Incidental Mutation 'R9662:Celf6'
| ID |
727631 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Celf6
|
| Ensembl Gene |
ENSMUSG00000032297 |
| Gene Name |
CUGBP, Elav-like family member 6 |
| Synonyms |
6330569O16Rik, Brunol6 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9662 (G1)
|
| Quality Score |
137.008 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
59485200-59514575 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 59485668 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 3
(A3V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034840
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034840]
[ENSMUST00000118549]
[ENSMUST00000129357]
[ENSMUST00000143916]
|
| AlphaFold |
Q7TN33 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000034840
AA Change: A3V
|
| SMART Domains |
Protein: ENSMUSP00000034840
Gene: ENSMUSG00000032297
AA Change: A3V
| 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 |
unknown
Transcript: ENSMUST00000118549
AA Change: A3V
|
| SMART Domains |
Protein: ENSMUSP00000112755
Gene: ENSMUSG00000032297
AA Change: A3V
| 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 |
unknown
Transcript: ENSMUST00000129357
AA Change: A3V
|
| SMART Domains |
Protein: ENSMUSP00000122167
Gene: ENSMUSG00000032297
AA Change: A3V
| 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 |
probably benign
Transcript: ENSMUST00000143916
AA Change: A3V
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000118556
Gene: ENSMUSG00000032297
AA Change: A3V
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl3 |
T |
A |
6: 34,809,468 (GRCm39) |
Y698* |
probably null |
Het |
| Arhgef28 |
C |
A |
13: 98,065,969 (GRCm39) |
G1628V |
probably benign |
Het |
| Bcr |
T |
C |
10: 75,011,152 (GRCm39) |
V1018A |
probably benign |
Het |
| Cadps |
T |
A |
14: 12,411,567 (GRCm38) |
E1263V |
probably benign |
Het |
| Cdc14a |
T |
A |
3: 116,088,484 (GRCm39) |
K446M |
probably damaging |
Het |
| Clip2 |
C |
T |
5: 134,533,616 (GRCm39) |
R487Q |
probably benign |
Het |
| Col1a1 |
A |
G |
11: 94,836,667 (GRCm39) |
S709G |
probably benign |
Het |
| Dnah17 |
A |
T |
11: 117,925,166 (GRCm39) |
L3889H |
probably damaging |
Het |
| Dnah2 |
T |
C |
11: 69,343,763 (GRCm39) |
T2849A |
probably benign |
Het |
| Exog |
A |
G |
9: 119,281,376 (GRCm39) |
R229G |
probably benign |
Het |
| Fnbp1 |
T |
A |
2: 30,986,042 (GRCm39) |
K114N |
probably damaging |
Het |
| Gm21149 |
A |
T |
5: 15,681,357 (GRCm39) |
N35K |
probably damaging |
Het |
| Gm7324 |
A |
T |
14: 43,952,434 (GRCm39) |
D359V |
unknown |
Het |
| Grin3a |
A |
T |
4: 49,792,432 (GRCm39) |
S434T |
possibly damaging |
Het |
| H2-Q6 |
C |
T |
17: 35,644,185 (GRCm39) |
R56C |
probably damaging |
Het |
| Hmgcll1 |
A |
T |
9: 75,922,397 (GRCm39) |
Y14F |
probably benign |
Het |
| Kcna6 |
T |
G |
6: 126,715,380 (GRCm39) |
E503A |
probably benign |
Het |
| Kmt2a |
A |
G |
9: 44,731,428 (GRCm39) |
V2963A |
unknown |
Het |
| Ltk |
G |
T |
2: 119,582,330 (GRCm39) |
S807* |
probably null |
Het |
| Mars1 |
A |
G |
10: 127,136,349 (GRCm39) |
L492P |
probably damaging |
Het |
| Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
| Myo7a |
T |
A |
7: 97,747,499 (GRCm39) |
Y111F |
possibly damaging |
Het |
| Ndst3 |
T |
A |
3: 123,465,115 (GRCm39) |
I286L |
probably benign |
Het |
| Nup210l |
C |
T |
3: 90,107,173 (GRCm39) |
P1570L |
probably benign |
Het |
| Parg |
T |
C |
14: 31,971,976 (GRCm39) |
L657S |
probably damaging |
Het |
| Ppip5k1 |
T |
C |
2: 121,174,054 (GRCm39) |
T356A |
probably benign |
Het |
| Ppp3ca |
T |
C |
3: 136,583,501 (GRCm39) |
S203P |
probably damaging |
Het |
| Raver1 |
C |
T |
9: 20,992,550 (GRCm39) |
R293H |
probably benign |
Het |
| Robo2 |
C |
T |
16: 73,758,566 (GRCm39) |
|
probably null |
Het |
| Sgsm1 |
G |
A |
5: 113,427,097 (GRCm39) |
P398L |
probably benign |
Het |
| Slc6a19 |
A |
T |
13: 73,839,822 (GRCm39) |
C153* |
probably null |
Het |
| Tbx1 |
T |
C |
16: 18,400,882 (GRCm39) |
H434R |
unknown |
Het |
| Tmem151a |
C |
A |
19: 5,132,717 (GRCm39) |
R163L |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,671,604 (GRCm39) |
V11320A |
unknown |
Het |
| Zfp207 |
G |
A |
11: 80,286,029 (GRCm39) |
M423I |
unknown |
Het |
| Zfp251 |
A |
T |
15: 76,737,520 (GRCm39) |
H524Q |
possibly damaging |
Het |
| Zfp318 |
C |
T |
17: 46,724,383 (GRCm39) |
R2129W |
probably damaging |
Het |
| Zfp763 |
T |
A |
17: 33,240,787 (GRCm39) |
D14V |
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 |
|
R4460:Celf6
|
UTSW |
9 |
59,510,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACCACGCCCATTTTCAGTC -3'
(R):5'- GCTGCGCTCTAATTGGATTG -3'
Sequencing Primer
(F):5'- ATTTTCAGTCCGCCCCG -3'
(R):5'- AGCACCGTCAGCTCGTAGATG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation