Incidental Mutation 'R3793:Zfp607a'
| ID |
272649 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp607a
|
| Ensembl Gene |
ENSMUSG00000020420 |
| Gene Name |
zinc finger protein 607A |
| Synonyms |
Zfp607, 4732475C15Rik |
| MMRRC Submission |
040755-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R3793 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
27556952-27580250 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 27578331 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 467
(H467L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146006
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053722]
[ENSMUST00000205534]
[ENSMUST00000205715]
|
| AlphaFold |
Q3TQG9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053722
AA Change: H467L
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000051496
Gene: ENSMUSG00000020420
AA Change: H467L
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
14 |
75 |
8.48e-36 |
SMART |
|
ZnF_C2H2
|
173 |
195 |
2.91e-2 |
SMART |
|
ZnF_C2H2
|
201 |
223 |
3.44e-4 |
SMART |
|
ZnF_C2H2
|
229 |
251 |
3.83e-2 |
SMART |
|
ZnF_C2H2
|
257 |
279 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
285 |
307 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
313 |
335 |
4.17e-3 |
SMART |
|
ZnF_C2H2
|
341 |
363 |
2.86e-1 |
SMART |
|
ZnF_C2H2
|
369 |
391 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
397 |
419 |
1.2e-3 |
SMART |
|
ZnF_C2H2
|
425 |
447 |
4.47e-3 |
SMART |
|
ZnF_C2H2
|
453 |
475 |
1.1e-2 |
SMART |
|
ZnF_C2H2
|
481 |
503 |
1.45e-2 |
SMART |
|
ZnF_C2H2
|
509 |
531 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
537 |
559 |
1.5e-4 |
SMART |
|
ZnF_C2H2
|
565 |
587 |
8.34e-3 |
SMART |
|
ZnF_C2H2
|
593 |
615 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
621 |
643 |
6.42e-4 |
SMART |
|
ZnF_C2H2
|
649 |
671 |
6.23e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205534
AA Change: H467L
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205715
AA Change: H467L
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206136
|
| Meta Mutation Damage Score |
0.3851 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.4%
|
| Validation Efficiency |
98% (50/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap13 |
A |
G |
7: 75,259,889 (GRCm39) |
T35A |
probably benign |
Het |
| Arhgap32 |
T |
A |
9: 32,166,669 (GRCm39) |
S435R |
probably damaging |
Het |
| Asic1 |
A |
T |
15: 99,569,906 (GRCm39) |
K76* |
probably null |
Het |
| B9d1 |
A |
G |
11: 61,398,448 (GRCm39) |
|
probably benign |
Het |
| Casd1 |
T |
C |
6: 4,619,876 (GRCm39) |
V207A |
possibly damaging |
Het |
| Cass4 |
C |
T |
2: 172,274,478 (GRCm39) |
P753L |
probably damaging |
Het |
| Cnfn |
T |
C |
7: 25,067,805 (GRCm39) |
N45S |
probably benign |
Het |
| Col14a1 |
G |
T |
15: 55,226,909 (GRCm39) |
D220Y |
unknown |
Het |
| Csn1s1 |
T |
A |
5: 87,828,702 (GRCm39) |
Y274* |
probably null |
Het |
| Cyp2c69 |
T |
C |
19: 39,869,600 (GRCm39) |
T140A |
probably benign |
Het |
| Dlg2 |
A |
T |
7: 91,459,743 (GRCm39) |
|
probably benign |
Het |
| Esp16 |
T |
C |
17: 39,848,739 (GRCm39) |
I11T |
possibly damaging |
Het |
| Esyt3 |
A |
T |
9: 99,197,334 (GRCm39) |
F832Y |
possibly damaging |
Het |
| Ift172 |
C |
T |
5: 31,414,925 (GRCm39) |
D1366N |
possibly damaging |
Het |
| Itga4 |
A |
G |
2: 79,109,472 (GRCm39) |
T224A |
probably benign |
Het |
| Itprid1 |
A |
T |
6: 55,952,588 (GRCm39) |
M844L |
possibly damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Krt71 |
C |
T |
15: 101,651,345 (GRCm39) |
S46N |
probably damaging |
Het |
| Lhx1 |
A |
G |
11: 84,412,726 (GRCm39) |
S65P |
probably benign |
Het |
| Lingo4 |
A |
G |
3: 94,309,685 (GRCm39) |
S208G |
probably benign |
Het |
| Lrrc2 |
T |
A |
9: 110,795,585 (GRCm39) |
C123* |
probably null |
Het |
| Nfrkb |
A |
T |
9: 31,321,228 (GRCm39) |
|
probably benign |
Het |
| Nfx1 |
T |
A |
4: 41,004,357 (GRCm39) |
C709* |
probably null |
Het |
| Nlrp14 |
A |
T |
7: 106,781,481 (GRCm39) |
Q226L |
probably benign |
Het |
| Ocln |
T |
C |
13: 100,635,402 (GRCm39) |
R496G |
possibly damaging |
Het |
| Or2b2b |
T |
C |
13: 21,859,153 (GRCm39) |
|
probably null |
Het |
| Or7e173 |
T |
A |
9: 19,938,359 (GRCm39) |
I292F |
probably damaging |
Het |
| Osgepl1 |
T |
C |
1: 53,359,406 (GRCm39) |
I305T |
probably damaging |
Het |
| Ovgp1 |
A |
G |
3: 105,887,487 (GRCm39) |
N266S |
probably benign |
Het |
| Per1 |
A |
G |
11: 69,000,127 (GRCm39) |
E1273G |
probably benign |
Het |
| Plch1 |
A |
G |
3: 63,605,252 (GRCm39) |
Y1542H |
probably damaging |
Het |
| Pold1 |
A |
G |
7: 44,190,994 (GRCm39) |
F252L |
probably damaging |
Het |
| Ptk2b |
A |
T |
14: 66,407,700 (GRCm39) |
D607E |
probably damaging |
Het |
| Sdf4 |
T |
A |
4: 156,086,916 (GRCm39) |
|
probably null |
Het |
| Sirt4 |
T |
C |
5: 115,618,351 (GRCm39) |
D241G |
probably benign |
Het |
| Sla2 |
G |
A |
2: 156,717,862 (GRCm39) |
R137C |
probably damaging |
Het |
| Slco1b2 |
A |
G |
6: 141,622,033 (GRCm39) |
Y531C |
probably damaging |
Het |
| Tmem200a |
A |
T |
10: 25,870,087 (GRCm39) |
S61T |
probably damaging |
Het |
| Trp53bp1 |
T |
C |
2: 121,030,810 (GRCm39) |
I1784V |
probably damaging |
Het |
| Uba2 |
A |
C |
7: 33,845,722 (GRCm39) |
V467G |
probably damaging |
Het |
| Ubr3 |
T |
C |
2: 69,747,525 (GRCm39) |
S263P |
possibly damaging |
Het |
| Ugt2b35 |
A |
G |
5: 87,149,465 (GRCm39) |
T239A |
probably benign |
Het |
| Wac |
T |
C |
18: 7,920,190 (GRCm39) |
V348A |
possibly damaging |
Het |
| Wdr3 |
A |
T |
3: 100,059,281 (GRCm39) |
M346K |
probably benign |
Het |
|
| Other mutations in Zfp607a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00164:Zfp607a
|
APN |
7 |
27,577,214 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL01019:Zfp607a
|
APN |
7 |
27,578,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01412:Zfp607a
|
APN |
7 |
27,578,109 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03206:Zfp607a
|
APN |
7 |
27,577,248 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R0071:Zfp607a
|
UTSW |
7 |
27,577,694 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0304:Zfp607a
|
UTSW |
7 |
27,578,637 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0685:Zfp607a
|
UTSW |
7 |
27,577,901 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0726:Zfp607a
|
UTSW |
7 |
27,578,574 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1201:Zfp607a
|
UTSW |
7 |
27,578,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1304:Zfp607a
|
UTSW |
7 |
27,565,000 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1648:Zfp607a
|
UTSW |
7 |
27,578,493 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1732:Zfp607a
|
UTSW |
7 |
27,577,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2194:Zfp607a
|
UTSW |
7 |
27,578,805 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R3808:Zfp607a
|
UTSW |
7 |
27,578,826 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4296:Zfp607a
|
UTSW |
7 |
27,565,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4786:Zfp607a
|
UTSW |
7 |
27,578,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4792:Zfp607a
|
UTSW |
7 |
27,578,078 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4915:Zfp607a
|
UTSW |
7 |
27,577,985 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4950:Zfp607a
|
UTSW |
7 |
27,578,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5123:Zfp607a
|
UTSW |
7 |
27,578,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5217:Zfp607a
|
UTSW |
7 |
27,577,269 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5270:Zfp607a
|
UTSW |
7 |
27,577,730 (GRCm39) |
nonsense |
probably null |
|
|
R5403:Zfp607a
|
UTSW |
7 |
27,578,744 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R6010:Zfp607a
|
UTSW |
7 |
27,577,254 (GRCm39) |
nonsense |
probably null |
|
|
R6224:Zfp607a
|
UTSW |
7 |
27,578,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6939:Zfp607a
|
UTSW |
7 |
27,578,473 (GRCm39) |
nonsense |
probably null |
|
|
R6953:Zfp607a
|
UTSW |
7 |
27,577,790 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R7082:Zfp607a
|
UTSW |
7 |
27,578,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7781:Zfp607a
|
UTSW |
7 |
27,565,000 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7909:Zfp607a
|
UTSW |
7 |
27,578,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8191:Zfp607a
|
UTSW |
7 |
27,578,868 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8224:Zfp607a
|
UTSW |
7 |
27,577,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8949:Zfp607a
|
UTSW |
7 |
27,577,944 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R8962:Zfp607a
|
UTSW |
7 |
27,578,786 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9178:Zfp607a
|
UTSW |
7 |
27,577,382 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9802:Zfp607a
|
UTSW |
7 |
27,578,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGTCAGCCTTTAGACGTAAG -3'
(R):5'- TTTCAAACCGGCATGGATAACC -3'
Sequencing Primer
(F):5'- CCTTTAGACGTAAGGACCAGCTTAG -3'
(R):5'- CCCTATGTTCAATAAGGCTGGAGAC -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation