Incidental Mutation 'IGL01787:Zfp948'
| ID |
155085 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp948
|
| Ensembl Gene |
ENSMUSG00000067931 |
| Gene Name |
zinc finger protein 948 |
| Synonyms |
BC049807 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.145)
|
| Stock # |
IGL01787
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
21787270-21808961 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 21807333 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 175
(A175V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086166
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088787]
|
| AlphaFold |
Q6DFU8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000088787
AA Change: A175V
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000086166
Gene: ENSMUSG00000067931
AA Change: A175V
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
13 |
72 |
1.04e-21 |
SMART |
|
low complexity region
|
164 |
173 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
214 |
236 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
242 |
264 |
9.58e-3 |
SMART |
|
ZnF_C2H2
|
270 |
292 |
2.84e-5 |
SMART |
|
ZnF_C2H2
|
298 |
320 |
8.22e-2 |
SMART |
|
ZnF_C2H2
|
353 |
375 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
381 |
403 |
9.88e-5 |
SMART |
|
ZnF_C2H2
|
409 |
431 |
9.08e-4 |
SMART |
|
ZnF_C2H2
|
437 |
459 |
2.2e-2 |
SMART |
|
ZnF_C2H2
|
465 |
487 |
5.99e-4 |
SMART |
|
ZnF_C2H2
|
493 |
515 |
8.47e-4 |
SMART |
|
ZnF_C2H2
|
521 |
543 |
5.21e-4 |
SMART |
|
ZnF_C2H2
|
549 |
571 |
9.73e-4 |
SMART |
|
ZnF_C2H2
|
577 |
599 |
2.43e-4 |
SMART |
|
ZnF_C2H2
|
605 |
627 |
2.91e-2 |
SMART |
|
ZnF_C2H2
|
633 |
655 |
4.72e-2 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahctf1 |
A |
G |
1: 179,580,887 (GRCm39) |
S1772P |
probably benign |
Het |
| Cstdc3 |
T |
A |
16: 36,131,591 (GRCm39) |
Y34N |
probably damaging |
Het |
| Epsti1 |
T |
C |
14: 78,210,052 (GRCm39) |
|
probably null |
Het |
| Mtrr |
A |
T |
13: 68,719,266 (GRCm39) |
L325Q |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,186,367 (GRCm39) |
K902E |
possibly damaging |
Het |
| Nfkbie |
T |
C |
17: 45,867,189 (GRCm39) |
L108P |
probably damaging |
Het |
| Or2n1d |
T |
A |
17: 38,646,470 (GRCm39) |
C141S |
probably damaging |
Het |
| Or4c52 |
A |
T |
2: 89,845,655 (GRCm39) |
Y127F |
probably damaging |
Het |
| Pcdh15 |
A |
G |
10: 74,286,115 (GRCm39) |
D712G |
probably benign |
Het |
| Polr3k |
T |
C |
2: 181,506,251 (GRCm39) |
|
probably benign |
Het |
| Shkbp1 |
A |
C |
7: 27,041,875 (GRCm39) |
F660V |
possibly damaging |
Het |
| Smchd1 |
T |
C |
17: 71,698,413 (GRCm39) |
D1121G |
probably damaging |
Het |
| Srgap3 |
A |
T |
6: 112,699,983 (GRCm39) |
D998E |
probably benign |
Het |
| Stab1 |
T |
C |
14: 30,861,765 (GRCm39) |
D14G |
probably damaging |
Het |
| Tap1 |
T |
C |
17: 34,415,578 (GRCm39) |
S641P |
probably benign |
Het |
| Tgm3 |
C |
T |
2: 129,889,660 (GRCm39) |
S618F |
possibly damaging |
Het |
| Tgm6 |
T |
C |
2: 129,993,354 (GRCm39) |
|
probably benign |
Het |
| Tmco5 |
A |
T |
2: 116,717,781 (GRCm39) |
E194D |
probably damaging |
Het |
| Treml4 |
T |
A |
17: 48,571,732 (GRCm39) |
V45E |
probably damaging |
Het |
| Uggt2 |
A |
T |
14: 119,319,146 (GRCm39) |
M292K |
probably damaging |
Het |
| Usp5 |
A |
T |
6: 124,801,189 (GRCm39) |
D179E |
possibly damaging |
Het |
| Ythdf1 |
A |
G |
2: 180,553,486 (GRCm39) |
L216P |
probably damaging |
Het |
|
| Other mutations in Zfp948 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0212:Zfp948
|
UTSW |
17 |
21,808,422 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0225:Zfp948
|
UTSW |
17 |
21,807,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0433:Zfp948
|
UTSW |
17 |
21,807,764 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0437:Zfp948
|
UTSW |
17 |
21,807,260 (GRCm39) |
missense |
unknown |
|
|
R0490:Zfp948
|
UTSW |
17 |
21,808,296 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1245:Zfp948
|
UTSW |
17 |
21,807,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1818:Zfp948
|
UTSW |
17 |
21,805,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2106:Zfp948
|
UTSW |
17 |
21,807,953 (GRCm39) |
nonsense |
probably null |
|
|
R3692:Zfp948
|
UTSW |
17 |
21,807,838 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4767:Zfp948
|
UTSW |
17 |
21,808,569 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5226:Zfp948
|
UTSW |
17 |
21,808,505 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5753:Zfp948
|
UTSW |
17 |
21,807,156 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5766:Zfp948
|
UTSW |
17 |
21,805,078 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5959:Zfp948
|
UTSW |
17 |
21,807,776 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6167:Zfp948
|
UTSW |
17 |
21,807,911 (GRCm39) |
missense |
probably benign |
0.38 |
|
R6291:Zfp948
|
UTSW |
17 |
21,807,286 (GRCm39) |
missense |
unknown |
|
|
R6312:Zfp948
|
UTSW |
17 |
21,807,429 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R6482:Zfp948
|
UTSW |
17 |
21,807,813 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7046:Zfp948
|
UTSW |
17 |
21,808,719 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7053:Zfp948
|
UTSW |
17 |
21,805,121 (GRCm39) |
nonsense |
probably null |
|
|
R7207:Zfp948
|
UTSW |
17 |
21,808,602 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7222:Zfp948
|
UTSW |
17 |
21,808,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7460:Zfp948
|
UTSW |
17 |
21,808,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7760:Zfp948
|
UTSW |
17 |
21,808,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7818:Zfp948
|
UTSW |
17 |
21,807,985 (GRCm39) |
missense |
probably benign |
0.14 |
|
RF011:Zfp948
|
UTSW |
17 |
21,808,574 (GRCm39) |
missense |
probably damaging |
0.97 |
|
X0023:Zfp948
|
UTSW |
17 |
21,807,122 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2014-02-04 |
Incidental Mutation