Incidental Mutation 'R4117:Zfp607b'
ID |
315131 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp607b
|
Ensembl Gene |
ENSMUSG00000057093 |
Gene Name |
zinc finger protein 607B |
Synonyms |
C030039L03Rik |
MMRRC Submission |
040991-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.081)
|
Stock # |
R4117 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
27388765-27405909 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 27398107 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 64
(I64V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112494
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076421]
[ENSMUST00000120004]
|
AlphaFold |
G3X9H3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000076421
AA Change: I64V
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000075755 Gene: ENSMUSG00000057093 AA Change: I64V
Domain | Start | End | E-Value | Type |
KRAB
|
14 |
75 |
1.29e-35 |
SMART |
ZnF_C2H2
|
172 |
194 |
1.08e-1 |
SMART |
ZnF_C2H2
|
200 |
222 |
4.24e-4 |
SMART |
ZnF_C2H2
|
228 |
250 |
2.2e-2 |
SMART |
ZnF_C2H2
|
256 |
278 |
1.69e-3 |
SMART |
ZnF_C2H2
|
284 |
306 |
4.94e-5 |
SMART |
ZnF_C2H2
|
312 |
334 |
2.36e-2 |
SMART |
ZnF_C2H2
|
339 |
361 |
1.18e-2 |
SMART |
ZnF_C2H2
|
367 |
389 |
1.67e-2 |
SMART |
ZnF_C2H2
|
395 |
417 |
1.38e-3 |
SMART |
ZnF_C2H2
|
423 |
445 |
1.06e-4 |
SMART |
ZnF_C2H2
|
451 |
473 |
1.67e-2 |
SMART |
ZnF_C2H2
|
479 |
501 |
6.67e-2 |
SMART |
ZnF_C2H2
|
507 |
529 |
3.52e-1 |
SMART |
ZnF_C2H2
|
535 |
557 |
3.49e-5 |
SMART |
ZnF_C2H2
|
563 |
585 |
1.56e-2 |
SMART |
ZnF_C2H2
|
591 |
613 |
3.89e-3 |
SMART |
ZnF_C2H2
|
619 |
641 |
9.73e-4 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000120004
AA Change: I64V
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000112494 Gene: ENSMUSG00000057093 AA Change: I64V
Domain | Start | End | E-Value | Type |
KRAB
|
14 |
75 |
1.29e-35 |
SMART |
ZnF_C2H2
|
172 |
194 |
1.08e-1 |
SMART |
ZnF_C2H2
|
200 |
222 |
4.24e-4 |
SMART |
ZnF_C2H2
|
228 |
250 |
2.2e-2 |
SMART |
ZnF_C2H2
|
256 |
278 |
1.69e-3 |
SMART |
ZnF_C2H2
|
284 |
306 |
4.94e-5 |
SMART |
ZnF_C2H2
|
312 |
334 |
2.36e-2 |
SMART |
ZnF_C2H2
|
339 |
361 |
1.18e-2 |
SMART |
ZnF_C2H2
|
367 |
389 |
1.67e-2 |
SMART |
ZnF_C2H2
|
395 |
417 |
1.38e-3 |
SMART |
ZnF_C2H2
|
423 |
445 |
1.06e-4 |
SMART |
ZnF_C2H2
|
451 |
473 |
1.67e-2 |
SMART |
ZnF_C2H2
|
479 |
501 |
6.67e-2 |
SMART |
ZnF_C2H2
|
507 |
529 |
3.52e-1 |
SMART |
ZnF_C2H2
|
535 |
557 |
3.49e-5 |
SMART |
ZnF_C2H2
|
563 |
585 |
1.56e-2 |
SMART |
ZnF_C2H2
|
591 |
613 |
3.89e-3 |
SMART |
ZnF_C2H2
|
619 |
641 |
9.73e-4 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124397
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127200
|
Meta Mutation Damage Score |
0.3674 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
97% (31/32) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acss2 |
T |
C |
2: 155,398,313 (GRCm39) |
F358L |
probably damaging |
Het |
Adamts16 |
A |
G |
13: 70,916,111 (GRCm39) |
Y775H |
probably benign |
Het |
Bard1 |
A |
T |
1: 71,085,922 (GRCm39) |
H594Q |
probably damaging |
Het |
Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
Cenpt |
G |
A |
8: 106,576,332 (GRCm39) |
S73L |
probably benign |
Het |
Ctdnep1 |
C |
A |
11: 69,879,497 (GRCm39) |
A7D |
probably damaging |
Het |
Fam210b |
T |
C |
2: 172,193,486 (GRCm39) |
S100P |
probably benign |
Het |
Fyb1 |
A |
C |
15: 6,659,597 (GRCm39) |
D434A |
probably damaging |
Het |
H2-T15 |
T |
C |
17: 36,368,496 (GRCm39) |
D144G |
probably damaging |
Het |
Heph |
T |
C |
X: 95,544,221 (GRCm39) |
V615A |
probably benign |
Het |
Icam5 |
T |
A |
9: 20,948,886 (GRCm39) |
V746E |
probably damaging |
Het |
Maml2 |
A |
G |
9: 13,617,230 (GRCm39) |
Q192R |
probably damaging |
Het |
Npas4 |
T |
C |
19: 5,037,391 (GRCm39) |
Y301C |
probably damaging |
Het |
Nup205 |
C |
T |
6: 35,217,947 (GRCm39) |
Q1767* |
probably null |
Het |
Or51f5 |
T |
A |
7: 102,423,684 (GRCm39) |
|
probably null |
Het |
Pigg |
A |
G |
5: 108,495,908 (GRCm39) |
R982G |
probably benign |
Het |
Plekhg2 |
A |
T |
7: 28,060,313 (GRCm39) |
H1005Q |
probably benign |
Het |
Rdh12 |
C |
T |
12: 79,260,419 (GRCm39) |
R172C |
probably damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Semp2l2b |
T |
A |
10: 21,943,615 (GRCm39) |
N122Y |
probably benign |
Het |
Septin4 |
T |
C |
11: 87,459,108 (GRCm39) |
F494S |
probably damaging |
Het |
Serpinb9 |
T |
A |
13: 33,199,579 (GRCm39) |
D291E |
probably benign |
Het |
She |
A |
T |
3: 89,759,679 (GRCm39) |
Y394F |
probably damaging |
Het |
Sipa1l2 |
T |
C |
8: 126,195,249 (GRCm39) |
S830G |
probably damaging |
Het |
Stmn4 |
T |
C |
14: 66,598,581 (GRCm39) |
*217Q |
probably null |
Het |
Stx17 |
A |
G |
4: 48,180,689 (GRCm39) |
D178G |
probably damaging |
Het |
Tbc1d9 |
T |
G |
8: 83,992,776 (GRCm39) |
I960S |
possibly damaging |
Het |
Ubxn10 |
G |
T |
4: 138,448,276 (GRCm39) |
D133E |
probably benign |
Het |
Vmn2r42 |
T |
C |
7: 8,197,839 (GRCm39) |
Y260C |
probably damaging |
Het |
Vmn2r7 |
A |
C |
3: 64,623,138 (GRCm39) |
|
probably benign |
Het |
Zfp143 |
C |
T |
7: 109,691,120 (GRCm39) |
T557I |
probably damaging |
Het |
|
Other mutations in Zfp607b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02090:Zfp607b
|
APN |
7 |
27,398,140 (GRCm39) |
missense |
possibly damaging |
0.75 |
IGL02114:Zfp607b
|
APN |
7 |
27,403,150 (GRCm39) |
missense |
probably benign |
0.19 |
IGL03171:Zfp607b
|
APN |
7 |
27,393,020 (GRCm39) |
missense |
possibly damaging |
0.70 |
IGL03329:Zfp607b
|
APN |
7 |
27,403,295 (GRCm39) |
missense |
probably damaging |
1.00 |
R0988:Zfp607b
|
UTSW |
7 |
27,402,401 (GRCm39) |
missense |
probably benign |
0.34 |
R1518:Zfp607b
|
UTSW |
7 |
27,398,087 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1672:Zfp607b
|
UTSW |
7 |
27,391,948 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1733:Zfp607b
|
UTSW |
7 |
27,391,949 (GRCm39) |
missense |
possibly damaging |
0.66 |
R1992:Zfp607b
|
UTSW |
7 |
27,401,949 (GRCm39) |
missense |
possibly damaging |
0.87 |
R2849:Zfp607b
|
UTSW |
7 |
27,401,819 (GRCm39) |
missense |
probably benign |
0.00 |
R3879:Zfp607b
|
UTSW |
7 |
27,403,476 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4439:Zfp607b
|
UTSW |
7 |
27,402,149 (GRCm39) |
missense |
probably damaging |
1.00 |
R4610:Zfp607b
|
UTSW |
7 |
27,403,120 (GRCm39) |
missense |
probably damaging |
1.00 |
R4755:Zfp607b
|
UTSW |
7 |
27,402,930 (GRCm39) |
missense |
probably damaging |
1.00 |
R4909:Zfp607b
|
UTSW |
7 |
27,403,221 (GRCm39) |
missense |
probably benign |
|
R5095:Zfp607b
|
UTSW |
7 |
27,393,061 (GRCm39) |
intron |
probably benign |
|
R5301:Zfp607b
|
UTSW |
7 |
27,403,172 (GRCm39) |
missense |
probably benign |
|
R5422:Zfp607b
|
UTSW |
7 |
27,401,813 (GRCm39) |
missense |
probably benign |
0.00 |
R5538:Zfp607b
|
UTSW |
7 |
27,402,294 (GRCm39) |
missense |
probably damaging |
1.00 |
R5546:Zfp607b
|
UTSW |
7 |
27,402,032 (GRCm39) |
missense |
probably benign |
0.19 |
R5644:Zfp607b
|
UTSW |
7 |
27,403,194 (GRCm39) |
missense |
probably damaging |
1.00 |
R5649:Zfp607b
|
UTSW |
7 |
27,403,406 (GRCm39) |
missense |
probably damaging |
1.00 |
R5692:Zfp607b
|
UTSW |
7 |
27,402,889 (GRCm39) |
missense |
probably benign |
0.17 |
R5945:Zfp607b
|
UTSW |
7 |
27,401,841 (GRCm39) |
missense |
probably benign |
0.06 |
R6695:Zfp607b
|
UTSW |
7 |
27,403,464 (GRCm39) |
missense |
probably benign |
0.04 |
R7402:Zfp607b
|
UTSW |
7 |
27,392,919 (GRCm39) |
missense |
probably damaging |
1.00 |
R7515:Zfp607b
|
UTSW |
7 |
27,402,921 (GRCm39) |
missense |
probably benign |
0.03 |
R8402:Zfp607b
|
UTSW |
7 |
27,402,127 (GRCm39) |
missense |
probably damaging |
1.00 |
R8954:Zfp607b
|
UTSW |
7 |
27,403,387 (GRCm39) |
missense |
probably benign |
0.00 |
R9494:Zfp607b
|
UTSW |
7 |
27,403,092 (GRCm39) |
missense |
probably damaging |
1.00 |
R9554:Zfp607b
|
UTSW |
7 |
27,402,464 (GRCm39) |
missense |
probably damaging |
0.99 |
R9727:Zfp607b
|
UTSW |
7 |
27,403,125 (GRCm39) |
missense |
probably benign |
|
Z1177:Zfp607b
|
UTSW |
7 |
27,401,819 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GGGGTCATGGTCAAGTACAC -3'
(R):5'- GTCACTTCTGCTGAAACCGTC -3'
Sequencing Primer
(F):5'- ATTAAAGTGGACTGCTACCTGGC -3'
(R):5'- GTCAAGAACTCTGAGAGCTCTGC -3'
|
Posted On |
2015-05-14 |