Incidental Mutation 'R7801:Zfp677'
| ID |
600550 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp677
|
| Ensembl Gene |
ENSMUSG00000062743 |
| Gene Name |
zinc finger protein 677 |
| Synonyms |
A830058L05Rik |
| MMRRC Submission |
045856-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
R7801 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
21604010-21619527 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 21618277 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 445
(S445T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052667
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056107]
[ENSMUST00000162659]
|
| AlphaFold |
Q6PEP4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000056107
AA Change: S445T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000052667
Gene: ENSMUSG00000062743
AA Change: S445T
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
13 |
75 |
1.11e-21 |
SMART |
|
ZnF_C2H2
|
185 |
207 |
2.95e-3 |
SMART |
|
ZnF_C2H2
|
213 |
235 |
3.95e-4 |
SMART |
|
ZnF_C2H2
|
241 |
263 |
2.09e-3 |
SMART |
|
ZnF_C2H2
|
269 |
291 |
6.42e-4 |
SMART |
|
ZnF_C2H2
|
297 |
319 |
5.5e-3 |
SMART |
|
ZnF_C2H2
|
325 |
347 |
1.98e-4 |
SMART |
|
ZnF_C2H2
|
353 |
375 |
1.98e-4 |
SMART |
|
ZnF_C2H2
|
381 |
403 |
1.47e-3 |
SMART |
|
ZnF_C2H2
|
409 |
431 |
1.28e-3 |
SMART |
|
ZnF_C2H2
|
437 |
459 |
3.95e-4 |
SMART |
|
ZnF_C2H2
|
465 |
487 |
1.04e-3 |
SMART |
|
ZnF_C2H2
|
493 |
515 |
8.47e-4 |
SMART |
|
ZnF_C2H2
|
521 |
543 |
7.49e-5 |
SMART |
|
ZnF_C2H2
|
549 |
571 |
1.18e-2 |
SMART |
|
ZnF_C2H2
|
577 |
599 |
6.08e-5 |
SMART |
|
ZnF_C2H2
|
610 |
632 |
4.17e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162659
AA Change: S445T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000125295
Gene: ENSMUSG00000062743
AA Change: S445T
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
13 |
75 |
1.11e-21 |
SMART |
|
Pfam:zf-H2C2_2
|
118 |
140 |
2.9e-5 |
PFAM |
|
ZnF_C2H2
|
185 |
207 |
2.95e-3 |
SMART |
|
ZnF_C2H2
|
213 |
235 |
3.95e-4 |
SMART |
|
ZnF_C2H2
|
241 |
263 |
2.09e-3 |
SMART |
|
ZnF_C2H2
|
269 |
291 |
6.42e-4 |
SMART |
|
ZnF_C2H2
|
297 |
319 |
5.5e-3 |
SMART |
|
ZnF_C2H2
|
325 |
347 |
1.98e-4 |
SMART |
|
ZnF_C2H2
|
353 |
375 |
1.98e-4 |
SMART |
|
ZnF_C2H2
|
381 |
403 |
1.47e-3 |
SMART |
|
ZnF_C2H2
|
409 |
431 |
1.28e-3 |
SMART |
|
ZnF_C2H2
|
437 |
459 |
3.95e-4 |
SMART |
|
ZnF_C2H2
|
465 |
487 |
1.04e-3 |
SMART |
|
ZnF_C2H2
|
493 |
515 |
8.47e-4 |
SMART |
|
ZnF_C2H2
|
521 |
543 |
7.49e-5 |
SMART |
|
ZnF_C2H2
|
549 |
571 |
1.18e-2 |
SMART |
|
ZnF_C2H2
|
577 |
599 |
6.08e-5 |
SMART |
|
ZnF_C2H2
|
610 |
632 |
4.17e-3 |
SMART |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (47/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agap1 |
A |
G |
1: 89,558,207 (GRCm39) |
Y165C |
probably damaging |
Het |
| Agbl3 |
A |
T |
6: 34,816,300 (GRCm39) |
T742S |
probably benign |
Het |
| Arhgef10l |
T |
C |
4: 140,271,578 (GRCm39) |
T651A |
probably benign |
Het |
| Arsb |
T |
A |
13: 93,998,835 (GRCm39) |
I381N |
probably damaging |
Het |
| Blzf1 |
A |
G |
1: 164,123,478 (GRCm39) |
V283A |
probably benign |
Het |
| Cadps |
C |
T |
14: 12,489,476 (GRCm38) |
|
probably null |
Het |
| Casz1 |
A |
T |
4: 149,022,706 (GRCm39) |
T591S |
probably damaging |
Het |
| Ccne2 |
T |
C |
4: 11,194,079 (GRCm39) |
|
probably null |
Het |
| Chst9 |
T |
C |
18: 15,585,334 (GRCm39) |
T410A |
probably benign |
Het |
| Ciart |
G |
A |
3: 95,788,656 (GRCm39) |
P61L |
probably damaging |
Het |
| Fam234a |
T |
C |
17: 26,437,172 (GRCm39) |
D169G |
probably benign |
Het |
| Fat1 |
C |
T |
8: 45,495,260 (GRCm39) |
P4116L |
probably damaging |
Het |
| Fbxo21 |
G |
T |
5: 118,124,189 (GRCm39) |
A166S |
probably damaging |
Het |
| Gbf1 |
A |
G |
19: 46,261,082 (GRCm39) |
I1216V |
probably benign |
Het |
| Gper1 |
G |
A |
5: 139,412,443 (GRCm39) |
A263T |
probably benign |
Het |
| Hdlbp |
G |
T |
1: 93,358,029 (GRCm39) |
|
probably null |
Het |
| Ighg3 |
A |
T |
12: 113,323,436 (GRCm39) |
L280Q |
|
Het |
| Impa1 |
T |
C |
3: 10,386,727 (GRCm39) |
T171A |
probably benign |
Het |
| Ints7 |
T |
A |
1: 191,347,859 (GRCm39) |
Y744N |
possibly damaging |
Het |
| Irgc |
G |
T |
7: 24,131,959 (GRCm39) |
A286D |
probably damaging |
Het |
| Kif18a |
T |
C |
2: 109,118,190 (GRCm39) |
S2P |
probably damaging |
Het |
| Macf1 |
A |
T |
4: 123,302,064 (GRCm39) |
W813R |
probably damaging |
Het |
| Mapkbp1 |
T |
G |
2: 119,842,554 (GRCm39) |
H157Q |
probably damaging |
Het |
| Mfsd4b2 |
T |
A |
10: 39,799,777 (GRCm39) |
M42L |
probably benign |
Het |
| Mon2 |
A |
G |
10: 122,895,091 (GRCm39) |
|
probably null |
Het |
| Myrfl |
T |
A |
10: 116,684,240 (GRCm39) |
H161L |
probably benign |
Het |
| Or2aj6 |
T |
C |
16: 19,443,373 (GRCm39) |
H159R |
probably damaging |
Het |
| Or7g19 |
A |
C |
9: 18,856,555 (GRCm39) |
S204R |
probably damaging |
Het |
| Phlpp2 |
T |
G |
8: 110,652,474 (GRCm39) |
V606G |
possibly damaging |
Het |
| Psmb5 |
T |
C |
14: 54,854,212 (GRCm39) |
T89A |
probably benign |
Het |
| Ptpn9 |
A |
G |
9: 56,968,297 (GRCm39) |
T546A |
probably benign |
Het |
| Qrfprl |
T |
A |
6: 65,418,201 (GRCm39) |
V123D |
probably damaging |
Het |
| Rabep2 |
A |
G |
7: 126,037,584 (GRCm39) |
M146V |
possibly damaging |
Het |
| Rptn |
G |
A |
3: 93,305,531 (GRCm39) |
E955K |
possibly damaging |
Het |
| Samd3 |
G |
T |
10: 26,139,770 (GRCm39) |
V301F |
possibly damaging |
Het |
| Sh2b1 |
C |
A |
7: 126,070,464 (GRCm39) |
C380F |
probably benign |
Het |
| Shank1 |
A |
G |
7: 44,001,022 (GRCm39) |
M914V |
unknown |
Het |
| Sox2 |
G |
A |
3: 34,704,791 (GRCm39) |
R76H |
probably damaging |
Het |
| Stat5a |
T |
C |
11: 100,771,143 (GRCm39) |
F574S |
probably damaging |
Het |
| Tbx5 |
A |
G |
5: 119,975,064 (GRCm39) |
E29G |
probably benign |
Het |
| Trpm5 |
A |
C |
7: 142,638,978 (GRCm39) |
D264E |
probably damaging |
Het |
| Zfp442 |
T |
C |
2: 150,251,639 (GRCm39) |
S88G |
probably benign |
Het |
| Zfp62 |
T |
A |
11: 49,108,155 (GRCm39) |
F749I |
possibly damaging |
Het |
| Zfp979 |
A |
C |
4: 147,698,435 (GRCm39) |
N91K |
probably damaging |
Het |
| Zfyve9 |
A |
G |
4: 108,542,192 (GRCm39) |
V209A |
possibly damaging |
Het |
| Zic4 |
G |
T |
9: 91,266,297 (GRCm39) |
A314S |
probably benign |
Het |
|
| Other mutations in Zfp677 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00481:Zfp677
|
APN |
17 |
21,617,930 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL01973:Zfp677
|
APN |
17 |
21,617,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02206:Zfp677
|
APN |
17 |
21,613,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03240:Zfp677
|
APN |
17 |
21,617,135 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03409:Zfp677
|
APN |
17 |
21,617,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0622:Zfp677
|
UTSW |
17 |
21,617,962 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0972:Zfp677
|
UTSW |
17 |
21,618,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1519:Zfp677
|
UTSW |
17 |
21,617,499 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2155:Zfp677
|
UTSW |
17 |
21,617,970 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2316:Zfp677
|
UTSW |
17 |
21,617,582 (GRCm39) |
missense |
probably benign |
0.38 |
|
R2866:Zfp677
|
UTSW |
17 |
21,617,518 (GRCm39) |
nonsense |
probably null |
|
|
R2989:Zfp677
|
UTSW |
17 |
21,617,114 (GRCm39) |
missense |
probably benign |
0.11 |
|
R3955:Zfp677
|
UTSW |
17 |
21,618,079 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4075:Zfp677
|
UTSW |
17 |
21,618,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4134:Zfp677
|
UTSW |
17 |
21,618,043 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4229:Zfp677
|
UTSW |
17 |
21,618,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4729:Zfp677
|
UTSW |
17 |
21,617,680 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R4843:Zfp677
|
UTSW |
17 |
21,612,788 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5023:Zfp677
|
UTSW |
17 |
21,618,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5316:Zfp677
|
UTSW |
17 |
21,617,410 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5420:Zfp677
|
UTSW |
17 |
21,618,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5694:Zfp677
|
UTSW |
17 |
21,618,021 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5837:Zfp677
|
UTSW |
17 |
21,617,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5888:Zfp677
|
UTSW |
17 |
21,618,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6007:Zfp677
|
UTSW |
17 |
21,617,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6119:Zfp677
|
UTSW |
17 |
21,618,070 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R6190:Zfp677
|
UTSW |
17 |
21,617,530 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6518:Zfp677
|
UTSW |
17 |
21,618,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7198:Zfp677
|
UTSW |
17 |
21,618,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7391:Zfp677
|
UTSW |
17 |
21,618,653 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7808:Zfp677
|
UTSW |
17 |
21,617,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8202:Zfp677
|
UTSW |
17 |
21,613,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8206:Zfp677
|
UTSW |
17 |
21,612,717 (GRCm39) |
splice site |
probably null |
|
|
R8885:Zfp677
|
UTSW |
17 |
21,618,350 (GRCm39) |
missense |
probably benign |
|
|
R8965:Zfp677
|
UTSW |
17 |
21,617,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9062:Zfp677
|
UTSW |
17 |
21,612,815 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9167:Zfp677
|
UTSW |
17 |
21,613,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9371:Zfp677
|
UTSW |
17 |
21,618,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9638:Zfp677
|
UTSW |
17 |
21,618,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9752:Zfp677
|
UTSW |
17 |
21,618,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF003:Zfp677
|
UTSW |
17 |
21,617,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCATTTACTCAGTCCTCATCCC -3'
(R):5'- TCAGTAAAGGATTTGTCACATTCC -3'
Sequencing Primer
(F):5'- CCCTATAAGTGCAACATTTGTGG -3'
(R):5'- CCACTATGCAAATTCTGATGGC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation