Incidental Mutation 'IGL01479:Zfp64'
| ID |
88558 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp64
|
| Ensembl Gene |
ENSMUSG00000027551 |
| Gene Name |
zinc finger protein 64 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.863)
|
| Stock # |
IGL01479
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
168735251-168797507 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 168793599 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 49
(H49R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000085285
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087971]
[ENSMUST00000109161]
[ENSMUST00000109162]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000087971
AA Change: H49R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000085285
Gene: ENSMUSG00000027551
AA Change: H49R
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
31 |
51 |
5.54e1 |
SMART |
|
low complexity region
|
71 |
93 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
142 |
167 |
1.68e1 |
SMART |
|
ZnF_C2H2
|
173 |
195 |
2.24e-3 |
SMART |
|
ZnF_C2H2
|
201 |
223 |
1.58e-3 |
SMART |
|
ZnF_C2H2
|
229 |
251 |
2.24e-3 |
SMART |
|
ZnF_C2H2
|
257 |
279 |
3.89e-3 |
SMART |
|
ZnF_C2H2
|
285 |
308 |
6.32e-3 |
SMART |
|
ZnF_C2H2
|
313 |
335 |
2.05e-2 |
SMART |
|
ZnF_C2H2
|
341 |
363 |
1.95e-3 |
SMART |
|
ZnF_C2H2
|
369 |
392 |
1.36e-2 |
SMART |
|
ZnF_C2H2
|
423 |
445 |
1.47e-3 |
SMART |
|
low complexity region
|
503 |
522 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109161
AA Change: H49R
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000104789
Gene: ENSMUSG00000027551
AA Change: H49R
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
31 |
51 |
5.54e1 |
SMART |
|
low complexity region
|
71 |
93 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
142 |
167 |
1.68e1 |
SMART |
|
ZnF_C2H2
|
173 |
195 |
2.24e-3 |
SMART |
|
ZnF_C2H2
|
201 |
223 |
1.58e-3 |
SMART |
|
ZnF_C2H2
|
229 |
251 |
2.24e-3 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109162
AA Change: H49R
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000104790
Gene: ENSMUSG00000027551
AA Change: H49R
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
31 |
51 |
5.54e1 |
SMART |
|
low complexity region
|
71 |
93 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
142 |
167 |
1.68e1 |
SMART |
|
ZnF_C2H2
|
173 |
195 |
2.24e-3 |
SMART |
|
ZnF_C2H2
|
201 |
223 |
1.58e-3 |
SMART |
|
ZnF_C2H2
|
229 |
251 |
2.24e-3 |
SMART |
|
ZnF_C2H2
|
297 |
322 |
5.2e0 |
SMART |
|
ZnF_C2H2
|
328 |
350 |
4.17e-3 |
SMART |
|
ZnF_C2H2
|
356 |
378 |
6.78e-3 |
SMART |
|
ZnF_C2H2
|
384 |
406 |
2.24e-3 |
SMART |
|
ZnF_C2H2
|
412 |
434 |
1.79e-2 |
SMART |
|
ZnF_C2H2
|
440 |
463 |
9.58e-3 |
SMART |
|
ZnF_C2H2
|
465 |
487 |
3.78e-1 |
SMART |
|
ZnF_C2H2
|
493 |
515 |
3.89e-3 |
SMART |
|
ZnF_C2H2
|
521 |
544 |
1.92e-2 |
SMART |
|
ZnF_C2H2
|
578 |
600 |
5.34e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136242
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c12 |
T |
C |
13: 4,322,934 (GRCm39) |
K225R |
probably benign |
Het |
| Amn |
C |
A |
12: 111,238,227 (GRCm39) |
A47E |
probably damaging |
Het |
| Arhgef1 |
T |
C |
7: 24,612,028 (GRCm39) |
I137T |
probably benign |
Het |
| Cep57l1 |
T |
C |
10: 41,604,635 (GRCm39) |
K165E |
possibly damaging |
Het |
| Chfr |
A |
G |
5: 110,292,859 (GRCm39) |
|
probably benign |
Het |
| Dnah9 |
A |
G |
11: 65,846,543 (GRCm39) |
V2923A |
probably benign |
Het |
| Dnaja2 |
T |
C |
8: 86,280,580 (GRCm39) |
Y35C |
probably damaging |
Het |
| Dnajc2 |
T |
C |
5: 21,962,891 (GRCm39) |
T481A |
probably damaging |
Het |
| Foxred2 |
A |
G |
15: 77,836,489 (GRCm39) |
|
probably null |
Het |
| Gin1 |
C |
T |
1: 97,720,097 (GRCm39) |
T364I |
possibly damaging |
Het |
| Glt8d2 |
C |
T |
10: 82,496,570 (GRCm39) |
V163I |
probably damaging |
Het |
| Gm10118 |
T |
C |
10: 63,762,599 (GRCm39) |
|
probably benign |
Het |
| Hps5 |
C |
T |
7: 46,412,366 (GRCm39) |
|
probably null |
Het |
| Kdm4c |
A |
G |
4: 74,261,738 (GRCm39) |
K638E |
probably benign |
Het |
| L3mbtl2 |
A |
G |
15: 81,560,593 (GRCm39) |
T285A |
probably benign |
Het |
| Mab21l1 |
A |
G |
3: 55,691,253 (GRCm39) |
Y280C |
probably damaging |
Het |
| Mcoln2 |
T |
A |
3: 145,881,407 (GRCm39) |
|
probably benign |
Het |
| Myo9b |
G |
T |
8: 71,811,986 (GRCm39) |
R1926L |
probably damaging |
Het |
| Rrp12 |
A |
G |
19: 41,853,641 (GRCm39) |
V1251A |
probably benign |
Het |
| Rtn4rl1 |
A |
G |
11: 75,156,168 (GRCm39) |
D200G |
probably damaging |
Het |
| Sbsn |
G |
A |
7: 30,451,782 (GRCm39) |
A266T |
possibly damaging |
Het |
| Sgca |
A |
T |
11: 94,854,204 (GRCm39) |
C335* |
probably null |
Het |
| Spag1 |
T |
C |
15: 36,233,345 (GRCm39) |
|
probably benign |
Het |
| Sult6b1 |
A |
T |
17: 79,213,005 (GRCm39) |
V82D |
probably benign |
Het |
| Tigit |
T |
C |
16: 43,479,885 (GRCm39) |
T137A |
probably benign |
Het |
| Tmem125 |
G |
A |
4: 118,398,820 (GRCm39) |
Q204* |
probably null |
Het |
| Tmem59l |
C |
T |
8: 70,938,748 (GRCm39) |
R111Q |
probably benign |
Het |
| Vmn2r95 |
G |
A |
17: 18,664,124 (GRCm39) |
G448R |
probably damaging |
Het |
|
| Other mutations in Zfp64 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00155:Zfp64
|
APN |
2 |
168,768,601 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02320:Zfp64
|
APN |
2 |
168,768,118 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03411:Zfp64
|
APN |
2 |
168,793,462 (GRCm39) |
splice site |
probably null |
|
|
PIT4362001:Zfp64
|
UTSW |
2 |
168,767,735 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0033:Zfp64
|
UTSW |
2 |
168,767,635 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0033:Zfp64
|
UTSW |
2 |
168,767,635 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0230:Zfp64
|
UTSW |
2 |
168,754,150 (GRCm39) |
splice site |
probably benign |
|
|
R0325:Zfp64
|
UTSW |
2 |
168,767,960 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0689:Zfp64
|
UTSW |
2 |
168,777,121 (GRCm39) |
splice site |
probably benign |
|
|
R1741:Zfp64
|
UTSW |
2 |
168,768,238 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2054:Zfp64
|
UTSW |
2 |
168,767,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2133:Zfp64
|
UTSW |
2 |
168,782,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2254:Zfp64
|
UTSW |
2 |
168,768,662 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4093:Zfp64
|
UTSW |
2 |
168,767,855 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4094:Zfp64
|
UTSW |
2 |
168,767,855 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4257:Zfp64
|
UTSW |
2 |
168,768,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4630:Zfp64
|
UTSW |
2 |
168,768,463 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4642:Zfp64
|
UTSW |
2 |
168,776,851 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4817:Zfp64
|
UTSW |
2 |
168,768,032 (GRCm39) |
missense |
probably benign |
|
|
R4880:Zfp64
|
UTSW |
2 |
168,736,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5051:Zfp64
|
UTSW |
2 |
168,768,304 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5155:Zfp64
|
UTSW |
2 |
168,748,885 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5562:Zfp64
|
UTSW |
2 |
168,767,642 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5619:Zfp64
|
UTSW |
2 |
168,741,734 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5619:Zfp64
|
UTSW |
2 |
168,741,735 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5620:Zfp64
|
UTSW |
2 |
168,741,888 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R5919:Zfp64
|
UTSW |
2 |
168,768,419 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6156:Zfp64
|
UTSW |
2 |
168,768,088 (GRCm39) |
missense |
probably benign |
0.34 |
|
R6364:Zfp64
|
UTSW |
2 |
168,754,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6488:Zfp64
|
UTSW |
2 |
168,777,129 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6512:Zfp64
|
UTSW |
2 |
168,735,997 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6588:Zfp64
|
UTSW |
2 |
168,768,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7103:Zfp64
|
UTSW |
2 |
168,768,357 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7313:Zfp64
|
UTSW |
2 |
168,741,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7470:Zfp64
|
UTSW |
2 |
168,767,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7529:Zfp64
|
UTSW |
2 |
168,735,992 (GRCm39) |
missense |
probably benign |
|
|
R7560:Zfp64
|
UTSW |
2 |
168,767,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7963:Zfp64
|
UTSW |
2 |
168,793,538 (GRCm39) |
missense |
probably benign |
0.32 |
|
R8037:Zfp64
|
UTSW |
2 |
168,741,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8038:Zfp64
|
UTSW |
2 |
168,741,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8825:Zfp64
|
UTSW |
2 |
168,793,552 (GRCm39) |
missense |
probably benign |
|
|
R8840:Zfp64
|
UTSW |
2 |
168,768,635 (GRCm39) |
missense |
probably benign |
|
|
R8891:Zfp64
|
UTSW |
2 |
168,797,083 (GRCm39) |
start codon destroyed |
probably null |
0.37 |
|
R9062:Zfp64
|
UTSW |
2 |
168,767,747 (GRCm39) |
missense |
probably benign |
|
|
R9592:Zfp64
|
UTSW |
2 |
168,768,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9681:Zfp64
|
UTSW |
2 |
168,793,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-11-18 |
Incidental Mutation