Incidental Mutation 'R3955:Zfp677'
| ID |
310669 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp677
|
| Ensembl Gene |
ENSMUSG00000062743 |
| Gene Name |
zinc finger protein 677 |
| Synonyms |
A830058L05Rik |
| MMRRC Submission |
040832-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R3955 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
21604010-21619527 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21618079 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 379
(K379E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125295
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056107]
[ENSMUST00000162659]
|
| AlphaFold |
Q6PEP4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000056107
AA Change: K379E
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000052667
Gene: ENSMUSG00000062743
AA Change: K379E
| 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 |
possibly damaging
Transcript: ENSMUST00000162659
AA Change: K379E
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000125295
Gene: ENSMUSG00000062743
AA Change: K379E
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232365
|
| Meta Mutation Damage Score |
0.3991 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
| Validation Efficiency |
100% (56/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
G |
3: 137,773,834 (GRCm39) |
T1008A |
probably benign |
Het |
| Abcc5 |
G |
C |
16: 20,224,293 (GRCm39) |
H97D |
probably damaging |
Het |
| Acbd7 |
T |
C |
2: 3,337,250 (GRCm39) |
S2P |
probably benign |
Het |
| Acta2 |
G |
T |
19: 34,229,126 (GRCm39) |
|
probably benign |
Het |
| Adam2 |
G |
A |
14: 66,295,059 (GRCm39) |
S262L |
probably damaging |
Het |
| Ajm1 |
G |
T |
2: 25,467,583 (GRCm39) |
S776* |
probably null |
Het |
| Ccnq |
C |
A |
11: 78,641,849 (GRCm39) |
E214* |
probably null |
Het |
| Cd69 |
A |
T |
6: 129,245,343 (GRCm39) |
|
probably null |
Het |
| Cpsf3 |
A |
G |
12: 21,363,806 (GRCm39) |
D632G |
probably benign |
Het |
| Dennd5a |
A |
G |
7: 109,504,906 (GRCm39) |
M868T |
probably benign |
Het |
| Dscc1 |
T |
C |
15: 54,946,949 (GRCm39) |
T259A |
probably benign |
Het |
| Dsg4 |
G |
A |
18: 20,582,432 (GRCm39) |
|
probably null |
Het |
| Igfn1 |
A |
G |
1: 135,894,918 (GRCm39) |
Y1883H |
possibly damaging |
Het |
| Insyn1 |
A |
T |
9: 58,406,906 (GRCm39) |
D272V |
probably damaging |
Het |
| Krt20 |
G |
A |
11: 99,323,037 (GRCm39) |
Q262* |
probably null |
Het |
| Lmf1 |
G |
A |
17: 25,873,445 (GRCm39) |
V317M |
probably damaging |
Het |
| Lmod2 |
G |
T |
6: 24,603,870 (GRCm39) |
V282L |
probably benign |
Het |
| Lrrc49 |
A |
G |
9: 60,578,642 (GRCm39) |
I228T |
probably damaging |
Het |
| Matn1 |
G |
A |
4: 130,678,726 (GRCm39) |
|
probably null |
Het |
| Nek7 |
C |
A |
1: 138,462,127 (GRCm39) |
C79F |
probably damaging |
Het |
| Nmt2 |
A |
G |
2: 3,313,535 (GRCm39) |
D132G |
probably benign |
Het |
| Nup210l |
A |
T |
3: 90,100,361 (GRCm39) |
R1462S |
possibly damaging |
Het |
| Obscn |
G |
A |
11: 58,927,594 (GRCm39) |
S6118F |
probably damaging |
Het |
| Or14j6 |
A |
T |
17: 38,214,500 (GRCm39) |
H21L |
probably benign |
Het |
| Or1j21 |
T |
A |
2: 36,683,565 (GRCm39) |
L106M |
probably benign |
Het |
| Or4c12 |
T |
A |
2: 89,774,172 (GRCm39) |
M96L |
possibly damaging |
Het |
| Or51f1 |
A |
G |
7: 102,505,824 (GRCm39) |
C222R |
probably damaging |
Het |
| Or5al1 |
A |
G |
2: 85,990,282 (GRCm39) |
V144A |
probably benign |
Het |
| Plxnb3 |
T |
C |
X: 72,814,826 (GRCm39) |
V1789A |
probably benign |
Het |
| Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
| Qrfprl |
A |
T |
6: 65,430,092 (GRCm39) |
I263L |
possibly damaging |
Het |
| Rab3gap1 |
A |
G |
1: 127,862,254 (GRCm39) |
Q675R |
probably damaging |
Het |
| Rasgrf2 |
A |
G |
13: 92,130,974 (GRCm39) |
S696P |
probably damaging |
Het |
| Sergef |
T |
A |
7: 46,268,176 (GRCm39) |
E210V |
possibly damaging |
Het |
| Sik3 |
C |
A |
9: 46,109,891 (GRCm39) |
N541K |
probably damaging |
Het |
| Slc26a1 |
T |
C |
5: 108,821,448 (GRCm39) |
D147G |
possibly damaging |
Het |
| Tbc1d14 |
G |
A |
5: 36,700,559 (GRCm39) |
R270* |
probably null |
Het |
| Tbc1d9 |
C |
T |
8: 83,960,161 (GRCm39) |
T138I |
probably damaging |
Het |
| Tdp2 |
C |
T |
13: 25,020,082 (GRCm39) |
T123I |
probably benign |
Het |
| Tec |
T |
C |
5: 72,939,520 (GRCm39) |
|
probably null |
Het |
| Tmf1 |
C |
A |
6: 97,153,167 (GRCm39) |
R302L |
probably damaging |
Het |
| Tnip3 |
A |
T |
6: 65,574,379 (GRCm39) |
T137S |
possibly damaging |
Het |
| Trim30d |
C |
T |
7: 104,121,728 (GRCm39) |
G339D |
probably damaging |
Het |
| Tspan32 |
T |
A |
7: 142,560,735 (GRCm39) |
M61K |
probably damaging |
Het |
| Ttc6 |
T |
C |
12: 57,744,238 (GRCm39) |
V1290A |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,799,593 (GRCm39) |
V429A |
possibly damaging |
Het |
| Unc13b |
A |
G |
4: 43,256,834 (GRCm39) |
Y3962C |
probably damaging |
Het |
| Vmn2r95 |
T |
A |
17: 18,660,358 (GRCm39) |
Y257N |
possibly damaging |
Het |
| Zfp865 |
T |
A |
7: 5,035,013 (GRCm39) |
D999E |
probably damaging |
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 |
|
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 |
|
R7801:Zfp677
|
UTSW |
17 |
21,618,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- AACCCTACACGTGCAATGTTTG -3'
(R):5'- ATTTATAAGGTTTCTCCCCAGTATGA -3'
Sequencing Primer
(F):5'- CCTACACGTGCAATGTTTGTGACAG -3'
(R):5'- CCACAAATGTTGCACTTGTAGGG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation