Incidental Mutation 'IGL02940:Zfp990'
| ID |
364451 |
| 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: 0.067)
|
| Stock # |
IGL02940
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
145237329-145265751 bp(+) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 145261492 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122038
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105741]
[ENSMUST00000105742]
[ENSMUST00000136309]
|
| AlphaFold |
B1AVN5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105741
AA Change: Y46C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000101367
Gene: ENSMUSG00000078503
AA Change: Y46C
| 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 damaging
Transcript: ENSMUST00000105742
AA Change: Y46C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000101368
Gene: ENSMUSG00000078503
AA Change: Y46C
| 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 null
Transcript: ENSMUST00000136309
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg3 |
T |
A |
8: 95,760,084 (GRCm39) |
V101D |
possibly damaging |
Het |
| Brca1 |
T |
C |
11: 101,380,738 (GRCm39) |
D1765G |
probably benign |
Het |
| Cadps2 |
T |
C |
6: 23,496,808 (GRCm39) |
K450R |
probably benign |
Het |
| Cc2d2a |
A |
T |
5: 43,885,636 (GRCm39) |
|
probably null |
Het |
| Dbh |
A |
G |
2: 27,058,321 (GRCm39) |
Y163C |
probably damaging |
Het |
| Drc7 |
T |
A |
8: 95,800,925 (GRCm39) |
I649N |
probably damaging |
Het |
| Dst |
G |
A |
1: 34,328,668 (GRCm39) |
A7097T |
probably benign |
Het |
| Fbxo46 |
A |
G |
7: 18,869,537 (GRCm39) |
H52R |
probably benign |
Het |
| Gm9944 |
T |
C |
4: 144,179,709 (GRCm39) |
|
probably benign |
Het |
| Lsm14a |
G |
T |
7: 34,070,596 (GRCm39) |
S100* |
probably null |
Het |
| Mrc2 |
C |
T |
11: 105,231,997 (GRCm39) |
R850C |
probably damaging |
Het |
| Musk |
A |
G |
4: 58,373,364 (GRCm39) |
D763G |
probably damaging |
Het |
| Ncan |
C |
T |
8: 70,562,735 (GRCm39) |
V508I |
probably benign |
Het |
| Or4k35 |
A |
T |
2: 111,100,073 (GRCm39) |
L213Q |
probably damaging |
Het |
| Pgls |
C |
T |
8: 72,046,741 (GRCm39) |
S18L |
probably damaging |
Het |
| Phf20l1 |
A |
G |
15: 66,467,000 (GRCm39) |
T98A |
probably damaging |
Het |
| Ppp1r36dn |
A |
C |
12: 76,497,944 (GRCm39) |
|
noncoding transcript |
Het |
| Prdm13 |
T |
A |
4: 21,683,421 (GRCm39) |
K180* |
probably null |
Het |
| Rai1 |
T |
C |
11: 60,077,844 (GRCm39) |
V636A |
probably benign |
Het |
| Setd5 |
T |
C |
6: 113,091,899 (GRCm39) |
F240S |
possibly damaging |
Het |
| Slco1a5 |
A |
G |
6: 142,187,731 (GRCm39) |
L536P |
probably damaging |
Het |
| Stk39 |
C |
T |
2: 68,051,243 (GRCm39) |
|
probably null |
Het |
| Tenm2 |
T |
C |
11: 35,932,471 (GRCm39) |
T1707A |
probably damaging |
Het |
| Tlr2 |
A |
T |
3: 83,743,781 (GRCm39) |
D767E |
probably benign |
Het |
| Tlr7 |
C |
T |
X: 166,090,830 (GRCm39) |
V219I |
probably benign |
Het |
| Tmprss7 |
A |
G |
16: 45,476,818 (GRCm39) |
S815P |
probably damaging |
Het |
| Trav12-1 |
T |
A |
14: 53,776,017 (GRCm39) |
W57R |
probably damaging |
Het |
| Uxt |
T |
C |
X: 20,826,025 (GRCm39) |
E66G |
possibly damaging |
Het |
| Vmn2r45 |
A |
T |
7: 8,475,369 (GRCm39) |
M553K |
probably damaging |
Het |
| Vmn2r67 |
A |
G |
7: 84,785,951 (GRCm39) |
W685R |
probably benign |
Het |
| Vstm5 |
A |
C |
9: 15,168,962 (GRCm39) |
D144A |
probably damaging |
Het |
| Zfp592 |
A |
G |
7: 80,674,575 (GRCm39) |
H513R |
probably damaging |
Het |
| Zfp830 |
T |
A |
11: 82,656,295 (GRCm39) |
|
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 |
|
IGL01774:Zfp990
|
APN |
4 |
145,263,518 (GRCm39) |
missense |
probably benign |
0.28 |
|
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 |
|
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 |
2015-12-18 |
Incidental Mutation