Incidental Mutation 'R7223:Zfp644'
ID |
561930 |
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 |
045295-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.177)
|
Stock # |
R7223 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
106616739-106697287 bp(-) (GRCm38) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 106637582 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 366
(Y366*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000038047
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045466]
[ENSMUST00000112695]
[ENSMUST00000112696]
[ENSMUST00000112698]
[ENSMUST00000122980]
[ENSMUST00000124263]
[ENSMUST00000127434]
[ENSMUST00000135108]
[ENSMUST00000137285]
[ENSMUST00000155495]
|
AlphaFold |
E9QA22 |
Predicted Effect |
probably null
Transcript: ENSMUST00000045466
AA Change: Y366*
|
SMART Domains |
Protein: ENSMUSP00000038047 Gene: ENSMUSG00000049606 AA Change: Y366*
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 null
Transcript: ENSMUST00000112696
AA Change: Y366*
|
SMART Domains |
Protein: ENSMUSP00000108316 Gene: ENSMUSG00000049606 AA Change: Y366*
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 null
Transcript: ENSMUST00000112698
AA Change: Y366*
|
SMART Domains |
Protein: ENSMUSP00000108318 Gene: ENSMUSG00000049606 AA Change: Y366*
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 |
probably null
Transcript: ENSMUST00000127434
AA Change: Y366*
|
SMART Domains |
Protein: ENSMUSP00000122421 Gene: ENSMUSG00000049606 AA Change: Y366*
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
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155495
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
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: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb11 |
A |
T |
2: 69,274,143 |
V733E |
probably benign |
Het |
Adam34 |
A |
T |
8: 43,652,004 |
N201K |
probably benign |
Het |
Aldh3b2 |
A |
C |
19: 3,979,592 |
S322R |
probably damaging |
Het |
Anpep |
A |
T |
7: 79,825,310 |
L914Q |
probably damaging |
Het |
Arhgap30 |
T |
C |
1: 171,407,571 |
F535S |
probably damaging |
Het |
Baiap3 |
G |
A |
17: 25,243,840 |
R1075C |
probably benign |
Het |
Baz2a |
G |
T |
10: 128,112,606 |
G252V |
probably damaging |
Het |
Brinp3 |
T |
A |
1: 146,901,074 |
S420T |
possibly damaging |
Het |
Carmil3 |
T |
C |
14: 55,496,238 |
F359S |
possibly damaging |
Het |
Ccdc124 |
A |
T |
8: 70,868,526 |
L190Q |
probably damaging |
Het |
Ccr6 |
T |
C |
17: 8,256,140 |
V59A |
probably damaging |
Het |
Ccr8 |
T |
A |
9: 120,094,617 |
I266N |
probably damaging |
Het |
Cdh23 |
T |
A |
10: 60,331,817 |
E1798V |
probably damaging |
Het |
Cdk5rap2 |
T |
C |
4: 70,235,447 |
N1713S |
probably benign |
Het |
Cep19 |
T |
A |
16: 32,104,015 |
I33N |
probably damaging |
Het |
Cers3 |
A |
T |
7: 66,783,415 |
Y196F |
probably damaging |
Het |
Cidea |
T |
C |
18: 67,366,421 |
I126T |
probably damaging |
Het |
Copg2 |
A |
T |
6: 30,812,754 |
Y546* |
probably null |
Het |
Cul3 |
A |
T |
1: 80,287,000 |
V261E |
probably benign |
Het |
Cyp2g1 |
A |
T |
7: 26,814,632 |
D221V |
probably damaging |
Het |
Cyp8b1 |
G |
A |
9: 121,915,097 |
H390Y |
probably damaging |
Het |
Daam1 |
T |
C |
12: 71,988,943 |
F971L |
probably damaging |
Het |
Dnajc24 |
G |
A |
2: 106,001,966 |
S24L |
possibly damaging |
Het |
Dpysl3 |
T |
C |
18: 43,438,042 |
S56G |
probably benign |
Het |
Esp1 |
A |
G |
17: 40,731,081 |
D88G |
probably benign |
Het |
Fam171b |
A |
G |
2: 83,878,230 |
T359A |
probably damaging |
Het |
Fam186b |
T |
C |
15: 99,279,837 |
E536G |
possibly damaging |
Het |
Fbxo3 |
T |
C |
2: 104,043,012 |
V156A |
possibly damaging |
Het |
Gls2 |
C |
A |
10: 128,199,194 |
H65Q |
probably benign |
Het |
Gp2 |
A |
G |
7: 119,451,498 |
|
probably null |
Het |
Gpcpd1 |
T |
A |
2: 132,534,056 |
K435I |
probably benign |
Het |
Gpx6 |
T |
A |
13: 21,317,670 |
|
probably null |
Het |
Hps3 |
A |
T |
3: 20,030,419 |
S202T |
probably benign |
Het |
Htr1d |
T |
A |
4: 136,443,501 |
L347H |
probably damaging |
Het |
Igfals |
T |
C |
17: 24,881,234 |
L433P |
probably damaging |
Het |
Ilvbl |
C |
T |
10: 78,583,696 |
H537Y |
probably benign |
Het |
Iqgap2 |
A |
T |
13: 95,628,972 |
M1530K |
probably damaging |
Het |
Jarid2 |
A |
G |
13: 44,896,322 |
T247A |
possibly damaging |
Het |
L3hypdh |
C |
T |
12: 72,074,009 |
V323I |
possibly damaging |
Het |
Lama3 |
C |
T |
18: 12,582,608 |
T1707I |
possibly damaging |
Het |
Map6 |
G |
T |
7: 99,268,025 |
A2S |
probably damaging |
Het |
Mfap3 |
T |
A |
11: 57,530,240 |
I349K |
probably benign |
Het |
Mybl2 |
A |
G |
2: 163,072,705 |
T248A |
probably benign |
Het |
N6amt1 |
A |
G |
16: 87,362,660 |
*151W |
probably null |
Het |
Nhlrc1 |
A |
G |
13: 47,014,208 |
V191A |
probably benign |
Het |
Nkx2-5 |
T |
C |
17: 26,839,620 |
E120G |
possibly damaging |
Het |
Olfr1066 |
T |
A |
2: 86,455,867 |
I135F |
possibly damaging |
Het |
Olfr1380 |
T |
A |
11: 49,564,098 |
M59K |
probably damaging |
Het |
Olfr582 |
C |
A |
7: 103,041,632 |
T46N |
possibly damaging |
Het |
Olfr890 |
T |
C |
9: 38,143,753 |
V201A |
probably benign |
Het |
Pcdha8 |
T |
G |
18: 36,993,148 |
L228V |
probably benign |
Het |
Pcsk2 |
A |
G |
2: 143,690,333 |
T134A |
possibly damaging |
Het |
Phldb3 |
G |
A |
7: 24,624,653 |
R484Q |
probably benign |
Het |
Pipox |
A |
G |
11: 77,881,186 |
S371P |
probably damaging |
Het |
Plekhg1 |
T |
C |
10: 3,873,343 |
S159P |
|
Het |
Psme4 |
C |
T |
11: 30,874,226 |
P1737S |
probably benign |
Het |
Pygm |
G |
A |
19: 6,388,863 |
D328N |
probably benign |
Het |
Rabgef1 |
A |
T |
5: 130,190,960 |
E88V |
probably benign |
Het |
Rims2 |
G |
T |
15: 39,437,032 |
R245L |
probably benign |
Het |
Slc38a4 |
T |
C |
15: 97,010,345 |
I172V |
probably damaging |
Het |
Slc4a10 |
T |
A |
2: 62,268,665 |
Y586N |
probably damaging |
Het |
Snap91 |
C |
T |
9: 86,879,557 |
|
probably benign |
Het |
Sorcs1 |
C |
T |
19: 50,190,042 |
V881I |
probably benign |
Het |
Spef2 |
A |
T |
15: 9,601,640 |
V1512E |
unknown |
Het |
Sufu |
T |
C |
19: 46,453,277 |
I292T |
possibly damaging |
Het |
Tet1 |
T |
C |
10: 62,813,671 |
N87D |
possibly damaging |
Het |
Tmem108 |
T |
C |
9: 103,499,534 |
T239A |
not run |
Het |
Tmem121 |
A |
T |
12: 113,188,494 |
K111* |
probably null |
Het |
Tpp2 |
T |
A |
1: 43,968,888 |
D417E |
probably damaging |
Het |
Tpr |
G |
A |
1: 150,439,256 |
E2025K |
possibly damaging |
Het |
Trappc3 |
C |
T |
4: 126,275,152 |
A145V |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,890,981 |
D6754G |
probably null |
Het |
Unc13c |
T |
A |
9: 73,629,191 |
M1627L |
probably benign |
Het |
Ush2a |
A |
G |
1: 188,810,217 |
I3327V |
probably benign |
Het |
Vmn1r74 |
C |
T |
7: 11,846,967 |
Q65* |
probably null |
Het |
Wdr18 |
G |
A |
10: 79,960,368 |
R69H |
probably damaging |
Het |
Zbed5 |
G |
T |
5: 129,900,438 |
D132Y |
probably damaging |
Het |
Zfyve26 |
T |
C |
12: 79,246,171 |
N2068S |
probably damaging |
Het |
Zic2 |
T |
C |
14: 122,476,091 |
F139S |
probably damaging |
Het |
Zmynd11 |
T |
C |
13: 9,710,162 |
Q141R |
probably benign |
Het |
Zrsr1 |
A |
G |
11: 22,973,388 |
E54G |
probably benign |
Het |
Zscan10 |
G |
A |
17: 23,609,482 |
D333N |
probably benign |
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 |
R5656:Zfp644
|
UTSW |
5 |
106,637,982 (GRCm38) |
missense |
probably benign |
0.12 |
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 |
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'- ACATCATATGCCTGTGGAGATG -3'
(R):5'- TGAGCAAGATCACTCGCTACAC -3'
Sequencing Primer
(F):5'- CATATGCCTGTGGAGATGCTTTTTC -3'
(R):5'- CAGAGGACTGCTACAGTGACTC -3'
|
Posted On |
2019-06-26 |