Incidental Mutation 'R5649:Zfp607b'
| ID |
441319 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp607b
|
| Ensembl Gene |
ENSMUSG00000057093 |
| Gene Name |
zinc finger protein 607B |
| Synonyms |
C030039L03Rik |
| MMRRC Submission |
043170-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R5649 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
27689340-27706484 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 27703981 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Glycine
at position 621
(C621G)
|
| 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: C621G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000075755
Gene: ENSMUSG00000057093
AA Change: C621G
| 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: C621G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000112494
Gene: ENSMUSG00000057093
AA Change: C621G
| 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
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610009B22Rik |
T |
C |
11: 51,685,972 (GRCm38) |
E33G |
probably benign |
Het |
| Abca12 |
T |
C |
1: 71,291,342 (GRCm38) |
T1385A |
probably damaging |
Het |
| Apc2 |
T |
A |
10: 80,314,138 (GRCm38) |
D1646E |
probably damaging |
Het |
| Aspm |
G |
A |
1: 139,479,669 (GRCm38) |
R2098H |
probably benign |
Het |
| Atl3 |
C |
A |
19: 7,532,227 (GRCm38) |
T435N |
possibly damaging |
Het |
| Cdh22 |
G |
T |
2: 165,116,280 (GRCm38) |
T589K |
probably damaging |
Het |
| Cnot3 |
T |
C |
7: 3,658,083 (GRCm38) |
L561S |
probably benign |
Het |
| Col5a1 |
A |
G |
2: 27,951,456 (GRCm38) |
D363G |
unknown |
Het |
| Cyp24a1 |
T |
C |
2: 170,496,309 (GRCm38) |
D105G |
possibly damaging |
Het |
| Dennd4a |
C |
A |
9: 64,851,209 (GRCm38) |
|
probably null |
Het |
| Dnah8 |
A |
G |
17: 30,800,587 (GRCm38) |
K3878R |
probably benign |
Het |
| Dock4 |
T |
C |
12: 40,844,540 (GRCm38) |
S1900P |
probably benign |
Het |
| Fancg |
A |
G |
4: 43,008,736 (GRCm38) |
L167P |
probably damaging |
Het |
| Ighd2-8 |
A |
G |
12: 113,450,867 (GRCm38) |
S1P |
possibly damaging |
Het |
| Kif28 |
A |
G |
1: 179,697,771 (GRCm38) |
|
probably null |
Het |
| Mrpl55 |
T |
A |
11: 59,204,571 (GRCm38) |
C20* |
probably null |
Het |
| Myo5a |
A |
G |
9: 75,171,719 (GRCm38) |
K920E |
possibly damaging |
Het |
| Naa35 |
G |
A |
13: 59,622,866 (GRCm38) |
|
probably benign |
Het |
| Olfm3 |
A |
G |
3: 115,096,924 (GRCm38) |
R76G |
probably damaging |
Het |
| Olfr304 |
T |
C |
7: 86,386,313 (GRCm38) |
M116V |
probably damaging |
Het |
| Olfr705 |
T |
C |
7: 106,714,166 (GRCm38) |
R172G |
possibly damaging |
Het |
| Pcdha12 |
A |
T |
18: 37,022,415 (GRCm38) |
D729V |
probably benign |
Het |
| Phf11c |
T |
C |
14: 59,385,532 (GRCm38) |
|
probably null |
Het |
| Phf20 |
T |
A |
2: 156,251,768 (GRCm38) |
|
probably null |
Het |
| Plbd1 |
T |
A |
6: 136,616,989 (GRCm38) |
Y376F |
probably benign |
Het |
| Poglut1 |
A |
G |
16: 38,531,811 (GRCm38) |
V257A |
probably damaging |
Het |
| Reln |
A |
G |
5: 21,901,625 (GRCm38) |
I3249T |
probably benign |
Het |
| Rgsl1 |
G |
A |
1: 153,825,893 (GRCm38) |
P272S |
possibly damaging |
Het |
| Slc15a2 |
A |
T |
16: 36,772,110 (GRCm38) |
Y197* |
probably null |
Het |
| Slc45a2 |
C |
T |
15: 11,012,607 (GRCm38) |
T232I |
probably benign |
Het |
| Ssc5d |
T |
A |
7: 4,926,518 (GRCm38) |
|
probably null |
Het |
| Thbs2 |
T |
C |
17: 14,689,953 (GRCm38) |
Y128C |
probably damaging |
Het |
| Them4 |
A |
T |
3: 94,331,544 (GRCm38) |
L219F |
possibly damaging |
Het |
| Tmem30b |
G |
T |
12: 73,546,166 (GRCm38) |
N58K |
probably benign |
Het |
| Ttc29 |
G |
A |
8: 78,246,313 (GRCm38) |
E131K |
possibly damaging |
Het |
| Vmn1r29 |
C |
G |
6: 58,307,691 (GRCm38) |
S132C |
probably benign |
Het |
| Vmn1r53 |
G |
A |
6: 90,223,760 (GRCm38) |
A194V |
probably benign |
Het |
| Wdr86 |
A |
T |
5: 24,718,087 (GRCm38) |
H202Q |
probably benign |
Het |
| Xirp2 |
A |
G |
2: 67,516,895 (GRCm38) |
D3160G |
probably benign |
Het |
| Xkr5 |
T |
C |
8: 18,933,966 (GRCm38) |
D520G |
probably benign |
Het |
|
| Other mutations in Zfp607b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02090:Zfp607b
|
APN |
7 |
27,698,715 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
IGL02114:Zfp607b
|
APN |
7 |
27,703,725 (GRCm38) |
missense |
probably benign |
0.19 |
|
IGL03171:Zfp607b
|
APN |
7 |
27,693,595 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
IGL03329:Zfp607b
|
APN |
7 |
27,703,870 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0988:Zfp607b
|
UTSW |
7 |
27,702,976 (GRCm38) |
missense |
probably benign |
0.34 |
|
R1518:Zfp607b
|
UTSW |
7 |
27,698,662 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R1672:Zfp607b
|
UTSW |
7 |
27,692,523 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R1733:Zfp607b
|
UTSW |
7 |
27,692,524 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R1992:Zfp607b
|
UTSW |
7 |
27,702,524 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R2849:Zfp607b
|
UTSW |
7 |
27,702,394 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3879:Zfp607b
|
UTSW |
7 |
27,704,051 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R4117:Zfp607b
|
UTSW |
7 |
27,698,682 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4439:Zfp607b
|
UTSW |
7 |
27,702,724 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4610:Zfp607b
|
UTSW |
7 |
27,703,695 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4755:Zfp607b
|
UTSW |
7 |
27,703,505 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4909:Zfp607b
|
UTSW |
7 |
27,703,796 (GRCm38) |
missense |
probably benign |
|
|
R5095:Zfp607b
|
UTSW |
7 |
27,693,636 (GRCm38) |
intron |
probably benign |
|
|
R5301:Zfp607b
|
UTSW |
7 |
27,703,747 (GRCm38) |
missense |
probably benign |
|
|
R5422:Zfp607b
|
UTSW |
7 |
27,702,388 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5538:Zfp607b
|
UTSW |
7 |
27,702,869 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5546:Zfp607b
|
UTSW |
7 |
27,702,607 (GRCm38) |
missense |
probably benign |
0.19 |
|
R5644:Zfp607b
|
UTSW |
7 |
27,703,769 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5692:Zfp607b
|
UTSW |
7 |
27,703,464 (GRCm38) |
missense |
probably benign |
0.17 |
|
R5945:Zfp607b
|
UTSW |
7 |
27,702,416 (GRCm38) |
missense |
probably benign |
0.06 |
|
R6695:Zfp607b
|
UTSW |
7 |
27,704,039 (GRCm38) |
missense |
probably benign |
0.04 |
|
R7402:Zfp607b
|
UTSW |
7 |
27,693,494 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7515:Zfp607b
|
UTSW |
7 |
27,703,496 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8402:Zfp607b
|
UTSW |
7 |
27,702,702 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8954:Zfp607b
|
UTSW |
7 |
27,703,962 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9494:Zfp607b
|
UTSW |
7 |
27,703,667 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9554:Zfp607b
|
UTSW |
7 |
27,703,039 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9727:Zfp607b
|
UTSW |
7 |
27,703,700 (GRCm38) |
missense |
probably benign |
|
|
Z1177:Zfp607b
|
UTSW |
7 |
27,702,394 (GRCm38) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGACCCTTTGAGTGTAAGGACTG -3'
(R):5'- AGGACTTTCCAGGTGGTTTC -3'
Sequencing Primer
(F):5'- ACTGTGGGAAGGCCTTCACTG -3'
(R):5'- GATGTACGTTAAGGTCTCCACCAC -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation