Incidental Mutation 'R4488:Zfp949'
| ID |
330598 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp949
|
| Ensembl Gene |
ENSMUSG00000032425 |
| Gene Name |
zinc finger protein 949 |
| Synonyms |
4930422I07Rik, Nczf |
| MMRRC Submission |
041744-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R4488 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
88430073-88453114 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 88452142 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 571
(S571P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125325
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160652]
[ENSMUST00000161458]
[ENSMUST00000162827]
|
| AlphaFold |
E9Q732 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160652
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161458
AA Change: S571P
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000125017
Gene: ENSMUSG00000032425
AA Change: S571P
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
8 |
68 |
2.63e-32 |
SMART |
|
ZnF_C2H2
|
268 |
290 |
5.99e1 |
SMART |
|
ZnF_C2H2
|
296 |
318 |
5.5e-3 |
SMART |
|
ZnF_C2H2
|
324 |
346 |
6.42e-4 |
SMART |
|
ZnF_C2H2
|
352 |
374 |
2.91e-2 |
SMART |
|
ZnF_C2H2
|
380 |
402 |
4.11e-2 |
SMART |
|
ZnF_C2H2
|
408 |
430 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
436 |
458 |
5.67e-5 |
SMART |
|
ZnF_C2H2
|
464 |
486 |
7.9e-4 |
SMART |
|
ZnF_C2H2
|
492 |
514 |
2.43e-4 |
SMART |
|
ZnF_C2H2
|
520 |
542 |
2.95e-3 |
SMART |
|
ZnF_C2H2
|
548 |
570 |
1.03e-2 |
SMART |
|
ZnF_C2H2
|
576 |
598 |
1.4e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162827
AA Change: S571P
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000125325
Gene: ENSMUSG00000032425
AA Change: S571P
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
8 |
68 |
2.63e-32 |
SMART |
|
ZnF_C2H2
|
268 |
290 |
5.99e1 |
SMART |
|
ZnF_C2H2
|
296 |
318 |
5.5e-3 |
SMART |
|
ZnF_C2H2
|
324 |
346 |
6.42e-4 |
SMART |
|
ZnF_C2H2
|
352 |
374 |
2.91e-2 |
SMART |
|
ZnF_C2H2
|
380 |
402 |
4.11e-2 |
SMART |
|
ZnF_C2H2
|
408 |
430 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
436 |
458 |
5.67e-5 |
SMART |
|
ZnF_C2H2
|
464 |
486 |
7.9e-4 |
SMART |
|
ZnF_C2H2
|
492 |
514 |
2.43e-4 |
SMART |
|
ZnF_C2H2
|
520 |
542 |
2.95e-3 |
SMART |
|
ZnF_C2H2
|
548 |
570 |
1.03e-2 |
SMART |
|
ZnF_C2H2
|
576 |
598 |
1.4e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162985
|
| SMART Domains |
Protein: ENSMUSP00000124007
Gene: ENSMUSG00000032425
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
8 |
68 |
2.63e-32 |
SMART |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
95% (38/40) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality during organogenesis with defects in growth, development, cell proliferation, apoptosis and turning. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alkal1 |
A |
T |
1: 6,429,631 (GRCm39) |
Q26L |
probably benign |
Het |
| Bltp1 |
A |
T |
3: 37,058,082 (GRCm39) |
Q3224L |
probably null |
Het |
| Brox |
A |
G |
1: 183,062,514 (GRCm39) |
L280S |
probably benign |
Het |
| Cep41 |
A |
T |
6: 30,655,688 (GRCm39) |
|
probably benign |
Het |
| Cryz |
C |
A |
3: 154,324,094 (GRCm39) |
|
probably benign |
Het |
| Cyp26c1 |
T |
C |
19: 37,681,658 (GRCm39) |
V487A |
probably benign |
Het |
| Dlx6 |
T |
C |
6: 6,867,207 (GRCm39) |
M270T |
probably damaging |
Het |
| Glb1 |
T |
C |
9: 114,272,182 (GRCm39) |
I273T |
probably damaging |
Het |
| Glp1r |
A |
C |
17: 31,137,905 (GRCm39) |
H112P |
probably benign |
Het |
| Grm6 |
T |
C |
11: 50,750,816 (GRCm39) |
S660P |
probably damaging |
Het |
| Hao2 |
T |
A |
3: 98,789,341 (GRCm39) |
I116F |
probably damaging |
Het |
| Hcrtr1 |
A |
G |
4: 130,029,556 (GRCm39) |
V175A |
probably benign |
Het |
| Homer3 |
G |
A |
8: 70,742,793 (GRCm39) |
|
probably null |
Het |
| Kifbp |
A |
G |
10: 62,398,806 (GRCm39) |
|
probably benign |
Het |
| Mki67 |
G |
A |
7: 135,299,400 (GRCm39) |
T1878I |
probably benign |
Het |
| Ncoa6 |
A |
G |
2: 155,249,396 (GRCm39) |
F1303L |
possibly damaging |
Het |
| Ngf |
G |
A |
3: 102,428,015 (GRCm39) |
D255N |
probably damaging |
Het |
| Nutf2 |
T |
A |
8: 106,603,059 (GRCm39) |
|
probably null |
Het |
| Or52e7 |
T |
C |
7: 104,684,510 (GRCm39) |
F35S |
probably benign |
Het |
| Rbm45 |
T |
C |
2: 76,206,740 (GRCm39) |
S251P |
probably damaging |
Het |
| Rnaset2b |
A |
G |
17: 7,265,469 (GRCm39) |
Y155C |
probably damaging |
Het |
| Rnf122 |
A |
G |
8: 31,618,283 (GRCm39) |
T92A |
probably damaging |
Het |
| Rnf220 |
A |
G |
4: 117,347,011 (GRCm39) |
S134P |
probably damaging |
Het |
| Shprh |
A |
T |
10: 11,036,215 (GRCm39) |
I351F |
probably benign |
Het |
| Smchd1 |
T |
C |
17: 71,714,230 (GRCm39) |
T878A |
probably benign |
Het |
| Sulf1 |
G |
T |
1: 12,856,739 (GRCm39) |
|
probably benign |
Het |
| Svil |
T |
C |
18: 5,049,067 (GRCm39) |
Y202H |
probably damaging |
Het |
| Tek |
A |
G |
4: 94,737,993 (GRCm39) |
D681G |
possibly damaging |
Het |
| Tra2a |
A |
G |
6: 49,229,428 (GRCm39) |
|
probably benign |
Het |
| Vcp |
A |
T |
4: 42,993,826 (GRCm39) |
I102N |
probably damaging |
Het |
| Vmn2r25 |
A |
T |
6: 123,799,819 (GRCm39) |
I841N |
probably damaging |
Het |
| Zkscan16 |
A |
G |
4: 58,957,431 (GRCm39) |
E571G |
possibly damaging |
Het |
| Zup1 |
G |
A |
10: 33,824,960 (GRCm39) |
T174I |
probably damaging |
Het |
|
| Other mutations in Zfp949 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03201:Zfp949
|
APN |
9 |
88,450,717 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0034:Zfp949
|
UTSW |
9 |
88,449,693 (GRCm39) |
intron |
probably benign |
|
|
R0462:Zfp949
|
UTSW |
9 |
88,450,787 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R1457:Zfp949
|
UTSW |
9 |
88,451,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1574:Zfp949
|
UTSW |
9 |
88,451,830 (GRCm39) |
nonsense |
probably null |
|
|
R1574:Zfp949
|
UTSW |
9 |
88,451,830 (GRCm39) |
nonsense |
probably null |
|
|
R1878:Zfp949
|
UTSW |
9 |
88,451,356 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1917:Zfp949
|
UTSW |
9 |
88,452,115 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4839:Zfp949
|
UTSW |
9 |
88,452,047 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5309:Zfp949
|
UTSW |
9 |
88,449,236 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5312:Zfp949
|
UTSW |
9 |
88,449,236 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5461:Zfp949
|
UTSW |
9 |
88,451,537 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6530:Zfp949
|
UTSW |
9 |
88,449,340 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6844:Zfp949
|
UTSW |
9 |
88,451,464 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7749:Zfp949
|
UTSW |
9 |
88,451,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7937:Zfp949
|
UTSW |
9 |
88,451,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8150:Zfp949
|
UTSW |
9 |
88,452,053 (GRCm39) |
missense |
probably benign |
|
|
R8290:Zfp949
|
UTSW |
9 |
88,451,293 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8349:Zfp949
|
UTSW |
9 |
88,449,302 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8449:Zfp949
|
UTSW |
9 |
88,449,302 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8808:Zfp949
|
UTSW |
9 |
88,451,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8949:Zfp949
|
UTSW |
9 |
88,450,771 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9219:Zfp949
|
UTSW |
9 |
88,451,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9396:Zfp949
|
UTSW |
9 |
88,449,260 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9486:Zfp949
|
UTSW |
9 |
88,452,182 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9488:Zfp949
|
UTSW |
9 |
88,452,182 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9643:Zfp949
|
UTSW |
9 |
88,436,500 (GRCm39) |
start gained |
probably benign |
|
|
R9727:Zfp949
|
UTSW |
9 |
88,451,913 (GRCm39) |
nonsense |
probably null |
|
|
R9778:Zfp949
|
UTSW |
9 |
88,449,340 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACAAGCATCAGATAATTCACACAGGTG -3'
(R):5'- TTCTAAGGCTTAAAGGTCTATCTGGA -3'
Sequencing Primer
(F):5'- CAGGTGAAAAGCCCTATGAGTGC -3'
(R):5'- GCGAGCTTCTCCATTAAAGATCG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation