Incidental Mutation 'R4439:Zfp607b'
| ID |
329675 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp607b
|
| Ensembl Gene |
ENSMUSG00000057093 |
| Gene Name |
zinc finger protein 607B |
| Synonyms |
C030039L03Rik |
| MMRRC Submission |
041704-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R4439 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
27388765-27405909 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 27402149 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 202
(C202S)
|
| 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: C202S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000075755
Gene: ENSMUSG00000057093
AA Change: C202S
| 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: C202S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112494
Gene: ENSMUSG00000057093
AA Change: C202S
| 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
|
| Meta Mutation Damage Score |
0.7835 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
94% (50/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
C |
T |
5: 114,384,557 (GRCm39) |
T2237I |
possibly damaging |
Het |
| Adgre1 |
T |
A |
17: 57,754,954 (GRCm39) |
L684Q |
probably damaging |
Het |
| Cfap157 |
T |
A |
2: 32,667,877 (GRCm39) |
Y488F |
probably benign |
Het |
| D630045J12Rik |
A |
G |
6: 38,171,696 (GRCm39) |
I824T |
probably benign |
Het |
| Eno2 |
T |
C |
6: 124,739,922 (GRCm39) |
|
probably benign |
Het |
| Fam78b |
C |
A |
1: 166,906,491 (GRCm39) |
Q217K |
probably damaging |
Het |
| Fpgs |
C |
T |
2: 32,577,513 (GRCm39) |
C219Y |
probably damaging |
Het |
| Garem2 |
G |
T |
5: 30,318,344 (GRCm39) |
V106L |
possibly damaging |
Het |
| Grk3 |
A |
T |
5: 113,094,543 (GRCm39) |
|
probably null |
Het |
| H3c2 |
A |
T |
13: 23,936,708 (GRCm39) |
|
probably null |
Het |
| Hint2 |
T |
A |
4: 43,654,919 (GRCm39) |
Y70F |
probably damaging |
Het |
| Ipp |
A |
G |
4: 116,372,274 (GRCm39) |
N101S |
probably benign |
Het |
| Kcnj1 |
A |
T |
9: 32,305,414 (GRCm39) |
|
probably benign |
Het |
| Kcnk4 |
T |
C |
19: 6,910,129 (GRCm39) |
D44G |
probably benign |
Het |
| Kif5c |
T |
C |
2: 49,578,737 (GRCm39) |
S122P |
possibly damaging |
Het |
| Mideas |
C |
T |
12: 84,203,245 (GRCm39) |
G886S |
probably benign |
Het |
| Nipbl |
T |
A |
15: 8,368,208 (GRCm39) |
K1171N |
probably damaging |
Het |
| Or4k39 |
T |
A |
2: 111,239,653 (GRCm39) |
|
noncoding transcript |
Het |
| Pcf11 |
A |
C |
7: 92,307,225 (GRCm39) |
L981R |
probably damaging |
Het |
| Pias2 |
T |
A |
18: 77,185,399 (GRCm39) |
L153H |
probably damaging |
Het |
| Pjvk |
T |
C |
2: 76,481,750 (GRCm39) |
S68P |
probably damaging |
Het |
| Pkd1 |
T |
C |
17: 24,804,666 (GRCm39) |
V3130A |
probably damaging |
Het |
| Plpp4 |
C |
A |
7: 128,858,813 (GRCm39) |
|
probably benign |
Het |
| Plxnd1 |
T |
A |
6: 115,970,937 (GRCm39) |
H277L |
probably damaging |
Het |
| Pramel26 |
A |
T |
4: 143,538,143 (GRCm39) |
V276E |
possibly damaging |
Het |
| Rasgrf2 |
T |
C |
13: 92,131,797 (GRCm39) |
D620G |
possibly damaging |
Het |
| Rd3l |
C |
A |
12: 111,946,092 (GRCm39) |
S63I |
possibly damaging |
Het |
| Scfd2 |
G |
C |
5: 74,558,368 (GRCm39) |
A503G |
possibly damaging |
Het |
| Slco4a1 |
T |
C |
2: 180,114,455 (GRCm39) |
V549A |
probably benign |
Het |
| Tenm4 |
A |
G |
7: 96,545,022 (GRCm39) |
N2375S |
probably benign |
Het |
| Tespa1 |
C |
T |
10: 130,197,826 (GRCm39) |
R283C |
probably damaging |
Het |
| Tle2 |
A |
G |
10: 81,417,516 (GRCm39) |
E227G |
possibly damaging |
Het |
| Tnn |
T |
G |
1: 159,943,650 (GRCm39) |
E1054D |
probably benign |
Het |
| Tnrc6a |
A |
T |
7: 122,751,405 (GRCm39) |
K54* |
probably null |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Tpr |
T |
A |
1: 150,279,712 (GRCm39) |
D206E |
probably benign |
Het |
| Ugt2b34 |
A |
T |
5: 87,040,726 (GRCm39) |
F399I |
probably damaging |
Het |
| Usp3 |
A |
T |
9: 66,425,776 (GRCm39) |
D456E |
probably benign |
Het |
| Vmn1r60 |
T |
A |
7: 5,547,488 (GRCm39) |
H204L |
probably damaging |
Het |
| Vmn2r97 |
G |
T |
17: 19,150,616 (GRCm39) |
A488S |
probably benign |
Het |
| Vrk3 |
C |
T |
7: 44,424,866 (GRCm39) |
T427M |
probably benign |
Het |
| Wdr86 |
T |
C |
5: 24,935,235 (GRCm39) |
D36G |
probably damaging |
Het |
| Zc3h4 |
C |
T |
7: 16,163,036 (GRCm39) |
P479S |
unknown |
Het |
| Zfhx4 |
A |
T |
3: 5,279,875 (GRCm39) |
|
probably benign |
Het |
| Zfp882 |
T |
A |
8: 72,667,453 (GRCm39) |
F93L |
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 |
|
R4117:Zfp607b
|
UTSW |
7 |
27,398,107 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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'- CATTCAAAGGACTACAGGGTTATC -3'
(R):5'- GACACGGCTGAAGAACTTCC -3'
Sequencing Primer
(F):5'- CTACAGGGTTATCAAGGAGATGCTG -3'
(R):5'- GGCTGAAGAACTTCCCACATACTTC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation