Incidental Mutation 'R5656:Zfp644'
| ID |
442310 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp644
|
| Ensembl Gene |
ENSMUSG00000049606 |
| Gene Name |
zinc finger protein 644 |
| Synonyms |
D5Ertd689e, 1110068L01Rik, Zep-2, BM-005 |
| MMRRC Submission |
043302-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.177)
|
| Stock # |
R5656 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
106616739-106697287 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 106637982 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 233
(V233A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108318
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045466]
[ENSMUST00000112695]
[ENSMUST00000112696]
[ENSMUST00000112698]
[ENSMUST00000122980]
[ENSMUST00000124263]
[ENSMUST00000127434]
[ENSMUST00000135108]
[ENSMUST00000137285]
[ENSMUST00000155495]
|
| AlphaFold |
E9QA22 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045466
AA Change: V233A
PolyPhen 2
Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000038047
Gene: ENSMUSG00000049606
AA Change: V233A
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
411 |
433 |
1.89e-1 |
SMART |
|
ZnF_C2H2
|
449 |
471 |
6.52e-5 |
SMART |
|
ZnF_C2H2
|
497 |
519 |
1.99e0 |
SMART |
|
ZnF_C2H2
|
526 |
549 |
6.4e0 |
SMART |
|
ZnF_C2H2
|
587 |
610 |
3.72e0 |
SMART |
|
low complexity region
|
668 |
676 |
N/A |
INTRINSIC |
|
low complexity region
|
771 |
788 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
928 |
950 |
1.07e0 |
SMART |
|
ZnF_C2H2
|
1003 |
1025 |
1.43e-1 |
SMART |
|
low complexity region
|
1199 |
1212 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
1226 |
1252 |
5.4e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112695
|
| SMART Domains |
Protein: ENSMUSP00000108315
Gene: ENSMUSG00000049606
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
25 |
N/A |
INTRINSIC |
|
Blast:ZnF_C2H2
|
39 |
65 |
2e-14 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112696
AA Change: V233A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000108316
Gene: ENSMUSG00000049606
AA Change: V233A
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
411 |
433 |
1.89e-1 |
SMART |
|
ZnF_C2H2
|
449 |
471 |
6.52e-5 |
SMART |
|
ZnF_C2H2
|
497 |
519 |
1.99e0 |
SMART |
|
ZnF_C2H2
|
526 |
549 |
6.4e0 |
SMART |
|
ZnF_C2H2
|
587 |
610 |
3.72e0 |
SMART |
|
low complexity region
|
668 |
676 |
N/A |
INTRINSIC |
|
low complexity region
|
767 |
783 |
N/A |
INTRINSIC |
|
low complexity region
|
802 |
819 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
959 |
981 |
1.07e0 |
SMART |
|
ZnF_C2H2
|
1034 |
1056 |
1.43e-1 |
SMART |
|
low complexity region
|
1230 |
1243 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
1257 |
1283 |
5.4e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112698
AA Change: V233A
PolyPhen 2
Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000108318
Gene: ENSMUSG00000049606
AA Change: V233A
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
411 |
433 |
1.89e-1 |
SMART |
|
ZnF_C2H2
|
449 |
471 |
6.52e-5 |
SMART |
|
ZnF_C2H2
|
497 |
519 |
1.99e0 |
SMART |
|
ZnF_C2H2
|
526 |
549 |
6.4e0 |
SMART |
|
ZnF_C2H2
|
587 |
610 |
3.72e0 |
SMART |
|
low complexity region
|
668 |
676 |
N/A |
INTRINSIC |
|
low complexity region
|
771 |
788 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
928 |
950 |
1.07e0 |
SMART |
|
ZnF_C2H2
|
1003 |
1025 |
1.43e-1 |
SMART |
|
low complexity region
|
1199 |
1212 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
1226 |
1252 |
5.4e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122980
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124263
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125895
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127434
AA Change: V233A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000122421
Gene: ENSMUSG00000049606
AA Change: V233A
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
411 |
433 |
1.89e-1 |
SMART |
|
ZnF_C2H2
|
449 |
471 |
6.52e-5 |
SMART |
|
ZnF_C2H2
|
497 |
519 |
1.99e0 |
SMART |
|
ZnF_C2H2
|
526 |
549 |
6.4e0 |
SMART |
|
ZnF_C2H2
|
587 |
610 |
3.72e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135108
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137285
AA Change: V233A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149128
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155495
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a zinc finger transcription factor that may play a role in eye development. Defects in this gene have been associated with high myopia. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit normal blood lymphocyte populations. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933405L10Rik |
A |
G |
8: 105,709,512 (GRCm38) |
S139G |
probably benign |
Het |
| Adrb3 |
T |
C |
8: 27,227,377 (GRCm38) |
D348G |
probably damaging |
Het |
| Atg2b |
A |
G |
12: 105,621,328 (GRCm38) |
V1959A |
probably benign |
Het |
| Bicral |
G |
A |
17: 46,808,369 (GRCm38) |
T742M |
probably damaging |
Het |
| Bub1b |
T |
A |
2: 118,605,431 (GRCm38) |
I60N |
probably damaging |
Het |
| Ccdc162 |
A |
G |
10: 41,569,934 (GRCm38) |
V414A |
probably benign |
Het |
| Cd22 |
T |
G |
7: 30,869,773 (GRCm38) |
Y612S |
probably damaging |
Het |
| Cd68 |
T |
A |
11: 69,664,421 (GRCm38) |
I320F |
probably damaging |
Het |
| Clca3a2 |
A |
T |
3: 144,797,632 (GRCm38) |
N852K |
probably benign |
Het |
| Cpa6 |
T |
A |
1: 10,329,514 (GRCm38) |
H363L |
probably benign |
Het |
| Ddx18 |
A |
T |
1: 121,561,358 (GRCm38) |
L320Q |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,421,064 (GRCm38) |
D3849G |
probably benign |
Het |
| Eci1 |
T |
A |
17: 24,437,309 (GRCm38) |
N164K |
probably damaging |
Het |
| Efs |
T |
C |
14: 54,917,127 (GRCm38) |
T552A |
probably damaging |
Het |
| Fbp1 |
C |
A |
13: 62,875,196 (GRCm38) |
V96L |
probably damaging |
Het |
| Gtf3c1 |
T |
A |
7: 125,662,654 (GRCm38) |
N1139I |
probably benign |
Het |
| Gucy1b2 |
T |
C |
14: 62,422,981 (GRCm38) |
Y152C |
probably damaging |
Het |
| Gxylt1 |
A |
T |
15: 93,245,661 (GRCm38) |
L362Q |
probably damaging |
Het |
| Iqcd |
A |
G |
5: 120,605,126 (GRCm38) |
|
probably null |
Het |
| Klhl41 |
T |
A |
2: 69,683,532 (GRCm38) |
I585N |
possibly damaging |
Het |
| Map6 |
A |
G |
7: 99,336,298 (GRCm38) |
K470E |
probably damaging |
Het |
| Mast3 |
T |
C |
8: 70,786,221 (GRCm38) |
T496A |
probably damaging |
Het |
| Mbd6 |
A |
T |
10: 127,285,286 (GRCm38) |
|
probably benign |
Het |
| Melk |
A |
G |
4: 44,312,237 (GRCm38) |
K183R |
possibly damaging |
Het |
| Mta1 |
T |
C |
12: 113,123,139 (GRCm38) |
V152A |
probably damaging |
Het |
| Naa35 |
G |
A |
13: 59,622,866 (GRCm38) |
|
probably benign |
Het |
| Nav3 |
A |
C |
10: 109,764,633 (GRCm38) |
S1378A |
probably damaging |
Het |
| Ncapd3 |
T |
A |
9: 27,051,645 (GRCm38) |
D415E |
possibly damaging |
Het |
| Nlrp4f |
G |
A |
13: 65,190,871 (GRCm38) |
R651* |
probably null |
Het |
| Olfr1480 |
A |
G |
19: 13,530,380 (GRCm38) |
T280A |
probably benign |
Het |
| Olfr397 |
T |
A |
11: 73,964,710 (GRCm38) |
M34K |
probably damaging |
Het |
| Olfr497 |
A |
G |
7: 108,422,618 (GRCm38) |
I16V |
probably benign |
Het |
| P2rx7 |
A |
T |
5: 122,673,717 (GRCm38) |
R364W |
probably damaging |
Het |
| Phactr2 |
T |
C |
10: 13,388,703 (GRCm38) |
D2G |
probably benign |
Het |
| Phc3 |
G |
T |
3: 30,965,866 (GRCm38) |
S28R |
probably damaging |
Het |
| Ppfia1 |
A |
T |
7: 144,519,974 (GRCm38) |
|
probably null |
Het |
| Prdm10 |
C |
T |
9: 31,353,417 (GRCm38) |
T667M |
probably benign |
Het |
| Pwwp2b |
T |
A |
7: 139,255,971 (GRCm38) |
S443T |
possibly damaging |
Het |
| Pzp |
T |
C |
6: 128,490,072 (GRCm38) |
T1113A |
probably damaging |
Het |
| Rapgef6 |
A |
G |
11: 54,636,136 (GRCm38) |
E551G |
possibly damaging |
Het |
| Sec23ip |
A |
G |
7: 128,776,784 (GRCm38) |
Y774C |
probably damaging |
Het |
| Setdb2 |
T |
C |
14: 59,419,118 (GRCm38) |
D266G |
probably damaging |
Het |
| Shank1 |
T |
C |
7: 44,352,886 (GRCm38) |
V1343A |
probably benign |
Het |
| Slf2 |
T |
A |
19: 44,973,235 (GRCm38) |
D1064E |
probably benign |
Het |
| Slu7 |
A |
G |
11: 43,443,418 (GRCm38) |
K424E |
probably benign |
Het |
| Smg1 |
A |
T |
7: 118,154,664 (GRCm38) |
|
probably benign |
Het |
| Sptlc2 |
A |
T |
12: 87,346,761 (GRCm38) |
L264Q |
probably damaging |
Het |
| Sra1 |
A |
G |
18: 36,678,407 (GRCm38) |
S93P |
probably damaging |
Het |
| Sult1c1 |
T |
C |
17: 53,964,652 (GRCm38) |
E169G |
probably benign |
Het |
| Sv2a |
A |
G |
3: 96,185,572 (GRCm38) |
D196G |
probably damaging |
Het |
| Tbc1d22b |
A |
G |
17: 29,594,780 (GRCm38) |
I362M |
probably damaging |
Het |
| Tenm3 |
T |
C |
8: 48,228,762 (GRCm38) |
D2611G |
probably damaging |
Het |
| Tmem43 |
T |
C |
6: 91,480,708 (GRCm38) |
F191L |
probably benign |
Het |
| Trbv13-2 |
T |
A |
6: 41,121,694 (GRCm38) |
Y68N |
probably benign |
Het |
| Ttn |
T |
G |
2: 76,774,654 (GRCm38) |
D18312A |
possibly damaging |
Het |
| Ublcp1 |
A |
G |
11: 44,465,606 (GRCm38) |
V95A |
probably damaging |
Het |
| Usp17ld |
A |
G |
7: 103,250,840 (GRCm38) |
V295A |
probably damaging |
Het |
| Vmn1r29 |
T |
A |
6: 58,308,167 (GRCm38) |
L291M |
possibly damaging |
Het |
| Vsig10l |
C |
T |
7: 43,464,151 (GRCm38) |
R176* |
probably null |
Het |
| Zbtb46 |
A |
G |
2: 181,423,417 (GRCm38) |
|
probably null |
Het |
|
| Other mutations in Zfp644 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00963:Zfp644
|
APN |
5 |
106,638,637 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
IGL01654:Zfp644
|
APN |
5 |
106,635,930 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01967:Zfp644
|
APN |
5 |
106,638,243 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02132:Zfp644
|
APN |
5 |
106,635,894 (GRCm38) |
missense |
probably benign |
0.22 |
|
IGL02164:Zfp644
|
APN |
5 |
106,638,099 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02303:Zfp644
|
APN |
5 |
106,637,314 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03091:Zfp644
|
APN |
5 |
106,636,858 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03102:Zfp644
|
APN |
5 |
106,637,268 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL03298:Zfp644
|
APN |
5 |
106,635,101 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
PIT4466001:Zfp644
|
UTSW |
5 |
106,636,477 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0012:Zfp644
|
UTSW |
5 |
106,635,043 (GRCm38) |
missense |
probably benign |
0.11 |
|
R0012:Zfp644
|
UTSW |
5 |
106,635,043 (GRCm38) |
missense |
probably benign |
0.11 |
|
R0038:Zfp644
|
UTSW |
5 |
106,635,043 (GRCm38) |
missense |
probably benign |
0.11 |
|
R0038:Zfp644
|
UTSW |
5 |
106,635,043 (GRCm38) |
missense |
probably benign |
0.11 |
|
R0058:Zfp644
|
UTSW |
5 |
106,637,003 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R0058:Zfp644
|
UTSW |
5 |
106,637,003 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R0178:Zfp644
|
UTSW |
5 |
106,636,905 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0497:Zfp644
|
UTSW |
5 |
106,638,333 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1302:Zfp644
|
UTSW |
5 |
106,634,899 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1337:Zfp644
|
UTSW |
5 |
106,637,554 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1400:Zfp644
|
UTSW |
5 |
106,637,470 (GRCm38) |
splice site |
probably null |
|
|
R1597:Zfp644
|
UTSW |
5 |
106,638,333 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1911:Zfp644
|
UTSW |
5 |
106,635,271 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R2021:Zfp644
|
UTSW |
5 |
106,635,682 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R2196:Zfp644
|
UTSW |
5 |
106,638,603 (GRCm38) |
start codon destroyed |
probably null |
0.02 |
|
R2256:Zfp644
|
UTSW |
5 |
106,635,845 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2311:Zfp644
|
UTSW |
5 |
106,634,956 (GRCm38) |
missense |
probably benign |
0.21 |
|
R2420:Zfp644
|
UTSW |
5 |
106,637,244 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R2421:Zfp644
|
UTSW |
5 |
106,637,244 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R2422:Zfp644
|
UTSW |
5 |
106,637,244 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R3752:Zfp644
|
UTSW |
5 |
106,636,383 (GRCm38) |
missense |
probably benign |
|
|
R4207:Zfp644
|
UTSW |
5 |
106,618,276 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4285:Zfp644
|
UTSW |
5 |
106,635,118 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4874:Zfp644
|
UTSW |
5 |
106,635,413 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4961:Zfp644
|
UTSW |
5 |
106,618,215 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R4984:Zfp644
|
UTSW |
5 |
106,636,917 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R5007:Zfp644
|
UTSW |
5 |
106,636,001 (GRCm38) |
missense |
probably benign |
|
|
R5358:Zfp644
|
UTSW |
5 |
106,635,675 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5382:Zfp644
|
UTSW |
5 |
106,634,869 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R5416:Zfp644
|
UTSW |
5 |
106,618,428 (GRCm38) |
splice site |
silent |
|
|
R5641:Zfp644
|
UTSW |
5 |
106,619,595 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5732:Zfp644
|
UTSW |
5 |
106,637,123 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6039:Zfp644
|
UTSW |
5 |
106,635,425 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R6039:Zfp644
|
UTSW |
5 |
106,635,425 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R6306:Zfp644
|
UTSW |
5 |
106,638,124 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6317:Zfp644
|
UTSW |
5 |
106,635,845 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6354:Zfp644
|
UTSW |
5 |
106,636,753 (GRCm38) |
missense |
probably benign |
0.23 |
|
R6886:Zfp644
|
UTSW |
5 |
106,637,911 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R7223:Zfp644
|
UTSW |
5 |
106,637,582 (GRCm38) |
nonsense |
probably null |
|
|
R7326:Zfp644
|
UTSW |
5 |
106,638,277 (GRCm38) |
missense |
probably benign |
0.12 |
|
R7450:Zfp644
|
UTSW |
5 |
106,638,526 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8095:Zfp644
|
UTSW |
5 |
106,618,414 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R8710:Zfp644
|
UTSW |
5 |
106,635,131 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8822:Zfp644
|
UTSW |
5 |
106,635,221 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R8936:Zfp644
|
UTSW |
5 |
106,635,637 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8975:Zfp644
|
UTSW |
5 |
106,637,601 (GRCm38) |
missense |
probably benign |
|
|
R9056:Zfp644
|
UTSW |
5 |
106,636,078 (GRCm38) |
nonsense |
probably null |
|
|
R9192:Zfp644
|
UTSW |
5 |
106,637,963 (GRCm38) |
missense |
probably benign |
|
|
R9250:Zfp644
|
UTSW |
5 |
106,636,833 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9287:Zfp644
|
UTSW |
5 |
106,637,908 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R9313:Zfp644
|
UTSW |
5 |
106,636,458 (GRCm38) |
missense |
probably benign |
0.25 |
|
R9600:Zfp644
|
UTSW |
5 |
106,636,043 (GRCm38) |
missense |
probably benign |
|
|
R9766:Zfp644
|
UTSW |
5 |
106,636,825 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9789:Zfp644
|
UTSW |
5 |
106,638,265 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
X0011:Zfp644
|
UTSW |
5 |
106,618,427 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1176:Zfp644
|
UTSW |
5 |
106,635,744 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGAGTGATCTTGCTCACATCC -3'
(R):5'- AGCAAGTCAACACCAAGTTCTG -3'
Sequencing Primer
(F):5'- AGTGATCTTGCTCACATCCATTTTTC -3'
(R):5'- GTCAACACCAAGTTCTGTTTTTG -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation