Incidental Mutation 'R0988:Zfp607b'
| ID |
97377 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp607b
|
| Ensembl Gene |
ENSMUSG00000057093 |
| Gene Name |
zinc finger protein 607B |
| Synonyms |
C030039L03Rik |
| MMRRC Submission |
039108-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R0988 (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 27402401 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 286
(C286S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112494
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076421]
[ENSMUST00000120004]
|
| AlphaFold |
G3X9H3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076421
AA Change: C286S
PolyPhen 2
Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000075755
Gene: ENSMUSG00000057093
AA Change: C286S
| 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 benign
Transcript: ENSMUST00000120004
AA Change: C286S
PolyPhen 2
Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000112494
Gene: ENSMUSG00000057093
AA Change: C286S
| 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 |
0.7504 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 94.0%
|
| Validation Efficiency |
97% (34/35) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
T |
C |
12: 118,896,310 (GRCm39) |
I340V |
probably benign |
Het |
| Ano1 |
T |
G |
7: 144,187,390 (GRCm39) |
S459R |
possibly damaging |
Het |
| Cop1 |
T |
C |
1: 159,060,417 (GRCm39) |
V67A |
possibly damaging |
Het |
| Cop1 |
A |
G |
1: 159,072,242 (GRCm39) |
Y186C |
probably damaging |
Het |
| Cst11 |
G |
A |
2: 148,612,346 (GRCm39) |
T97I |
probably benign |
Het |
| Ephb2 |
T |
A |
4: 136,387,019 (GRCm39) |
Y736F |
possibly damaging |
Het |
| Extl1 |
TGCGTTGCACCGATACCGGG |
TG |
4: 134,084,988 (GRCm39) |
|
probably benign |
Het |
| Hmcn2 |
T |
C |
2: 31,225,463 (GRCm39) |
I124T |
probably damaging |
Het |
| Hpn |
T |
C |
7: 30,799,323 (GRCm39) |
Y271C |
possibly damaging |
Het |
| Kmt2a |
A |
G |
9: 44,759,846 (GRCm39) |
S668P |
probably benign |
Het |
| Krtap4-9 |
T |
A |
11: 99,676,362 (GRCm39) |
C94* |
probably null |
Het |
| Lgmn |
T |
C |
12: 102,364,536 (GRCm39) |
D311G |
probably damaging |
Het |
| Macroh2a1 |
T |
C |
13: 56,231,109 (GRCm39) |
|
probably null |
Het |
| Mfsd14b |
T |
C |
13: 65,260,307 (GRCm39) |
|
probably benign |
Het |
| Micu1 |
C |
A |
10: 59,592,549 (GRCm39) |
|
probably benign |
Het |
| Muc5b |
A |
G |
7: 141,425,532 (GRCm39) |
I4726V |
probably benign |
Het |
| Nadk2 |
T |
A |
15: 9,103,080 (GRCm39) |
N310K |
probably damaging |
Het |
| Napg |
T |
C |
18: 63,116,431 (GRCm39) |
|
probably benign |
Het |
| Nav3 |
G |
A |
10: 109,552,389 (GRCm39) |
R1818W |
probably damaging |
Het |
| Ntpcr |
T |
C |
8: 126,464,170 (GRCm39) |
|
probably benign |
Het |
| Or1j13 |
T |
C |
2: 36,369,779 (GRCm39) |
D121G |
probably damaging |
Het |
| Or51af1 |
T |
A |
7: 103,141,954 (GRCm39) |
I44F |
probably damaging |
Het |
| Or5b99 |
A |
G |
19: 12,977,151 (GRCm39) |
D267G |
probably benign |
Het |
| Or6c214 |
A |
G |
10: 129,590,866 (GRCm39) |
V151A |
probably benign |
Het |
| Pdia2 |
A |
G |
17: 26,417,803 (GRCm39) |
F69L |
probably damaging |
Het |
| Pik3r4 |
A |
G |
9: 105,564,404 (GRCm39) |
T1333A |
probably damaging |
Het |
| Platr26 |
A |
T |
2: 71,553,631 (GRCm39) |
|
noncoding transcript |
Het |
| Proc |
T |
C |
18: 32,266,536 (GRCm39) |
D97G |
probably benign |
Het |
| Ptpn23 |
C |
T |
9: 110,217,845 (GRCm39) |
R700H |
probably benign |
Het |
| Rragc |
T |
A |
4: 123,818,575 (GRCm39) |
|
probably null |
Het |
| Serac1 |
A |
T |
17: 6,111,855 (GRCm39) |
F244I |
probably benign |
Het |
| Snrpd3 |
A |
G |
10: 75,368,039 (GRCm39) |
D52G |
probably damaging |
Het |
| Thrb |
G |
T |
14: 17,981,837 (GRCm38) |
|
probably benign |
Het |
| Ttc6 |
T |
C |
12: 57,735,435 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
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'- ACGTGCTTCGATTGTAGTTCAGCTC -3'
(R):5'- CTCTCCAGTGTGAATGCTCTGGTG -3'
Sequencing Primer
(F):5'- tgaatgtaaggagtgtgggaag -3'
(R):5'- TGCTGAGCGAGCTGTGC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation