Incidental Mutation 'R0790:Cpsf4l'
| ID |
76443 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpsf4l
|
| Ensembl Gene |
ENSMUSG00000018727 |
| Gene Name |
cleavage and polyadenylation specific factor 4-like |
| Synonyms |
1500000C01Rik, D11Ertd636e, 0610010C04Rik |
| MMRRC Submission |
038970-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R0790 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
113588998-113600843 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 113597234 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133451
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018871]
[ENSMUST00000100248]
[ENSMUST00000106617]
[ENSMUST00000173655]
|
| AlphaFold |
E9Q2N0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018871
|
| SMART Domains |
Protein: ENSMUSP00000018871
Gene: ENSMUSG00000018727
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C3H1
|
10 |
36 |
1.1e-2 |
SMART |
|
ZnF_C3H1
|
38 |
64 |
4.64e-1 |
SMART |
|
ZnF_C3H1
|
68 |
93 |
2.34e0 |
SMART |
|
ZnF_C3H1
|
94 |
117 |
2.4e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100248
|
| SMART Domains |
Protein: ENSMUSP00000097819
Gene: ENSMUSG00000018727
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
62 |
74 |
N/A |
INTRINSIC |
|
ZnF_C3H1
|
89 |
114 |
3.38e-1 |
SMART |
|
ZnF_C3H1
|
115 |
141 |
1.1e-2 |
SMART |
|
ZnF_C3H1
|
143 |
169 |
4.64e-1 |
SMART |
|
ZnF_C3H1
|
173 |
197 |
1.36e-2 |
SMART |
|
ZnF_C3H1
|
198 |
221 |
5.21e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106617
|
| SMART Domains |
Protein: ENSMUSP00000102228
Gene: ENSMUSG00000018727
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C3H1
|
10 |
36 |
1.1e-2 |
SMART |
|
ZnF_C3H1
|
38 |
64 |
4.64e-1 |
SMART |
|
ZnF_C3H1
|
68 |
93 |
2.34e0 |
SMART |
|
ZnF_C3H1
|
94 |
117 |
5.21e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151396
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173655
|
| SMART Domains |
Protein: ENSMUSP00000133451
Gene: ENSMUSG00000018727
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C3H1
|
35 |
61 |
1.33e-1 |
SMART |
|
ZnF_C3H1
|
62 |
88 |
1.1e-2 |
SMART |
|
ZnF_C3H1
|
90 |
116 |
4.64e-1 |
SMART |
|
ZnF_C3H1
|
120 |
145 |
2.34e0 |
SMART |
|
ZnF_C3H1
|
146 |
169 |
5.21e-1 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.8%
- 20x: 92.0%
|
| Validation Efficiency |
100% (41/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apob |
A |
G |
12: 8,060,245 (GRCm39) |
E2876G |
probably damaging |
Het |
| Arhgef28 |
A |
G |
13: 98,117,914 (GRCm39) |
S585P |
possibly damaging |
Het |
| Atp11b |
T |
A |
3: 35,887,072 (GRCm39) |
N685K |
probably damaging |
Het |
| Camsap2 |
C |
T |
1: 136,201,475 (GRCm39) |
|
probably benign |
Het |
| Ccdc150 |
T |
A |
1: 54,316,935 (GRCm39) |
|
probably benign |
Het |
| Cdc23 |
A |
G |
18: 34,784,666 (GRCm39) |
I32T |
possibly damaging |
Het |
| Cdca2 |
C |
T |
14: 67,917,740 (GRCm39) |
D553N |
probably benign |
Het |
| Chd8 |
T |
C |
14: 52,441,482 (GRCm39) |
D870G |
probably benign |
Het |
| Chit1 |
T |
G |
1: 134,066,490 (GRCm39) |
V2G |
probably benign |
Het |
| Col4a4 |
G |
A |
1: 82,502,717 (GRCm39) |
P356S |
unknown |
Het |
| Etaa1 |
G |
T |
11: 17,896,051 (GRCm39) |
Q689K |
probably benign |
Het |
| Fam83h |
C |
T |
15: 75,875,241 (GRCm39) |
V699I |
probably benign |
Het |
| Fry |
A |
G |
5: 150,389,902 (GRCm39) |
D2545G |
probably benign |
Het |
| Hsp90ab1 |
ACTTCTT |
ACTT |
17: 45,880,425 (GRCm39) |
|
probably benign |
Het |
| Kif5a |
T |
C |
10: 127,081,878 (GRCm39) |
|
probably benign |
Het |
| Lifr |
A |
G |
15: 7,215,196 (GRCm39) |
T768A |
probably benign |
Het |
| Mrap2 |
T |
C |
9: 87,064,835 (GRCm39) |
L192P |
possibly damaging |
Het |
| Myo18a |
G |
A |
11: 77,731,535 (GRCm39) |
R840Q |
possibly damaging |
Het |
| Myrfl |
T |
C |
10: 116,653,693 (GRCm39) |
D458G |
probably damaging |
Het |
| Or12j4 |
T |
C |
7: 140,046,962 (GRCm39) |
S283P |
possibly damaging |
Het |
| Or51s1 |
A |
G |
7: 102,558,843 (GRCm39) |
Y68H |
probably benign |
Het |
| Pcdh15 |
A |
G |
10: 74,466,885 (GRCm39) |
E1034G |
probably benign |
Het |
| Pirb |
A |
T |
7: 3,720,637 (GRCm39) |
L287Q |
probably benign |
Het |
| Plcb2 |
G |
A |
2: 118,542,964 (GRCm39) |
|
probably benign |
Het |
| Psmd1 |
T |
C |
1: 86,005,172 (GRCm39) |
V202A |
possibly damaging |
Het |
| Raet1d |
T |
C |
10: 22,246,795 (GRCm39) |
I41T |
probably damaging |
Het |
| Retnlb |
T |
A |
16: 48,637,589 (GRCm39) |
L5Q |
possibly damaging |
Het |
| Sh3rf1 |
T |
C |
8: 61,782,292 (GRCm39) |
Y145H |
probably damaging |
Het |
| Smad7 |
C |
T |
18: 75,526,933 (GRCm39) |
H260Y |
probably benign |
Het |
| Stk10 |
T |
C |
11: 32,548,653 (GRCm39) |
V407A |
probably benign |
Het |
| Synpo |
A |
G |
18: 60,736,575 (GRCm39) |
V218A |
probably damaging |
Het |
| Tll2 |
T |
A |
19: 41,092,289 (GRCm39) |
Y499F |
probably damaging |
Het |
| Vrk1 |
C |
T |
12: 106,036,883 (GRCm39) |
P390S |
probably benign |
Het |
| Zfp748 |
A |
C |
13: 67,693,481 (GRCm39) |
L64W |
probably benign |
Het |
|
| Other mutations in Cpsf4l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00430:Cpsf4l
|
APN |
11 |
113,600,044 (GRCm39) |
intron |
probably benign |
|
|
IGL02132:Cpsf4l
|
APN |
11 |
113,590,685 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL02427:Cpsf4l
|
APN |
11 |
113,600,324 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R1700:Cpsf4l
|
UTSW |
11 |
113,592,901 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1909:Cpsf4l
|
UTSW |
11 |
113,594,204 (GRCm39) |
splice site |
probably null |
|
|
R3522:Cpsf4l
|
UTSW |
11 |
113,593,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4830:Cpsf4l
|
UTSW |
11 |
113,600,328 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R6006:Cpsf4l
|
UTSW |
11 |
113,590,753 (GRCm39) |
missense |
probably benign |
0.23 |
|
R6229:Cpsf4l
|
UTSW |
11 |
113,599,680 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6593:Cpsf4l
|
UTSW |
11 |
113,600,192 (GRCm39) |
intron |
probably benign |
|
|
R7107:Cpsf4l
|
UTSW |
11 |
113,593,315 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R7373:Cpsf4l
|
UTSW |
11 |
113,590,657 (GRCm39) |
splice site |
probably null |
|
|
R8517:Cpsf4l
|
UTSW |
11 |
113,599,651 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8733:Cpsf4l
|
UTSW |
11 |
113,600,279 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGAGACTAACAGGCCGCAGG -3'
(R):5'- CGCAGGGATGCTATGCCCAC -3'
Sequencing Primer
(F):5'- gcagcctaaccttgaactcc -3'
(R):5'- TATGCCCACTCCGGCAC -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation