Incidental Mutation 'R4460:Celf6'
| ID |
330109 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Celf6
|
| Ensembl Gene |
ENSMUSG00000032297 |
| Gene Name |
CUGBP, Elav-like family member 6 |
| Synonyms |
6330569O16Rik, Brunol6 |
| MMRRC Submission |
041719-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4460 (G1)
|
| Quality Score |
107 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
59485200-59514575 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 59510327 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 103
(R103H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113196
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034840]
[ENSMUST00000118164]
[ENSMUST00000118549]
[ENSMUST00000121266]
[ENSMUST00000129357]
[ENSMUST00000143916]
|
| AlphaFold |
Q7TN33 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034840
AA Change: R218H
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000034840
Gene: ENSMUSG00000032297
AA Change: R218H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
RRM
|
47 |
123 |
2.16e-19 |
SMART |
|
RRM
|
135 |
210 |
1.05e-17 |
SMART |
|
low complexity region
|
252 |
294 |
N/A |
INTRINSIC |
|
low complexity region
|
298 |
312 |
N/A |
INTRINSIC |
|
low complexity region
|
340 |
354 |
N/A |
INTRINSIC |
|
RRM
|
376 |
449 |
7.35e-22 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000118164
AA Change: R103H
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000112403
Gene: ENSMUSG00000032297
AA Change: R103H
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
20 |
95 |
1.05e-17 |
SMART |
|
low complexity region
|
137 |
179 |
N/A |
INTRINSIC |
|
low complexity region
|
183 |
197 |
N/A |
INTRINSIC |
|
low complexity region
|
225 |
238 |
N/A |
INTRINSIC |
|
RRM
|
260 |
333 |
7.35e-22 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118549
AA Change: R218H
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000112755
Gene: ENSMUSG00000032297
AA Change: R218H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
RRM
|
47 |
123 |
2.16e-19 |
SMART |
|
RRM
|
135 |
210 |
1.05e-17 |
SMART |
|
low complexity region
|
252 |
294 |
N/A |
INTRINSIC |
|
low complexity region
|
298 |
312 |
N/A |
INTRINSIC |
|
low complexity region
|
356 |
375 |
N/A |
INTRINSIC |
|
RRM
|
397 |
470 |
7.35e-22 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121266
AA Change: R103H
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000113196
Gene: ENSMUSG00000032297
AA Change: R103H
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
20 |
95 |
1.05e-17 |
SMART |
|
low complexity region
|
137 |
179 |
N/A |
INTRINSIC |
|
low complexity region
|
183 |
197 |
N/A |
INTRINSIC |
|
low complexity region
|
225 |
239 |
N/A |
INTRINSIC |
|
RRM
|
261 |
334 |
7.35e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129357
|
| SMART Domains |
Protein: ENSMUSP00000122167
Gene: ENSMUSG00000032297
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
RRM
|
47 |
121 |
1e-14 |
SMART |
|
low complexity region
|
138 |
149 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129728
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143916
|
| SMART Domains |
Protein: ENSMUSP00000118556
Gene: ENSMUSG00000032297
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
RRM
|
47 |
123 |
2.16e-19 |
SMART |
|
Pfam:RRM_1
|
136 |
177 |
1.5e-7 |
PFAM |
|
Pfam:RRM_6
|
136 |
177 |
3.7e-6 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146503
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased ultrasonic vocalization, decreased brain serotonin levels, and selective behavioral deficits including an abnormal response to novel odor. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Btbd8 |
A |
G |
5: 107,651,631 (GRCm39) |
T687A |
possibly damaging |
Het |
| C030048H21Rik |
A |
G |
2: 26,145,875 (GRCm39) |
|
probably null |
Het |
| Cav1 |
A |
G |
6: 17,306,471 (GRCm39) |
D8G |
probably damaging |
Het |
| Ctr9 |
A |
G |
7: 110,646,101 (GRCm39) |
I698V |
probably benign |
Het |
| Cts6 |
G |
C |
13: 61,343,272 (GRCm39) |
I316M |
probably benign |
Het |
| Dnajc13 |
C |
A |
9: 104,058,262 (GRCm39) |
R1496L |
probably damaging |
Het |
| Dscam |
A |
G |
16: 96,411,519 (GRCm39) |
Y1786H |
probably damaging |
Het |
| Fcgbpl1 |
C |
T |
7: 27,852,281 (GRCm39) |
T1268I |
probably benign |
Het |
| Itga2 |
C |
G |
13: 114,980,019 (GRCm39) |
D1061H |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Klhl26 |
T |
C |
8: 70,904,194 (GRCm39) |
Y538C |
probably damaging |
Het |
| Ltk |
A |
G |
2: 119,586,094 (GRCm39) |
|
probably null |
Het |
| Med20 |
T |
C |
17: 47,929,842 (GRCm39) |
V93A |
probably benign |
Het |
| Mmp9 |
G |
T |
2: 164,790,958 (GRCm39) |
K115N |
probably damaging |
Het |
| Mroh5 |
A |
T |
15: 73,663,645 (GRCm39) |
D339E |
probably damaging |
Het |
| Muc1 |
A |
T |
3: 89,138,870 (GRCm39) |
D493V |
probably damaging |
Het |
| Mx1 |
G |
T |
16: 97,255,281 (GRCm39) |
S113R |
probably damaging |
Het |
| Nlrp9c |
T |
A |
7: 26,077,523 (GRCm39) |
H698L |
probably damaging |
Het |
| Nol9 |
T |
G |
4: 152,142,293 (GRCm39) |
L641R |
probably damaging |
Het |
| Pla2g4e |
T |
G |
2: 120,016,863 (GRCm39) |
H226P |
possibly damaging |
Het |
| Pou2f1 |
A |
G |
1: 165,722,575 (GRCm39) |
F337L |
probably damaging |
Het |
| Prkn |
A |
T |
17: 12,280,533 (GRCm39) |
D463V |
probably damaging |
Het |
| Ptcd1 |
G |
T |
5: 145,096,316 (GRCm39) |
A259E |
probably benign |
Het |
| Ptov1 |
T |
C |
7: 44,515,000 (GRCm39) |
M204V |
probably benign |
Het |
| Rasal2 |
A |
G |
1: 157,003,402 (GRCm39) |
F419S |
possibly damaging |
Het |
| Rbbp8nl |
A |
G |
2: 179,922,764 (GRCm39) |
S210P |
probably benign |
Het |
| Rgmb |
C |
A |
17: 16,027,888 (GRCm39) |
R277L |
probably benign |
Het |
| Snx2 |
A |
G |
18: 53,309,516 (GRCm39) |
E22G |
probably benign |
Het |
| Snx30 |
A |
T |
4: 59,885,022 (GRCm39) |
R221* |
probably null |
Het |
| Tmem143 |
C |
T |
7: 45,556,376 (GRCm39) |
T97I |
probably damaging |
Het |
| Ttn |
A |
C |
2: 76,644,991 (GRCm39) |
F12955V |
probably damaging |
Het |
| Ubr2 |
C |
T |
17: 47,255,971 (GRCm39) |
|
probably null |
Het |
| Vmn1r203 |
T |
A |
13: 22,708,852 (GRCm39) |
M211K |
probably damaging |
Het |
| Vmn2r121 |
G |
A |
X: 123,038,281 (GRCm39) |
P580S |
probably benign |
Het |
| Zfp804b |
A |
T |
5: 6,821,481 (GRCm39) |
D491E |
probably damaging |
Het |
|
| Other mutations in Celf6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02186:Celf6
|
APN |
9 |
59,510,808 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03172:Celf6
|
APN |
9 |
59,489,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0119:Celf6
|
UTSW |
9 |
59,510,161 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0299:Celf6
|
UTSW |
9 |
59,510,161 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0499:Celf6
|
UTSW |
9 |
59,510,161 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1188:Celf6
|
UTSW |
9 |
59,497,961 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1543:Celf6
|
UTSW |
9 |
59,511,160 (GRCm39) |
splice site |
probably benign |
|
|
R2198:Celf6
|
UTSW |
9 |
59,510,622 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2207:Celf6
|
UTSW |
9 |
59,511,610 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6908:Celf6
|
UTSW |
9 |
59,511,106 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8788:Celf6
|
UTSW |
9 |
59,485,750 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8993:Celf6
|
UTSW |
9 |
59,510,154 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9393:Celf6
|
UTSW |
9 |
59,510,525 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9641:Celf6
|
UTSW |
9 |
59,485,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9662:Celf6
|
UTSW |
9 |
59,485,668 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTTGTGAAATTCGGAAGTCAAGGG -3'
(R):5'- CAGAGGCTAGCAACTGCCAC -3'
Sequencing Primer
(F):5'- CATCCAGGGACTACACGGTAG -3'
(R):5'- TAGCAACTGCCACTGGGTC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation