Incidental Mutation 'R0845:Zfp667'
| ID |
77318 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp667
|
| Ensembl Gene |
ENSMUSG00000054893 |
| Gene Name |
zinc finger protein 667 |
| Synonyms |
A830025F02Rik |
| MMRRC Submission |
039024-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R0845 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
6289578-6310882 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 6309091 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 586
(K586N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128658
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086327]
[ENSMUST00000108562]
[ENSMUST00000170776]
|
| AlphaFold |
Q2TL60 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000086327
AA Change: K586N
PolyPhen 2
Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000083507
Gene: ENSMUSG00000054893
AA Change: K586N
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
14 |
74 |
4.77e-30 |
SMART |
|
ZnF_C2H2
|
144 |
166 |
5.42e-2 |
SMART |
|
ZnF_C2H2
|
172 |
194 |
3.11e-2 |
SMART |
|
ZnF_C2H2
|
200 |
222 |
1.67e-2 |
SMART |
|
ZnF_C2H2
|
253 |
275 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
329 |
351 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
357 |
379 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
385 |
407 |
8.94e-3 |
SMART |
|
ZnF_C2H2
|
414 |
436 |
5.06e-2 |
SMART |
|
ZnF_C2H2
|
442 |
464 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
470 |
492 |
5.29e-5 |
SMART |
|
ZnF_C2H2
|
498 |
520 |
7.37e-4 |
SMART |
|
ZnF_C2H2
|
526 |
548 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
554 |
576 |
1.13e-4 |
SMART |
|
ZnF_C2H2
|
582 |
604 |
1.38e-3 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108562
AA Change: K586N
PolyPhen 2
Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000104202
Gene: ENSMUSG00000054893
AA Change: K586N
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
14 |
74 |
4.77e-30 |
SMART |
|
ZnF_C2H2
|
144 |
166 |
5.42e-2 |
SMART |
|
ZnF_C2H2
|
172 |
194 |
3.11e-2 |
SMART |
|
ZnF_C2H2
|
200 |
222 |
1.67e-2 |
SMART |
|
ZnF_C2H2
|
253 |
275 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
329 |
351 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
357 |
379 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
385 |
407 |
8.94e-3 |
SMART |
|
ZnF_C2H2
|
414 |
436 |
5.06e-2 |
SMART |
|
ZnF_C2H2
|
442 |
464 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
470 |
492 |
5.29e-5 |
SMART |
|
ZnF_C2H2
|
498 |
520 |
7.37e-4 |
SMART |
|
ZnF_C2H2
|
526 |
548 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
554 |
576 |
1.13e-4 |
SMART |
|
ZnF_C2H2
|
582 |
604 |
1.38e-3 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170776
AA Change: K586N
PolyPhen 2
Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000128658
Gene: ENSMUSG00000054893
AA Change: K586N
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
14 |
74 |
4.77e-30 |
SMART |
|
ZnF_C2H2
|
144 |
166 |
5.42e-2 |
SMART |
|
ZnF_C2H2
|
172 |
194 |
3.11e-2 |
SMART |
|
ZnF_C2H2
|
200 |
222 |
1.67e-2 |
SMART |
|
ZnF_C2H2
|
253 |
275 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
329 |
351 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
357 |
379 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
385 |
407 |
8.94e-3 |
SMART |
|
ZnF_C2H2
|
414 |
436 |
5.06e-2 |
SMART |
|
ZnF_C2H2
|
442 |
464 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
470 |
492 |
5.29e-5 |
SMART |
|
ZnF_C2H2
|
498 |
520 |
7.37e-4 |
SMART |
|
ZnF_C2H2
|
526 |
548 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
554 |
576 |
1.13e-4 |
SMART |
|
ZnF_C2H2
|
582 |
604 |
1.38e-3 |
SMART |
|
| Meta Mutation Damage Score |
0.1014 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 93.2%
|
| Validation Efficiency |
96% (45/47) |
| Allele List at MGI |
All alleles(4) : Targeted, other(2) Gene trapped(2)
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn4 |
G |
T |
7: 28,612,855 (GRCm39) |
A116E |
probably damaging |
Het |
| Adamtsl3 |
A |
G |
7: 82,225,204 (GRCm39) |
I338V |
probably damaging |
Het |
| Akap13 |
T |
G |
7: 75,375,128 (GRCm39) |
V1920G |
probably damaging |
Het |
| Atp6v0d2 |
C |
T |
4: 19,880,055 (GRCm39) |
V281I |
probably benign |
Het |
| AW209491 |
T |
G |
13: 14,811,607 (GRCm39) |
S153R |
probably damaging |
Het |
| Brd7 |
A |
T |
8: 89,069,395 (GRCm39) |
Y433* |
probably null |
Het |
| Bub1b |
A |
G |
2: 118,440,457 (GRCm39) |
H187R |
probably damaging |
Het |
| Clstn2 |
T |
A |
9: 97,452,681 (GRCm39) |
Q242L |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Comt |
T |
C |
16: 18,226,711 (GRCm39) |
Y225C |
probably damaging |
Het |
| Ctbs |
T |
A |
3: 146,160,862 (GRCm39) |
L143Q |
probably damaging |
Het |
| Ctsw |
T |
C |
19: 5,515,489 (GRCm39) |
|
probably benign |
Het |
| Dhx16 |
T |
C |
17: 36,194,194 (GRCm39) |
I435T |
probably damaging |
Het |
| Dmxl1 |
T |
C |
18: 50,026,469 (GRCm39) |
F1859S |
probably damaging |
Het |
| Glud1 |
A |
G |
14: 34,051,351 (GRCm39) |
|
probably benign |
Het |
| Gm8220 |
A |
G |
14: 44,524,248 (GRCm39) |
H71R |
probably damaging |
Het |
| Gnb1l |
A |
G |
16: 18,371,223 (GRCm39) |
E238G |
probably benign |
Het |
| H2-T23 |
T |
C |
17: 36,341,475 (GRCm39) |
H332R |
probably benign |
Het |
| Itga5 |
T |
A |
15: 103,259,196 (GRCm39) |
T744S |
probably benign |
Het |
| Larp1 |
A |
G |
11: 57,938,576 (GRCm39) |
E453G |
probably benign |
Het |
| Lrrk2 |
C |
A |
15: 91,640,165 (GRCm39) |
P1570Q |
probably benign |
Het |
| Lrsam1 |
C |
T |
2: 32,843,455 (GRCm39) |
R150Q |
possibly damaging |
Het |
| Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
| Msln |
T |
C |
17: 25,969,770 (GRCm39) |
Y320C |
probably damaging |
Het |
| Mtbp |
T |
C |
15: 55,426,486 (GRCm39) |
|
probably null |
Het |
| Muc5b |
A |
G |
7: 141,404,183 (GRCm39) |
|
probably null |
Het |
| Mup21 |
A |
G |
4: 62,068,547 (GRCm39) |
S40P |
probably damaging |
Het |
| Myh8 |
T |
C |
11: 67,177,090 (GRCm39) |
V414A |
probably damaging |
Het |
| P2rx5 |
T |
C |
11: 73,056,400 (GRCm39) |
I108T |
probably damaging |
Het |
| Paqr9 |
T |
C |
9: 95,442,793 (GRCm39) |
L261P |
probably damaging |
Het |
| Pde5a |
A |
G |
3: 122,522,980 (GRCm39) |
D29G |
probably benign |
Het |
| Phf11d |
A |
T |
14: 59,590,793 (GRCm39) |
M188K |
possibly damaging |
Het |
| Pih1d1 |
A |
G |
7: 44,809,106 (GRCm39) |
D230G |
probably benign |
Het |
| Pik3r1 |
G |
T |
13: 101,822,772 (GRCm39) |
D643E |
probably benign |
Het |
| Rnf207 |
A |
G |
4: 152,396,521 (GRCm39) |
|
probably benign |
Het |
| Septin9 |
T |
C |
11: 117,247,151 (GRCm39) |
|
probably benign |
Het |
| Serinc1 |
A |
T |
10: 57,401,479 (GRCm39) |
S105T |
probably benign |
Het |
| Slc8a1 |
A |
G |
17: 81,745,177 (GRCm39) |
S676P |
probably benign |
Het |
| Srrm4 |
C |
T |
5: 116,582,944 (GRCm39) |
|
probably null |
Het |
| Tcn2 |
T |
A |
11: 3,869,349 (GRCm39) |
D391V |
probably benign |
Het |
| Tmem131 |
T |
C |
1: 36,855,303 (GRCm39) |
T808A |
probably damaging |
Het |
| Ubqln3 |
G |
T |
7: 103,791,275 (GRCm39) |
Q272K |
probably damaging |
Het |
| Unc79 |
T |
C |
12: 103,139,703 (GRCm39) |
|
probably benign |
Het |
| Xpo6 |
G |
A |
7: 125,728,715 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Zfp667 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00821:Zfp667
|
APN |
7 |
6,308,396 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL01325:Zfp667
|
APN |
7 |
6,293,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01386:Zfp667
|
APN |
7 |
6,307,869 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01960:Zfp667
|
APN |
7 |
6,308,336 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03394:Zfp667
|
APN |
7 |
6,292,438 (GRCm39) |
critical splice donor site |
probably null |
|
|
B5639:Zfp667
|
UTSW |
7 |
6,293,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0458:Zfp667
|
UTSW |
7 |
6,307,844 (GRCm39) |
missense |
probably benign |
0.40 |
|
R1768:Zfp667
|
UTSW |
7 |
6,308,066 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1953:Zfp667
|
UTSW |
7 |
6,308,087 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2023:Zfp667
|
UTSW |
7 |
6,308,416 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R3159:Zfp667
|
UTSW |
7 |
6,308,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4080:Zfp667
|
UTSW |
7 |
6,308,105 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4476:Zfp667
|
UTSW |
7 |
6,307,598 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4584:Zfp667
|
UTSW |
7 |
6,293,624 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4783:Zfp667
|
UTSW |
7 |
6,308,684 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5037:Zfp667
|
UTSW |
7 |
6,308,949 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5300:Zfp667
|
UTSW |
7 |
6,307,635 (GRCm39) |
missense |
probably benign |
|
|
R5311:Zfp667
|
UTSW |
7 |
6,308,715 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5312:Zfp667
|
UTSW |
7 |
6,308,466 (GRCm39) |
missense |
probably benign |
|
|
R5340:Zfp667
|
UTSW |
7 |
6,308,252 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6262:Zfp667
|
UTSW |
7 |
6,307,973 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7386:Zfp667
|
UTSW |
7 |
6,308,949 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8383:Zfp667
|
UTSW |
7 |
6,308,370 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8919:Zfp667
|
UTSW |
7 |
6,308,256 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9099:Zfp667
|
UTSW |
7 |
6,308,322 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9422:Zfp667
|
UTSW |
7 |
6,308,321 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Zfp667
|
UTSW |
7 |
6,307,856 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCGGGAAGTCCTTTAGTAGGATCTCA -3'
(R):5'- tcataaggtcaagaacacttACGCTCAC -3'
Sequencing Primer
(F):5'- cagtgtgaagaatgtgggaaag -3'
(R):5'- aagaacacttACGCTCACTTCCC -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation