Incidental Mutation 'IGL00659:Zfp422'
| ID |
14973 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp422
|
| Ensembl Gene |
ENSMUSG00000059878 |
| Gene Name |
zinc finger protein 422 |
| Synonyms |
KOX15, Krox-25-2, Krox25, Krox26, Krox-26, 2900028O21Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00659
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
116600977-116605960 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 116603466 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 178
(Q178*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108501
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057540]
[ENSMUST00000079749]
[ENSMUST00000112880]
|
| AlphaFold |
Q9ERU3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000057540
AA Change: Q178*
|
| SMART Domains |
Protein: ENSMUSP00000084926
Gene: ENSMUSG00000059878
AA Change: Q178*
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
55 |
77 |
6.32e-3 |
SMART |
|
ZnF_C2H2
|
83 |
105 |
6.32e-3 |
SMART |
|
ZnF_C2H2
|
111 |
133 |
1.06e-4 |
SMART |
|
ZnF_C2H2
|
139 |
161 |
2.53e-2 |
SMART |
|
ZnF_C2H2
|
167 |
189 |
2.12e-4 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000079749
AA Change: Q178*
|
| SMART Domains |
Protein: ENSMUSP00000078685
Gene: ENSMUSG00000059878
AA Change: Q178*
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
55 |
77 |
6.32e-3 |
SMART |
|
ZnF_C2H2
|
83 |
105 |
6.32e-3 |
SMART |
|
ZnF_C2H2
|
111 |
133 |
1.06e-4 |
SMART |
|
ZnF_C2H2
|
139 |
161 |
2.53e-2 |
SMART |
|
ZnF_C2H2
|
167 |
189 |
2.12e-4 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000112880
AA Change: Q178*
|
| SMART Domains |
Protein: ENSMUSP00000108501
Gene: ENSMUSG00000059878
AA Change: Q178*
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
55 |
77 |
6.32e-3 |
SMART |
|
ZnF_C2H2
|
83 |
105 |
6.32e-3 |
SMART |
|
ZnF_C2H2
|
111 |
133 |
1.06e-4 |
SMART |
|
ZnF_C2H2
|
139 |
161 |
2.53e-2 |
SMART |
|
ZnF_C2H2
|
167 |
189 |
2.12e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203788
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204557
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204559
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a putative C2H2 zinc finger transcription factor that may play a role in tooth development. A pseudogene related to this gene is located on chromosome 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap4e1 |
T |
C |
2: 126,905,221 (GRCm39) |
V964A |
probably benign |
Het |
| Birc6 |
T |
A |
17: 74,967,648 (GRCm39) |
V4197E |
probably damaging |
Het |
| C8b |
T |
A |
4: 104,658,531 (GRCm39) |
|
probably benign |
Het |
| Cdh13 |
A |
G |
8: 120,039,406 (GRCm39) |
D616G |
probably damaging |
Het |
| Cfi |
A |
G |
3: 129,630,462 (GRCm39) |
K2E |
unknown |
Het |
| Chek1 |
C |
A |
9: 36,633,895 (GRCm39) |
|
probably null |
Het |
| Chst11 |
T |
G |
10: 83,027,639 (GRCm39) |
|
probably benign |
Het |
| Dhx29 |
A |
G |
13: 113,103,169 (GRCm39) |
|
probably benign |
Het |
| Erbb3 |
A |
G |
10: 128,406,852 (GRCm39) |
S1049P |
probably damaging |
Het |
| Fkbp15 |
T |
C |
4: 62,251,917 (GRCm39) |
|
probably benign |
Het |
| Fxr2 |
C |
A |
11: 69,531,076 (GRCm39) |
Q51K |
probably benign |
Het |
| Kpna7 |
T |
A |
5: 144,944,056 (GRCm39) |
I50F |
probably damaging |
Het |
| Mdm2 |
T |
C |
10: 117,538,204 (GRCm39) |
R65G |
possibly damaging |
Het |
| N4bp1 |
G |
T |
8: 87,588,430 (GRCm39) |
D169E |
probably damaging |
Het |
| Nlrp9a |
A |
G |
7: 26,257,050 (GRCm39) |
I134V |
probably benign |
Het |
| Plrg1 |
T |
A |
3: 82,977,980 (GRCm39) |
S400T |
probably damaging |
Het |
| Polr1b |
T |
C |
2: 128,960,020 (GRCm39) |
|
probably null |
Het |
| Sec23b |
T |
C |
2: 144,425,690 (GRCm39) |
|
probably null |
Het |
| Ubr4 |
C |
T |
4: 139,148,556 (GRCm39) |
T1680I |
probably damaging |
Het |
| Usp29 |
A |
G |
7: 6,965,281 (GRCm39) |
N375D |
probably benign |
Het |
| Wrn |
A |
G |
8: 33,812,405 (GRCm39) |
|
probably benign |
Het |
| Zfp938 |
T |
A |
10: 82,063,355 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Zfp422 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00593:Zfp422
|
APN |
6 |
116,603,919 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03199:Zfp422
|
APN |
6 |
116,603,912 (GRCm39) |
missense |
probably benign |
0.43 |
|
R0190:Zfp422
|
UTSW |
6 |
116,603,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1572:Zfp422
|
UTSW |
6 |
116,603,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1756:Zfp422
|
UTSW |
6 |
116,603,385 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2290:Zfp422
|
UTSW |
6 |
116,603,603 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R3724:Zfp422
|
UTSW |
6 |
116,603,340 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3932:Zfp422
|
UTSW |
6 |
116,603,420 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3933:Zfp422
|
UTSW |
6 |
116,603,420 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4700:Zfp422
|
UTSW |
6 |
116,603,844 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R4806:Zfp422
|
UTSW |
6 |
116,603,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4957:Zfp422
|
UTSW |
6 |
116,603,904 (GRCm39) |
nonsense |
probably null |
|
|
R5784:Zfp422
|
UTSW |
6 |
116,603,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6361:Zfp422
|
UTSW |
6 |
116,603,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8303:Zfp422
|
UTSW |
6 |
116,603,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9089:Zfp422
|
UTSW |
6 |
116,604,086 (GRCm39) |
start gained |
probably benign |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation