Incidental Mutation 'R9395:Zic1'
| ID |
710791 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zic1
|
| Ensembl Gene |
ENSMUSG00000032368 |
| Gene Name |
zinc finger protein of the cerebellum 1 |
| Synonyms |
odd-paired homolog |
| MMRRC Submission |
068965-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.934)
|
| Stock # |
R9395 (G1)
|
| Quality Score |
183.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
91240111-91247863 bp(-) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
T to A
at 91247070 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 1
(M1L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034927
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034927]
[ENSMUST00000065360]
[ENSMUST00000172646]
[ENSMUST00000173054]
[ENSMUST00000173342]
|
| AlphaFold |
P46684 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034927
AA Change: M1L
PolyPhen 2
Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000034927
Gene: ENSMUSG00000032368
AA Change: M1L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
68 |
85 |
N/A |
INTRINSIC |
|
low complexity region
|
110 |
134 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
238 |
260 |
6.82e1 |
SMART |
|
ZnF_C2H2
|
269 |
296 |
7.49e0 |
SMART |
|
ZnF_C2H2
|
302 |
326 |
8.02e-5 |
SMART |
|
ZnF_C2H2
|
332 |
356 |
1.58e-3 |
SMART |
|
ZnF_C2H2
|
362 |
384 |
4.54e-4 |
SMART |
|
low complexity region
|
386 |
400 |
N/A |
INTRINSIC |
|
low complexity region
|
403 |
427 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065360
AA Change: M1L
PolyPhen 2
Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000068858
Gene: ENSMUSG00000032368
AA Change: M1L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
68 |
85 |
N/A |
INTRINSIC |
|
low complexity region
|
110 |
134 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
238 |
260 |
6.82e1 |
SMART |
|
ZnF_C2H2
|
269 |
296 |
7.49e0 |
SMART |
|
ZnF_C2H2
|
302 |
326 |
8.02e-5 |
SMART |
|
ZnF_C2H2
|
332 |
356 |
1.58e-3 |
SMART |
|
ZnF_C2H2
|
362 |
384 |
4.54e-4 |
SMART |
|
low complexity region
|
386 |
400 |
N/A |
INTRINSIC |
|
low complexity region
|
403 |
427 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172646
|
| SMART Domains |
Protein: ENSMUSP00000134053
Gene: ENSMUSG00000036972
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
128 |
162 |
4.74e1 |
SMART |
|
ZnF_C2H2
|
171 |
198 |
7.68e0 |
SMART |
|
ZnF_C2H2
|
204 |
228 |
8.02e-5 |
SMART |
|
ZnF_C2H2
|
234 |
258 |
7.15e-2 |
SMART |
|
ZnF_C2H2
|
264 |
288 |
3.21e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173054
|
| SMART Domains |
Protein: ENSMUSP00000134364
Gene: ENSMUSG00000036972
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2EJ4|A
|
122 |
181 |
3e-16 |
PDB |
|
Blast:ZnF_C2H2
|
128 |
151 |
5e-9 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173342
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. Members of this family are important during development. Aberrant expression of this gene is seen in medulloblastoma, a childhood brain tumor. This gene is closely linked to the gene encoding zinc finger protein of the cerebellum 4, a related family member on chromosome 3. This gene encodes a transcription factor that can bind and transactivate the apolipoprotein E gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants show cerebellar hypoplasia with a missing lobule of the anterior lobe. Newborn pups suckle poorly. 50% die within one day of birth and almost all die within 3 weeks; longer survivors show marked ataxia and exhibit tonic convulsions. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adh7 |
A |
T |
3: 137,927,477 (GRCm39) |
I8F |
probably damaging |
Het |
| Ak1 |
A |
G |
2: 32,523,708 (GRCm39) |
D207G |
probably damaging |
Het |
| Arhgef28 |
TAA |
TA |
13: 98,103,692 (GRCm39) |
|
probably null |
Het |
| Cacna2d1 |
T |
C |
5: 16,140,013 (GRCm39) |
M1T |
probably null |
Het |
| Cgnl1 |
T |
C |
9: 71,539,954 (GRCm39) |
M1097V |
probably benign |
Het |
| Chrm2 |
G |
A |
6: 36,501,196 (GRCm39) |
G351D |
possibly damaging |
Het |
| Cntnap2 |
C |
A |
6: 45,978,244 (GRCm39) |
R300S |
probably damaging |
Het |
| Cpa5 |
T |
C |
6: 30,631,280 (GRCm39) |
L398P |
probably damaging |
Het |
| Csl |
T |
A |
10: 99,595,020 (GRCm39) |
N15I |
probably damaging |
Het |
| Csrp3 |
A |
T |
7: 48,489,231 (GRCm39) |
V17D |
probably damaging |
Het |
| Cyb5d1 |
T |
C |
11: 69,284,531 (GRCm39) |
N207S |
probably benign |
Het |
| Ecel1 |
A |
T |
1: 87,082,350 (GRCm39) |
I121N |
probably damaging |
Het |
| Elapor2 |
T |
C |
5: 9,477,822 (GRCm39) |
S407P |
probably benign |
Het |
| Gad2 |
T |
C |
2: 22,514,879 (GRCm39) |
L119P |
probably damaging |
Het |
| Gpr139 |
A |
T |
7: 118,743,811 (GRCm39) |
M258K |
probably benign |
Het |
| Hhipl1 |
A |
G |
12: 108,285,009 (GRCm39) |
Y454C |
probably damaging |
Het |
| Ifitm10 |
A |
T |
7: 141,924,704 (GRCm39) |
V45D |
probably damaging |
Het |
| Lpl |
T |
A |
8: 69,353,952 (GRCm39) |
I431N |
probably damaging |
Het |
| Myh14 |
A |
T |
7: 44,274,584 (GRCm39) |
W1235R |
possibly damaging |
Het |
| Nacc2 |
A |
G |
2: 25,950,128 (GRCm39) |
V536A |
probably damaging |
Het |
| Nalf2 |
C |
T |
X: 98,889,097 (GRCm39) |
R321W |
probably damaging |
Het |
| Neu4 |
T |
A |
1: 93,950,218 (GRCm39) |
L59Q |
probably damaging |
Het |
| Obscn |
T |
A |
11: 58,946,871 (GRCm39) |
I4088F |
probably damaging |
Het |
| Or8b37 |
T |
C |
9: 37,959,136 (GRCm39) |
V206A |
probably damaging |
Het |
| Otof |
G |
A |
5: 30,532,976 (GRCm39) |
R1589C |
probably damaging |
Het |
| Pla2g3 |
C |
T |
11: 3,440,952 (GRCm39) |
Q306* |
probably null |
Het |
| Pramel12 |
A |
G |
4: 143,145,605 (GRCm39) |
E358G |
probably benign |
Het |
| Prl6a1 |
A |
T |
13: 27,499,400 (GRCm39) |
H56L |
possibly damaging |
Het |
| Rev3l |
T |
C |
10: 39,735,219 (GRCm39) |
|
probably null |
Het |
| Rims2 |
T |
A |
15: 39,155,664 (GRCm39) |
F115Y |
probably damaging |
Het |
| Spcs2 |
T |
C |
7: 99,488,924 (GRCm39) |
T221A |
probably benign |
Het |
| Stmn1 |
C |
T |
4: 134,200,146 (GRCm39) |
A73V |
probably damaging |
Het |
| Syne1 |
T |
A |
10: 5,261,728 (GRCm39) |
K2250I |
probably damaging |
Het |
| Tcf7l2 |
C |
T |
19: 55,920,200 (GRCm39) |
Q578* |
probably null |
Het |
| Tgtp2 |
A |
T |
11: 48,950,083 (GRCm39) |
M163K |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,542,006 (GRCm39) |
N33660S |
probably benign |
Het |
| Txndc11 |
A |
G |
16: 10,902,683 (GRCm39) |
F655L |
probably benign |
Het |
| Ubtf |
G |
A |
11: 102,205,026 (GRCm39) |
T86I |
probably damaging |
Het |
| Vmn2r89 |
T |
A |
14: 51,693,783 (GRCm39) |
W378R |
probably damaging |
Het |
|
| Other mutations in Zic1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02022:Zic1
|
APN |
9 |
91,244,525 (GRCm39) |
splice site |
probably null |
|
|
IGL02669:Zic1
|
APN |
9 |
91,246,486 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL02968:Zic1
|
APN |
9 |
91,244,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4812001:Zic1
|
UTSW |
9 |
91,246,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1493:Zic1
|
UTSW |
9 |
91,246,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1599:Zic1
|
UTSW |
9 |
91,243,741 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1742:Zic1
|
UTSW |
9 |
91,243,629 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2158:Zic1
|
UTSW |
9 |
91,246,946 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4587:Zic1
|
UTSW |
9 |
91,246,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4735:Zic1
|
UTSW |
9 |
91,246,558 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R4830:Zic1
|
UTSW |
9 |
91,244,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5186:Zic1
|
UTSW |
9 |
91,246,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5702:Zic1
|
UTSW |
9 |
91,246,133 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6298:Zic1
|
UTSW |
9 |
91,246,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7221:Zic1
|
UTSW |
9 |
91,246,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7250:Zic1
|
UTSW |
9 |
91,247,028 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7764:Zic1
|
UTSW |
9 |
91,247,745 (GRCm39) |
intron |
probably benign |
|
|
R7806:Zic1
|
UTSW |
9 |
91,247,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7951:Zic1
|
UTSW |
9 |
91,244,654 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8408:Zic1
|
UTSW |
9 |
91,246,847 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8483:Zic1
|
UTSW |
9 |
91,246,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8754:Zic1
|
UTSW |
9 |
91,244,701 (GRCm39) |
intron |
probably benign |
|
|
R9185:Zic1
|
UTSW |
9 |
91,246,542 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9269:Zic1
|
UTSW |
9 |
91,246,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9579:Zic1
|
UTSW |
9 |
91,246,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9725:Zic1
|
UTSW |
9 |
91,246,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF011:Zic1
|
UTSW |
9 |
91,246,383 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Zic1
|
UTSW |
9 |
91,246,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1186:Zic1
|
UTSW |
9 |
91,243,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCCCGGGTAGAATTGAAAGC -3'
(R):5'- GGGCTGAGATGTTCTATGCC -3'
Sequencing Primer
(F):5'- ACGTGAAGGCTGTCTGGC -3'
(R):5'- GGGCAGCCTTGATTCGAG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation