Incidental Mutation 'R6361:Zfp422'
| ID |
513114 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp422
|
| Ensembl Gene |
ENSMUSG00000059878 |
| Gene Name |
zinc finger protein 422 |
| Synonyms |
KOX15, Krox-25-2, Krox25, Krox26, Krox-26, 2900028O21Rik |
| MMRRC Submission |
044511-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6361 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
116600977-116605960 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 116603781 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 73
(H73Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108501
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057540]
[ENSMUST00000079749]
[ENSMUST00000112880]
|
| AlphaFold |
Q9ERU3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057540
AA Change: H73Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000084926
Gene: ENSMUSG00000059878
AA Change: H73Y
| 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 damaging
Transcript: ENSMUST00000079749
AA Change: H73Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000078685
Gene: ENSMUSG00000059878
AA Change: H73Y
| 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 damaging
Transcript: ENSMUST00000112880
AA Change: H73Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000108501
Gene: ENSMUSG00000059878
AA Change: H73Y
| 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
|
| Meta Mutation Damage Score |
0.7592 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.3%
|
| Validation Efficiency |
98% (43/44) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asap1 |
C |
T |
15: 64,221,672 (GRCm39) |
|
probably null |
Het |
| Cabin1 |
G |
A |
10: 75,562,699 (GRCm39) |
A29V |
possibly damaging |
Het |
| Cadps |
G |
A |
14: 12,491,778 (GRCm38) |
Q791* |
probably null |
Het |
| Cdc14b |
T |
C |
13: 64,364,023 (GRCm39) |
|
probably null |
Het |
| Cep89 |
C |
T |
7: 35,097,472 (GRCm39) |
P33S |
probably damaging |
Het |
| Clec18a |
A |
G |
8: 111,807,661 (GRCm39) |
|
probably benign |
Het |
| Cln5 |
T |
A |
14: 103,313,637 (GRCm39) |
D296E |
probably benign |
Het |
| Col6a4 |
A |
T |
9: 105,943,902 (GRCm39) |
S1191T |
probably benign |
Het |
| Crispld1 |
A |
G |
1: 17,832,455 (GRCm39) |
I480M |
probably damaging |
Het |
| Dhrs7 |
A |
C |
12: 72,711,433 (GRCm39) |
L32V |
probably damaging |
Het |
| Dscam |
T |
C |
16: 96,424,011 (GRCm39) |
T1645A |
probably benign |
Het |
| Eif2b3 |
A |
G |
4: 116,885,622 (GRCm39) |
T55A |
possibly damaging |
Het |
| Ercc6 |
T |
C |
14: 32,239,067 (GRCm39) |
Y52H |
probably benign |
Het |
| Fam170b |
C |
A |
14: 32,558,028 (GRCm39) |
Q288K |
unknown |
Het |
| Flt4 |
A |
G |
11: 49,521,405 (GRCm39) |
T442A |
probably benign |
Het |
| Gm19402 |
A |
T |
10: 77,525,895 (GRCm39) |
|
probably benign |
Het |
| Gm4841 |
A |
G |
18: 60,403,832 (GRCm39) |
I87T |
probably damaging |
Het |
| Hspb7 |
A |
G |
4: 141,149,860 (GRCm39) |
E82G |
possibly damaging |
Het |
| Itgb3 |
A |
G |
11: 104,556,408 (GRCm39) |
K750E |
possibly damaging |
Het |
| Itsn2 |
A |
G |
12: 4,679,655 (GRCm39) |
M155V |
probably benign |
Het |
| Marchf8 |
A |
T |
6: 116,379,062 (GRCm39) |
D332V |
probably null |
Het |
| Mst1r |
A |
G |
9: 107,793,052 (GRCm39) |
M1042V |
probably benign |
Het |
| Muc4 |
T |
C |
16: 32,587,725 (GRCm39) |
F2756L |
probably benign |
Het |
| Myl6b |
T |
A |
10: 128,333,078 (GRCm39) |
K55* |
probably null |
Het |
| Or1j19 |
A |
G |
2: 36,676,792 (GRCm39) |
N85S |
probably damaging |
Het |
| Or4c123 |
A |
T |
2: 89,126,990 (GRCm39) |
I208N |
probably damaging |
Het |
| Or4k51 |
G |
T |
2: 111,584,940 (GRCm39) |
L115F |
probably damaging |
Het |
| Or7g18 |
T |
C |
9: 18,787,027 (GRCm39) |
Y132H |
probably damaging |
Het |
| Or8g50 |
A |
C |
9: 39,648,968 (GRCm39) |
N286H |
probably damaging |
Het |
| Pcca |
A |
G |
14: 122,875,794 (GRCm39) |
D141G |
probably benign |
Het |
| Pkd2 |
C |
T |
5: 104,634,546 (GRCm39) |
R526* |
probably null |
Het |
| Polr2a |
C |
A |
11: 69,634,163 (GRCm39) |
A756S |
probably damaging |
Het |
| Prkd2 |
T |
C |
7: 16,581,579 (GRCm39) |
S145P |
probably damaging |
Het |
| Rhbdf1 |
T |
C |
11: 32,162,915 (GRCm39) |
N451D |
possibly damaging |
Het |
| Rundc3a |
G |
A |
11: 102,291,621 (GRCm39) |
R358Q |
probably damaging |
Het |
| Spata31g1 |
A |
T |
4: 42,972,695 (GRCm39) |
D676V |
probably benign |
Het |
| Spef1l |
T |
A |
7: 139,556,585 (GRCm39) |
D134V |
possibly damaging |
Het |
| Tbc1d4 |
T |
C |
14: 101,744,610 (GRCm39) |
K339E |
probably damaging |
Het |
| Usp37 |
A |
G |
1: 74,493,052 (GRCm39) |
I723T |
probably benign |
Het |
| Vwa2 |
A |
T |
19: 56,889,958 (GRCm39) |
|
probably null |
Het |
| Zdbf2 |
A |
C |
1: 63,342,480 (GRCm39) |
R286S |
possibly damaging |
Het |
| Zfp868 |
T |
C |
8: 70,064,564 (GRCm39) |
H257R |
probably damaging |
Het |
| Zzef1 |
A |
G |
11: 72,775,175 (GRCm39) |
S1723G |
possibly damaging |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTTCATGTGCTGCCTCAGATG -3'
(R):5'- TATTTCTCGAAGCGCCAGC -3'
Sequencing Primer
(F):5'- TCATCACAGCAGTAGGGCTTC -3'
(R):5'- GCGCCAGCCAAGGAAAAGC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation