benign |
Het |
| Ccr5 |
T |
A |
9: 123,924,539 (GRCm39) |
F47L |
probably benign |
Het |
| Cyth1 |
C |
T |
11: 118,075,811 (GRCm39) |
V142I |
possibly damaging |
Het |
| Ddx59 |
T |
A |
1: 136,367,480 (GRCm39) |
|
probably null |
Het |
| Def6 |
G |
T |
17: 28,447,121 (GRCm39) |
R584L |
probably benign |
Het |
| Dnah7c |
C |
A |
1: 46,553,743 (GRCm39) |
Y340* |
probably null |
Het |
| Eif2ak4 |
T |
G |
2: 118,247,819 (GRCm39) |
C173W |
probably damaging |
Het |
| Gm14403 |
C |
T |
2: 177,200,428 (GRCm39) |
H125Y |
probably benign |
Het |
| Grk3 |
T |
C |
5: 113,089,584 (GRCm39) |
I323V |
possibly damaging |
Het |
| Homez |
G |
T |
14: 55,094,487 (GRCm39) |
T407K |
probably damaging |
Het |
| Igdcc4 |
A |
G |
9: 65,037,910 (GRCm39) |
T763A |
probably damaging |
Het |
| Ighg2b |
A |
T |
12: 113,270,104 (GRCm39) |
W305R |
unknown |
Het |
| Il27ra |
G |
T |
8: 84,763,038 (GRCm39) |
N296K |
probably damaging |
Het |
| Lzic |
G |
T |
4: 149,572,561 (GRCm39) |
L50F |
probably damaging |
Het |
| Mbtd1 |
T |
C |
11: 93,812,245 (GRCm39) |
V183A |
probably damaging |
Het |
| Mme |
T |
A |
3: 63,287,693 (GRCm39) |
D731E |
probably benign |
Het |
| Mocos |
T |
C |
18: 24,787,095 (GRCm39) |
L38P |
probably damaging |
Het |
| Mrps18a |
T |
C |
17: 46,428,899 (GRCm39) |
|
probably null |
Het |
| Msh2 |
T |
A |
17: 87,987,460 (GRCm39) |
V200D |
possibly damaging |
Het |
| Mug1 |
A |
T |
6: 121,834,310 (GRCm39) |
I364F |
probably benign |
Het |
| Mycbp2 |
G |
T |
14: 103,414,749 (GRCm39) |
S2554R |
probably benign |
Het |
| Nat10 |
A |
G |
2: 103,584,415 (GRCm39) |
C121R |
probably damaging |
Het |
| Nfatc3 |
T |
A |
8: 106,805,705 (GRCm39) |
D183E |
probably damaging |
Het |
| Odr4 |
C |
T |
1: 150,260,238 (GRCm39) |
V127I |
probably benign |
Het |
| Or4d10c |
T |
C |
19: 12,065,305 (GRCm39) |
I284V |
possibly damaging |
Het |
| Or51ac3 |
A |
T |
7: 103,213,639 (GRCm39) |
F282L |
probably damaging |
Het |
| Or52h1 |
C |
A |
7: 103,828,636 (GRCm39) |
|
probably null |
Het |
| Or5d14 |
T |
C |
2: 87,880,823 (GRCm39) |
I48M |
probably benign |
Het |
| Pak6 |
T |
A |
2: 118,527,021 (GRCm39) |
I672K |
probably damaging |
Het |
| Pan3 |
A |
T |
5: 147,479,983 (GRCm39) |
I830F |
probably damaging |
Het |
| Pcdh9 |
A |
T |
14: 94,125,628 (GRCm39) |
L181I |
probably damaging |
Het |
| Pigg |
G |
A |
5: 108,480,556 (GRCm39) |
A447T |
probably benign |
Het |
| Pitpnb |
T |
A |
5: 111,519,214 (GRCm39) |
S165T |
probably damaging |
Het |
| Pla2g2a |
A |
G |
4: 138,560,590 (GRCm39) |
Y67C |
probably damaging |
Het |
| Plch1 |
A |
G |
3: 63,688,928 (GRCm39) |
I80T |
probably damaging |
Het |
| Pnma1 |
A |
G |
12: 84,194,235 (GRCm39) |
I156T |
probably benign |
Het |
| Prss21 |
G |
T |
17: 24,091,796 (GRCm39) |
D255Y |
possibly damaging |
Het |
| Prune1 |
T |
A |
3: 95,169,642 (GRCm39) |
I187F |
possibly damaging |
Het |
| Rab7b |
T |
C |
1: 131,633,385 (GRCm39) |
F78L |
probably benign |
Het |
| Riok3 |
T |
A |
18: 12,269,844 (GRCm39) |
Y92N |
probably benign |
Het |
| Rpap2 |
T |
C |
5: 107,768,361 (GRCm39) |
S400P |
probably benign |
Het |
| Ryr3 |
C |
A |
2: 112,705,478 (GRCm39) |
G792V |
probably damaging |
Het |
| Septin3 |
A |
G |
15: 82,170,092 (GRCm39) |
E206G |
probably damaging |
Het |
| Stkld1 |
T |
C |
2: 26,840,679 (GRCm39) |
S454P |
probably damaging |
Het |
| Tdh |
A |
T |
14: 63,733,326 (GRCm39) |
L140Q |
probably damaging |
Het |
| Tex15 |
T |
A |
8: 34,047,401 (GRCm39) |
H159Q |
probably damaging |
Het |
| Tmed6 |
C |
T |
8: 107,790,793 (GRCm39) |
V85I |
probably benign |
Het |
| Vmn1r174 |
T |
A |
7: 23,454,204 (GRCm39) |
L290* |
probably null |
Het |
| Vmn1r31 |
A |
G |
6: 58,449,596 (GRCm39) |
S90P |
probably damaging |
Het |
| Vmn2r55 |
T |
C |
7: 12,404,822 (GRCm39) |
T194A |
probably damaging |
Het |
| Vmn2r82 |
A |
T |
10: 79,192,548 (GRCm39) |
I42F |
probably damaging |
Het |
| Vps35 |
G |
A |
8: 86,014,331 (GRCm39) |
P106L |
probably damaging |
Het |
| Xrcc6 |
T |
A |
15: 81,906,661 (GRCm39) |
Y69N |
probably damaging |
Het |
| Zbtb14 |
C |
T |
17: 69,695,465 (GRCm39) |
P388S |
probably damaging |
Het |
| Zfp541 |
C |
T |
7: 15,817,261 (GRCm39) |
A902V |
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 |
|
|
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'- TCAATCGGCTGGCAACTGAG -3'
(R):5'- AGGGAAAGGCTTAGTTTAAAACTGC -3'
Sequencing Primer
(F):5'- GAAGGATTCCATGTCTTTCTGAC -3'
(R):5'- CTGCAAGGAAGGGTTCAGCC -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation