Incidental Mutation 'R9638:Zfp677'
| ID |
725847 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp677
|
| Ensembl Gene |
ENSMUSG00000062743 |
| Gene Name |
zinc finger protein 677 |
| Synonyms |
A830058L05Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
R9638 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
21604010-21619527 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 21618056 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 371
(H371L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125295
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056107]
[ENSMUST00000162659]
|
| AlphaFold |
Q6PEP4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000056107
AA Change: H371L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000052667
Gene: ENSMUSG00000062743
AA Change: H371L
| 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: H371L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000125295
Gene: ENSMUSG00000062743
AA Change: H371L
| 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 |
0.5923 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
T |
G |
4: 53,092,806 (GRCm39) |
E326A |
probably damaging |
Het |
| Aldh1a1 |
T |
A |
19: 20,614,100 (GRCm39) |
N423K |
probably benign |
Het |
| Aldh4a1 |
T |
A |
4: 139,371,427 (GRCm39) |
I447N |
probably damaging |
Het |
| Atg9b |
T |
C |
5: 24,596,406 (GRCm39) |
D170G |
possibly damaging |
Het |
| Bnc2 |
C |
T |
4: 84,332,492 (GRCm39) |
V75M |
probably damaging |
Het |
| Bnip3l |
G |
A |
14: 67,246,214 (GRCm39) |
P7L |
possibly damaging |
Het |
| Ccdc162 |
C |
A |
10: 41,437,159 (GRCm39) |
C1750F |
probably benign |
Het |
| Cdh10 |
T |
A |
15: 18,964,301 (GRCm39) |
N154K |
probably damaging |
Het |
| Cdh22 |
T |
C |
2: 164,988,687 (GRCm39) |
I223V |
probably damaging |
Het |
| Ces1b |
T |
A |
8: 93,806,534 (GRCm39) |
H4L |
probably benign |
Het |
| Cfap46 |
A |
T |
7: 139,209,763 (GRCm39) |
F1806I |
unknown |
Het |
| Cwh43 |
T |
A |
5: 73,565,486 (GRCm39) |
V17D |
possibly damaging |
Het |
| Ddx3y |
C |
T |
Y: 1,263,599 (GRCm39) |
G623D |
probably benign |
Het |
| Dtna |
A |
T |
18: 23,744,122 (GRCm39) |
I389L |
probably benign |
Het |
| F830016B08Rik |
A |
G |
18: 60,432,956 (GRCm39) |
D13G |
probably benign |
Het |
| Fam161b |
T |
C |
12: 84,403,187 (GRCm39) |
I148V |
probably benign |
Het |
| Fhip1a |
T |
A |
3: 85,568,391 (GRCm39) |
N1043Y |
probably damaging |
Het |
| Fli1 |
T |
C |
9: 32,388,020 (GRCm39) |
Y23C |
probably damaging |
Het |
| Gimap6 |
A |
G |
6: 48,679,424 (GRCm39) |
V204A |
probably benign |
Het |
| Ighv4-1 |
T |
G |
12: 113,911,904 (GRCm39) |
R116S |
probably damaging |
Het |
| Isx |
T |
C |
8: 75,619,566 (GRCm39) |
L239P |
probably damaging |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
| Krt81 |
T |
C |
15: 101,358,856 (GRCm39) |
T299A |
probably benign |
Het |
| Lrrc30 |
A |
G |
17: 67,939,226 (GRCm39) |
L118P |
probably damaging |
Het |
| Mapk8ip3 |
T |
C |
17: 25,118,023 (GRCm39) |
T1290A |
probably benign |
Het |
| Mef2b |
ACCCTCACCC |
ACC |
8: 70,619,506 (GRCm39) |
|
probably null |
Het |
| Meltf |
G |
A |
16: 31,706,409 (GRCm39) |
E298K |
possibly damaging |
Het |
| Muc16 |
T |
A |
9: 18,550,626 (GRCm39) |
E5222D |
probably benign |
Het |
| Nin |
T |
C |
12: 70,067,618 (GRCm39) |
N2003S |
|
Het |
| Or1e23 |
A |
G |
11: 73,407,875 (GRCm39) |
I50T |
probably benign |
Het |
| Or2b4 |
G |
A |
17: 38,116,509 (GRCm39) |
V158M |
probably damaging |
Het |
| Or51f1d |
T |
C |
7: 102,701,018 (GRCm39) |
L171P |
probably damaging |
Het |
| Palld |
A |
G |
8: 62,002,788 (GRCm39) |
V826A |
unknown |
Het |
| Paxbp1 |
C |
A |
16: 90,831,881 (GRCm39) |
V336L |
probably benign |
Het |
| Paxbp1 |
T |
A |
16: 90,831,882 (GRCm39) |
E335D |
probably benign |
Het |
| Por |
C |
A |
5: 135,754,615 (GRCm39) |
Q12K |
unknown |
Het |
| Pot1a |
G |
A |
6: 25,750,106 (GRCm39) |
Q519* |
probably null |
Het |
| Psd |
GCC |
GC |
19: 46,301,841 (GRCm39) |
|
probably null |
Het |
| Ptger4 |
A |
G |
15: 5,264,693 (GRCm39) |
F321S |
probably damaging |
Het |
| Ptk7 |
A |
G |
17: 46,890,519 (GRCm39) |
Y438H |
possibly damaging |
Het |
| Rimklb |
A |
T |
6: 122,433,558 (GRCm39) |
N254K |
probably benign |
Het |
| Rpn2 |
A |
T |
2: 157,125,566 (GRCm39) |
T26S |
probably benign |
Het |
| Rtn4rl2 |
A |
T |
2: 84,710,760 (GRCm39) |
L168H |
probably damaging |
Het |
| Scel |
G |
T |
14: 103,779,409 (GRCm39) |
A127S |
possibly damaging |
Het |
| Sema4a |
T |
A |
3: 88,357,066 (GRCm39) |
N302Y |
probably damaging |
Het |
| Supt3 |
A |
G |
17: 45,234,133 (GRCm39) |
T50A |
possibly damaging |
Het |
| Upf3a |
G |
A |
8: 13,848,343 (GRCm39) |
A380T |
probably benign |
Het |
| Zbtb14 |
G |
A |
17: 69,695,375 (GRCm39) |
E358K |
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 |
|
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 |
|
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 |
|
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'- TGGAGAGAAACCCTACACGT -3'
(R):5'- GGTTTCTCCCCAGTATGAAGTCTT -3'
Sequencing Primer
(F):5'- CCTACACGTGCAATGTTTGTGACAG -3'
(R):5'- CCACAAATGTTGCACTTGTAGGG -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation