Incidental Mutation 'IGL00593:Zfp422'
ID |
10404 |
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 # |
IGL00593
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
116600977-116605960 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 116603919 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 27
(A27S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108501
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057540]
[ENSMUST00000079749]
[ENSMUST00000112880]
|
AlphaFold |
Q9ERU3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000057540
AA Change: A27S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000084926 Gene: ENSMUSG00000059878 AA Change: A27S
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 benign
Transcript: ENSMUST00000079749
AA Change: A27S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000078685 Gene: ENSMUSG00000059878 AA Change: A27S
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 benign
Transcript: ENSMUST00000112880
AA Change: A27S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000108501 Gene: ENSMUSG00000059878 AA Change: A27S
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: 15 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agtr2 |
A |
T |
X: 21,352,719 (GRCm39) |
K118* |
probably null |
Het |
Akap14 |
A |
T |
X: 36,414,484 (GRCm39) |
H525Q |
possibly damaging |
Het |
Crb1 |
T |
C |
1: 139,250,983 (GRCm39) |
I323V |
probably benign |
Het |
H60b |
T |
C |
10: 22,162,962 (GRCm39) |
I179T |
possibly damaging |
Het |
Krt34 |
A |
G |
11: 99,929,520 (GRCm39) |
|
probably benign |
Het |
Mroh9 |
T |
C |
1: 162,873,350 (GRCm39) |
N541D |
possibly damaging |
Het |
Plxnb1 |
A |
T |
9: 108,942,936 (GRCm39) |
I1841F |
probably benign |
Het |
Ppp4r3b |
A |
G |
11: 29,147,205 (GRCm39) |
D3G |
possibly damaging |
Het |
Rp1 |
T |
C |
1: 4,415,626 (GRCm39) |
T1829A |
possibly damaging |
Het |
Ssx2ip |
T |
C |
3: 146,142,307 (GRCm39) |
F468L |
probably damaging |
Het |
Togaram1 |
A |
G |
12: 65,053,173 (GRCm39) |
E1301G |
probably damaging |
Het |
Tpd52l2 |
A |
T |
2: 181,141,689 (GRCm39) |
D24V |
probably damaging |
Het |
Trmo |
A |
G |
4: 46,382,490 (GRCm39) |
V209A |
probably benign |
Het |
Zfp141 |
A |
T |
7: 42,124,731 (GRCm39) |
C580* |
probably null |
Het |
Zfp786 |
A |
T |
6: 47,796,605 (GRCm39) |
*778R |
probably null |
Het |
|
Other mutations in Zfp422 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00659:Zfp422
|
APN |
6 |
116,603,466 (GRCm39) |
nonsense |
probably null |
|
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 |