Incidental Mutation 'R6529:Zfp975'
| ID |
522184 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp975
|
| Ensembl Gene |
ENSMUSG00000069727 |
| Gene Name |
zinc finger protein 975 |
| Synonyms |
Gm5595 |
| MMRRC Submission |
044655-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R6529 (G1)
|
| Quality Score |
190.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
42309529-42342166 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 42311325 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 429
(H429Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103626
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107992]
|
| AlphaFold |
Q6NVD6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107992
AA Change: H429Q
PolyPhen 2
Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000103626
Gene: ENSMUSG00000069727
AA Change: H429Q
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
4 |
66 |
1.53e-19 |
SMART |
|
ZnF_C2H2
|
131 |
153 |
7.78e-3 |
SMART |
|
ZnF_C2H2
|
159 |
181 |
9.73e-4 |
SMART |
|
ZnF_C2H2
|
187 |
209 |
1.47e-3 |
SMART |
|
ZnF_C2H2
|
215 |
237 |
3.89e-3 |
SMART |
|
ZnF_C2H2
|
243 |
265 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
271 |
293 |
7.26e-3 |
SMART |
|
ZnF_C2H2
|
299 |
321 |
1.58e-3 |
SMART |
|
ZnF_C2H2
|
327 |
349 |
7.9e-4 |
SMART |
|
ZnF_C2H2
|
355 |
377 |
5.9e-3 |
SMART |
|
ZnF_C2H2
|
383 |
405 |
1.58e-3 |
SMART |
|
ZnF_C2H2
|
411 |
433 |
6.32e-3 |
SMART |
|
ZnF_C2H2
|
439 |
461 |
8.47e-4 |
SMART |
|
ZnF_C2H2
|
467 |
489 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
495 |
517 |
3.16e-3 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.6%
|
| Validation Efficiency |
98% (41/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
A |
T |
7: 78,739,479 (GRCm39) |
M296L |
probably benign |
Het |
| Atxn2 |
T |
C |
5: 121,949,677 (GRCm39) |
|
probably null |
Het |
| B3galnt2 |
G |
T |
13: 14,170,377 (GRCm39) |
R242S |
probably benign |
Het |
| Bltp3a |
A |
G |
17: 28,098,750 (GRCm39) |
I218M |
possibly damaging |
Het |
| Casz1 |
G |
A |
4: 149,022,646 (GRCm39) |
E571K |
probably damaging |
Het |
| Ccdc163 |
A |
G |
4: 116,566,121 (GRCm39) |
|
probably null |
Het |
| Cd109 |
A |
G |
9: 78,619,907 (GRCm39) |
D1383G |
probably damaging |
Het |
| Cd200r1 |
A |
G |
16: 44,610,065 (GRCm39) |
T95A |
possibly damaging |
Het |
| Chd2 |
T |
C |
7: 73,153,191 (GRCm39) |
E219G |
possibly damaging |
Het |
| Cibar1 |
A |
G |
4: 12,168,978 (GRCm39) |
V175A |
probably damaging |
Het |
| Dnah14 |
T |
A |
1: 181,494,034 (GRCm39) |
V1730D |
probably damaging |
Het |
| Eps8 |
G |
A |
6: 137,491,335 (GRCm39) |
H348Y |
possibly damaging |
Het |
| Fbxo2 |
A |
T |
4: 148,249,511 (GRCm39) |
D187V |
probably damaging |
Het |
| Fsip2 |
A |
T |
2: 82,812,657 (GRCm39) |
Y2992F |
probably benign |
Het |
| Gle1 |
A |
T |
2: 29,825,539 (GRCm39) |
T10S |
possibly damaging |
Het |
| Got2 |
T |
C |
8: 96,615,013 (GRCm39) |
|
probably benign |
Het |
| Gtf3c6 |
T |
C |
10: 40,127,251 (GRCm39) |
T34A |
probably benign |
Het |
| H4c11 |
G |
T |
13: 21,919,476 (GRCm39) |
V71F |
possibly damaging |
Het |
| Klf15 |
C |
T |
6: 90,444,394 (GRCm39) |
T323I |
probably damaging |
Het |
| Krtap5-3 |
C |
A |
7: 141,756,079 (GRCm39) |
C305* |
probably null |
Het |
| Map2k6 |
A |
T |
11: 110,383,388 (GRCm39) |
D99V |
probably damaging |
Het |
| Nckap5l |
G |
T |
15: 99,324,475 (GRCm39) |
P676Q |
probably benign |
Het |
| Nup188 |
A |
T |
2: 30,216,466 (GRCm39) |
T757S |
possibly damaging |
Het |
| Or10ak13 |
C |
T |
4: 118,638,907 (GRCm39) |
V292I |
probably benign |
Het |
| Or51q1c |
T |
C |
7: 103,653,133 (GRCm39) |
V217A |
probably benign |
Het |
| Peg3 |
C |
A |
7: 6,711,071 (GRCm39) |
A1384S |
probably damaging |
Het |
| Plekho2 |
C |
T |
9: 65,480,383 (GRCm39) |
R14H |
probably benign |
Het |
| Qsox2 |
A |
T |
2: 26,107,753 (GRCm39) |
C247S |
probably damaging |
Het |
| Slc25a13 |
A |
G |
6: 6,073,451 (GRCm39) |
V469A |
probably benign |
Het |
| Slitrk3 |
T |
C |
3: 72,958,551 (GRCm39) |
T74A |
probably benign |
Het |
| Spmip7 |
T |
C |
11: 11,465,009 (GRCm39) |
F120S |
possibly damaging |
Het |
| Sult1a1 |
T |
C |
7: 126,274,310 (GRCm39) |
T91A |
probably benign |
Het |
| Sult3a2 |
T |
C |
10: 33,655,733 (GRCm39) |
Y82C |
probably damaging |
Het |
| Taf1b |
A |
T |
12: 24,606,650 (GRCm39) |
H490L |
possibly damaging |
Het |
| Trrap |
T |
A |
5: 144,771,014 (GRCm39) |
H2804Q |
probably benign |
Het |
| Usp8 |
A |
G |
2: 126,567,298 (GRCm39) |
I106V |
probably benign |
Het |
| Wdcp |
T |
A |
12: 4,901,143 (GRCm39) |
V333D |
probably damaging |
Het |
| Wdr46 |
T |
A |
17: 34,168,120 (GRCm39) |
L564Q |
possibly damaging |
Het |
| Wrn |
T |
C |
8: 33,826,004 (GRCm39) |
|
probably null |
Het |
| Zfp664 |
C |
T |
5: 124,963,352 (GRCm39) |
H249Y |
probably damaging |
Het |
|
| Other mutations in Zfp975 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02008:Zfp975
|
APN |
7 |
42,312,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0194:Zfp975
|
UTSW |
7 |
42,311,916 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0662:Zfp975
|
UTSW |
7 |
42,311,950 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1491:Zfp975
|
UTSW |
7 |
42,312,236 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1573:Zfp975
|
UTSW |
7 |
42,311,507 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1738:Zfp975
|
UTSW |
7 |
42,312,373 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1833:Zfp975
|
UTSW |
7 |
42,311,263 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2185:Zfp975
|
UTSW |
7 |
42,311,105 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4031:Zfp975
|
UTSW |
7 |
42,312,377 (GRCm39) |
nonsense |
probably null |
|
|
R4090:Zfp975
|
UTSW |
7 |
42,312,298 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4356:Zfp975
|
UTSW |
7 |
42,311,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4631:Zfp975
|
UTSW |
7 |
42,312,369 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4795:Zfp975
|
UTSW |
7 |
42,314,570 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4896:Zfp975
|
UTSW |
7 |
42,311,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5266:Zfp975
|
UTSW |
7 |
42,311,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5267:Zfp975
|
UTSW |
7 |
42,311,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5580:Zfp975
|
UTSW |
7 |
42,314,513 (GRCm39) |
nonsense |
probably null |
|
|
R5874:Zfp975
|
UTSW |
7 |
42,312,312 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5898:Zfp975
|
UTSW |
7 |
42,311,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6782:Zfp975
|
UTSW |
7 |
42,311,454 (GRCm39) |
missense |
probably benign |
0.41 |
|
R6937:Zfp975
|
UTSW |
7 |
42,314,480 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R7088:Zfp975
|
UTSW |
7 |
42,312,096 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7233:Zfp975
|
UTSW |
7 |
42,311,918 (GRCm39) |
missense |
probably benign |
0.38 |
|
R7253:Zfp975
|
UTSW |
7 |
42,311,036 (GRCm39) |
makesense |
probably null |
|
|
R7358:Zfp975
|
UTSW |
7 |
42,312,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7659:Zfp975
|
UTSW |
7 |
42,311,848 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7999:Zfp975
|
UTSW |
7 |
42,312,356 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8676:Zfp975
|
UTSW |
7 |
42,312,264 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8957:Zfp975
|
UTSW |
7 |
42,311,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9274:Zfp975
|
UTSW |
7 |
42,312,299 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9326:Zfp975
|
UTSW |
7 |
42,311,837 (GRCm39) |
nonsense |
probably null |
|
|
R9536:Zfp975
|
UTSW |
7 |
42,312,345 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9569:Zfp975
|
UTSW |
7 |
42,311,413 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9717:Zfp975
|
UTSW |
7 |
42,312,332 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCTTTACCACATTGACTACA -3'
(R):5'- GTGATAAAGGCTTTGCACAGCTC -3'
Sequencing Primer
(F):5'- ACCACATTGACTACATTCATAGGG -3'
(R):5'- TGGTAAAGCCTTTGCACAGC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation