Incidental Mutation 'IGL01774:Zfp990'
| ID |
154041 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp990
|
| Ensembl Gene |
ENSMUSG00000078503 |
| Gene Name |
zinc finger protein 990 |
| Synonyms |
Gm13225 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
IGL01774
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
145237329-145265751 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 145263518 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 172
(V172A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101368
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105741]
[ENSMUST00000105742]
[ENSMUST00000136309]
|
| AlphaFold |
B1AVN5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105741
AA Change: V172A
PolyPhen 2
Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000101367
Gene: ENSMUSG00000078503
AA Change: V172A
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
13 |
76 |
1.34e-15 |
SMART |
|
ZnF_C2H2
|
240 |
262 |
2.24e-3 |
SMART |
|
ZnF_C2H2
|
268 |
290 |
3.58e-2 |
SMART |
|
ZnF_C2H2
|
296 |
318 |
8.34e-3 |
SMART |
|
ZnF_C2H2
|
324 |
346 |
1.22e-4 |
SMART |
|
ZnF_C2H2
|
352 |
374 |
1.4e-4 |
SMART |
|
ZnF_C2H2
|
380 |
402 |
9.73e-4 |
SMART |
|
ZnF_C2H2
|
408 |
430 |
1.6e-4 |
SMART |
|
ZnF_C2H2
|
436 |
458 |
1.92e-2 |
SMART |
|
ZnF_C2H2
|
464 |
486 |
1.4e-4 |
SMART |
|
ZnF_C2H2
|
492 |
514 |
9.73e-4 |
SMART |
|
ZnF_C2H2
|
520 |
542 |
1.84e-4 |
SMART |
|
ZnF_C2H2
|
548 |
570 |
4.47e-3 |
SMART |
|
ZnF_C2H2
|
576 |
598 |
4.47e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105742
AA Change: V172A
PolyPhen 2
Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000101368
Gene: ENSMUSG00000078503
AA Change: V172A
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
13 |
76 |
1.34e-15 |
SMART |
|
ZnF_C2H2
|
240 |
262 |
2.24e-3 |
SMART |
|
ZnF_C2H2
|
268 |
290 |
3.58e-2 |
SMART |
|
ZnF_C2H2
|
296 |
318 |
8.34e-3 |
SMART |
|
ZnF_C2H2
|
324 |
346 |
1.22e-4 |
SMART |
|
ZnF_C2H2
|
352 |
374 |
1.4e-4 |
SMART |
|
ZnF_C2H2
|
380 |
402 |
9.73e-4 |
SMART |
|
ZnF_C2H2
|
408 |
430 |
1.6e-4 |
SMART |
|
ZnF_C2H2
|
436 |
458 |
1.92e-2 |
SMART |
|
ZnF_C2H2
|
464 |
486 |
1.4e-4 |
SMART |
|
ZnF_C2H2
|
492 |
514 |
9.73e-4 |
SMART |
|
ZnF_C2H2
|
520 |
542 |
1.84e-4 |
SMART |
|
ZnF_C2H2
|
548 |
570 |
4.47e-3 |
SMART |
|
ZnF_C2H2
|
576 |
598 |
4.47e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136309
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
A |
G |
7: 120,077,058 (GRCm39) |
D708G |
probably damaging |
Het |
| Abca16 |
T |
C |
7: 120,021,024 (GRCm39) |
|
probably benign |
Het |
| Abcc5 |
T |
C |
16: 20,197,207 (GRCm39) |
D674G |
probably damaging |
Het |
| Abr |
A |
G |
11: 76,355,125 (GRCm39) |
|
probably benign |
Het |
| Arfgef3 |
A |
G |
10: 18,619,363 (GRCm39) |
I4T |
possibly damaging |
Het |
| Btla |
A |
G |
16: 45,070,911 (GRCm39) |
N290S |
possibly damaging |
Het |
| Catip |
C |
A |
1: 74,407,642 (GRCm39) |
R325S |
probably damaging |
Het |
| Cep120 |
A |
G |
18: 53,839,902 (GRCm39) |
L786P |
possibly damaging |
Het |
| Cnot8 |
A |
G |
11: 58,006,133 (GRCm39) |
I221V |
probably benign |
Het |
| Eloc |
A |
T |
1: 16,716,013 (GRCm39) |
D37E |
probably benign |
Het |
| Fabp12 |
A |
C |
3: 10,312,754 (GRCm39) |
N89K |
probably benign |
Het |
| Ficd |
G |
T |
5: 113,877,073 (GRCm39) |
R416L |
probably damaging |
Het |
| Frmd3 |
T |
C |
4: 74,106,075 (GRCm39) |
Y574H |
probably damaging |
Het |
| Frmd4a |
T |
C |
2: 4,540,047 (GRCm39) |
|
probably benign |
Het |
| Gatc |
G |
A |
5: 115,479,076 (GRCm39) |
Q45* |
probably null |
Het |
| Gm5414 |
T |
C |
15: 101,535,410 (GRCm39) |
D225G |
probably benign |
Het |
| Itpkc |
G |
T |
7: 26,911,795 (GRCm39) |
A592E |
probably benign |
Het |
| Kl |
G |
T |
5: 150,911,948 (GRCm39) |
V566L |
probably benign |
Het |
| Lpin1 |
T |
A |
12: 16,608,477 (GRCm39) |
D545V |
probably damaging |
Het |
| Mtcl1 |
T |
C |
17: 66,692,880 (GRCm39) |
Y483C |
probably damaging |
Het |
| Neb |
C |
T |
2: 52,112,982 (GRCm39) |
W67* |
probably null |
Het |
| Nrarp |
T |
C |
2: 25,071,298 (GRCm39) |
V59A |
possibly damaging |
Het |
| Nuf2 |
G |
A |
1: 169,333,641 (GRCm39) |
T345M |
probably benign |
Het |
| Or52n20 |
T |
C |
7: 104,320,149 (GRCm39) |
I80T |
probably benign |
Het |
| Pacs2 |
T |
A |
12: 113,020,462 (GRCm39) |
H278Q |
probably benign |
Het |
| Pot1a |
T |
C |
6: 25,753,276 (GRCm39) |
K420R |
probably benign |
Het |
| Rag2 |
A |
G |
2: 101,460,392 (GRCm39) |
Y234C |
probably damaging |
Het |
| Ralgds |
C |
T |
2: 28,440,554 (GRCm39) |
Q88* |
probably null |
Het |
| Rictor |
T |
C |
15: 6,799,258 (GRCm39) |
S365P |
probably damaging |
Het |
| Slco1a1 |
G |
A |
6: 141,871,339 (GRCm39) |
Q276* |
probably null |
Het |
| Tas2r134 |
C |
T |
2: 51,518,160 (GRCm39) |
T213I |
probably benign |
Het |
| Tecpr1 |
A |
G |
5: 144,148,358 (GRCm39) |
I349T |
probably damaging |
Het |
| Tnxb |
T |
C |
17: 34,907,813 (GRCm39) |
S1286P |
probably damaging |
Het |
| Trafd1 |
A |
G |
5: 121,513,113 (GRCm39) |
V375A |
possibly damaging |
Het |
| Vmn2r110 |
T |
A |
17: 20,803,889 (GRCm39) |
I229L |
probably benign |
Het |
| Vnn1 |
T |
C |
10: 23,776,608 (GRCm39) |
Y320H |
probably benign |
Het |
|
| Other mutations in Zfp990 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00841:Zfp990
|
APN |
4 |
145,264,438 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01895:Zfp990
|
APN |
4 |
145,263,428 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01895:Zfp990
|
APN |
4 |
145,263,427 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02349:Zfp990
|
APN |
4 |
145,257,447 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL02598:Zfp990
|
APN |
4 |
145,263,533 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL02940:Zfp990
|
APN |
4 |
145,261,492 (GRCm39) |
splice site |
probably null |
|
|
IGL03026:Zfp990
|
APN |
4 |
145,263,680 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R0007:Zfp990
|
UTSW |
4 |
145,264,008 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0352:Zfp990
|
UTSW |
4 |
145,263,174 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0631:Zfp990
|
UTSW |
4 |
145,263,872 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1490:Zfp990
|
UTSW |
4 |
145,263,853 (GRCm39) |
missense |
probably benign |
0.44 |
|
R1537:Zfp990
|
UTSW |
4 |
145,263,566 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1832:Zfp990
|
UTSW |
4 |
145,264,780 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R1956:Zfp990
|
UTSW |
4 |
145,261,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1982:Zfp990
|
UTSW |
4 |
145,263,439 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2024:Zfp990
|
UTSW |
4 |
145,263,974 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R2097:Zfp990
|
UTSW |
4 |
145,263,892 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2235:Zfp990
|
UTSW |
4 |
145,264,461 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4194:Zfp990
|
UTSW |
4 |
145,263,547 (GRCm39) |
splice site |
probably null |
|
|
R4195:Zfp990
|
UTSW |
4 |
145,263,547 (GRCm39) |
splice site |
probably null |
|
|
R4418:Zfp990
|
UTSW |
4 |
145,263,298 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4617:Zfp990
|
UTSW |
4 |
145,263,616 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R4736:Zfp990
|
UTSW |
4 |
145,263,512 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4880:Zfp990
|
UTSW |
4 |
145,264,490 (GRCm39) |
missense |
probably benign |
|
|
R4941:Zfp990
|
UTSW |
4 |
145,263,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5014:Zfp990
|
UTSW |
4 |
145,264,669 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5945:Zfp990
|
UTSW |
4 |
145,264,613 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6238:Zfp990
|
UTSW |
4 |
145,264,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6255:Zfp990
|
UTSW |
4 |
145,264,359 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6267:Zfp990
|
UTSW |
4 |
145,264,673 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R6296:Zfp990
|
UTSW |
4 |
145,264,673 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R6412:Zfp990
|
UTSW |
4 |
145,264,138 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6616:Zfp990
|
UTSW |
4 |
145,263,715 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6701:Zfp990
|
UTSW |
4 |
145,264,748 (GRCm39) |
missense |
probably benign |
0.45 |
|
R6720:Zfp990
|
UTSW |
4 |
145,263,497 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7015:Zfp990
|
UTSW |
4 |
145,263,205 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7487:Zfp990
|
UTSW |
4 |
145,264,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7722:Zfp990
|
UTSW |
4 |
145,263,532 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8749:Zfp990
|
UTSW |
4 |
145,264,156 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8785:Zfp990
|
UTSW |
4 |
145,264,246 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9161:Zfp990
|
UTSW |
4 |
145,261,509 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9211:Zfp990
|
UTSW |
4 |
145,264,171 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1176:Zfp990
|
UTSW |
4 |
145,263,381 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Posted On |
2014-02-04 |
Incidental Mutation