Incidental Mutation 'R1201:Zfp607a'
| ID |
101373 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp607a
|
| Ensembl Gene |
ENSMUSG00000020420 |
| Gene Name |
zinc finger protein 607A |
| Synonyms |
Zfp607, 4732475C15Rik |
| MMRRC Submission |
039271-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R1201 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
27556952-27580250 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 27578736 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 602
(F602Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146006
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053722]
[ENSMUST00000205534]
[ENSMUST00000205715]
|
| AlphaFold |
Q3TQG9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053722
AA Change: F602Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000051496
Gene: ENSMUSG00000020420
AA Change: F602Y
| 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 damaging
Transcript: ENSMUST00000205534
AA Change: F602Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000205715
AA Change: F602Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206136
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 89.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
A |
G |
2: 68,546,626 (GRCm39) |
T103A |
possibly damaging |
Het |
| Acly |
A |
G |
11: 100,384,761 (GRCm39) |
I674T |
probably damaging |
Het |
| Aco2 |
C |
T |
15: 81,779,394 (GRCm39) |
S33L |
probably damaging |
Het |
| Actc1 |
A |
G |
2: 113,879,994 (GRCm39) |
|
probably null |
Het |
| Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
| Arhgap40 |
A |
C |
2: 158,376,689 (GRCm39) |
D275A |
probably damaging |
Het |
| Bltp1 |
A |
G |
3: 37,002,524 (GRCm39) |
S1490G |
probably benign |
Het |
| Car11 |
A |
G |
7: 45,352,904 (GRCm39) |
D221G |
probably benign |
Het |
| Catsperg1 |
A |
T |
7: 28,891,095 (GRCm39) |
H596Q |
possibly damaging |
Het |
| Ccm2 |
T |
C |
11: 6,543,682 (GRCm39) |
V231A |
probably benign |
Het |
| Crh |
A |
G |
3: 19,748,090 (GRCm39) |
I184T |
probably damaging |
Het |
| Csgalnact2 |
A |
G |
6: 118,091,393 (GRCm39) |
S424P |
probably damaging |
Het |
| Dbf4 |
A |
C |
5: 8,447,498 (GRCm39) |
L571V |
possibly damaging |
Het |
| Fancm |
A |
G |
12: 65,153,542 (GRCm39) |
K66E |
possibly damaging |
Het |
| Hydin |
T |
C |
8: 111,296,487 (GRCm39) |
V3672A |
probably benign |
Het |
| Kcnh2 |
C |
T |
5: 24,527,670 (GRCm39) |
R894H |
probably damaging |
Het |
| Krt36 |
T |
C |
11: 99,994,883 (GRCm39) |
N230D |
probably benign |
Het |
| Nlrp4b |
G |
T |
7: 10,449,363 (GRCm39) |
R522L |
possibly damaging |
Het |
| Ntn1 |
T |
C |
11: 68,104,052 (GRCm39) |
D532G |
probably damaging |
Het |
| Numb |
A |
T |
12: 83,848,059 (GRCm39) |
V215D |
probably damaging |
Het |
| Or1x2 |
T |
A |
11: 50,917,937 (GRCm39) |
M36K |
probably damaging |
Het |
| Or4k15 |
T |
A |
14: 50,364,813 (GRCm39) |
W260R |
probably damaging |
Het |
| Or5k8 |
A |
G |
16: 58,644,226 (GRCm39) |
I282T |
probably damaging |
Het |
| Or6b2b |
T |
G |
1: 92,418,875 (GRCm39) |
I201L |
probably benign |
Het |
| Or7a39 |
A |
T |
10: 78,715,311 (GRCm39) |
M102L |
probably benign |
Het |
| Otulinl |
G |
A |
15: 27,658,259 (GRCm39) |
Q84* |
probably null |
Het |
| Pidd1 |
A |
G |
7: 141,020,187 (GRCm39) |
F580L |
probably benign |
Het |
| Plekhg4 |
A |
G |
8: 106,108,305 (GRCm39) |
D1116G |
probably damaging |
Het |
| Prss33 |
G |
T |
17: 24,054,084 (GRCm39) |
S74* |
probably null |
Het |
| Rab34 |
T |
A |
11: 78,081,222 (GRCm39) |
|
probably null |
Het |
| Rims2 |
A |
C |
15: 39,479,720 (GRCm39) |
T1251P |
possibly damaging |
Het |
| Skint5 |
A |
G |
4: 113,413,342 (GRCm39) |
S1152P |
unknown |
Het |
| Slc6a17 |
T |
A |
3: 107,400,388 (GRCm39) |
Q206L |
possibly damaging |
Het |
| Tmem59l |
C |
T |
8: 70,937,037 (GRCm39) |
W310* |
probably null |
Het |
| Tnrc6c |
T |
G |
11: 117,612,500 (GRCm39) |
N379K |
probably damaging |
Het |
| Vmn1r76 |
A |
C |
7: 11,664,252 (GRCm39) |
F286V |
probably benign |
Het |
| Xdh |
T |
C |
17: 74,225,413 (GRCm39) |
D463G |
probably benign |
Het |
| Zfp251 |
C |
T |
15: 76,738,436 (GRCm39) |
R219Q |
possibly damaging |
Het |
| Zfp263 |
T |
A |
16: 3,567,294 (GRCm39) |
H536Q |
probably damaging |
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 |
|
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 |
|
R3793:Zfp607a
|
UTSW |
7 |
27,578,331 (GRCm39) |
missense |
probably benign |
0.01 |
|
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'- AGTCCTTCAAGCATGTCTCCAGCC -3'
(R):5'- ACCAGTATGAATTCCCCAATATGCAGC -3'
Sequencing Primer
(F):5'- ACATAGGGTTATCCATGCCG -3'
(R):5'- ctccgccacaattcttcac -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation