Incidental Mutation 'IGL01895:Zfp990'
ID |
179350 |
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 # |
IGL01895
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
145237329-145265751 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 145263428 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Asparagine
at position 142
(T142N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101368
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105741]
[ENSMUST00000105742]
[ENSMUST00000136309]
|
AlphaFold |
B1AVN5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000105741
AA Change: T142N
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000101367 Gene: ENSMUSG00000078503 AA Change: T142N
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: T142N
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000101368 Gene: ENSMUSG00000078503 AA Change: T142N
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc6 |
A |
T |
7: 45,678,482 (GRCm39) |
I56N |
possibly damaging |
Het |
Akr1c13 |
A |
T |
13: 4,255,372 (GRCm39) |
E321V |
possibly damaging |
Het |
Atp8b3 |
A |
T |
10: 80,357,662 (GRCm39) |
V1119D |
possibly damaging |
Het |
Cacna1e |
G |
T |
1: 154,319,646 (GRCm39) |
F1351L |
probably damaging |
Het |
Cadps2 |
A |
G |
6: 23,427,274 (GRCm39) |
W585R |
probably damaging |
Het |
Ccdc113 |
C |
T |
8: 96,263,086 (GRCm39) |
|
probably benign |
Het |
Ccer1 |
A |
T |
10: 97,529,912 (GRCm39) |
I192F |
unknown |
Het |
Chd8 |
T |
C |
14: 52,436,551 (GRCm39) |
N90S |
probably benign |
Het |
Clca3a1 |
A |
T |
3: 144,453,333 (GRCm39) |
C463* |
probably null |
Het |
Cplane1 |
T |
A |
15: 8,258,591 (GRCm39) |
V2279E |
possibly damaging |
Het |
Cyp2c65 |
T |
A |
19: 39,060,676 (GRCm39) |
C179S |
possibly damaging |
Het |
Dennd4b |
A |
G |
3: 90,182,874 (GRCm39) |
Q35R |
probably benign |
Het |
Enpep |
T |
C |
3: 129,063,983 (GRCm39) |
E928G |
possibly damaging |
Het |
Fem1c |
T |
C |
18: 46,638,629 (GRCm39) |
T458A |
probably benign |
Het |
Fezf2 |
A |
T |
14: 12,342,498 (GRCm38) |
*456R |
probably null |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
Iqcm |
T |
G |
8: 76,615,188 (GRCm39) |
L423R |
probably damaging |
Het |
Kcnc4 |
C |
A |
3: 107,355,534 (GRCm39) |
V305L |
probably benign |
Het |
Kif1a |
G |
A |
1: 92,953,455 (GRCm39) |
T1337I |
possibly damaging |
Het |
Lpxn |
A |
G |
19: 12,810,450 (GRCm39) |
D298G |
probably damaging |
Het |
Lypd8 |
A |
G |
11: 58,281,046 (GRCm39) |
T203A |
possibly damaging |
Het |
Mrps28 |
C |
T |
3: 8,965,119 (GRCm39) |
V107M |
probably damaging |
Het |
Myo15b |
A |
G |
11: 115,774,324 (GRCm39) |
E586G |
possibly damaging |
Het |
Pdzk1 |
C |
T |
3: 96,776,417 (GRCm39) |
A459V |
possibly damaging |
Het |
Rbpj |
A |
G |
5: 53,808,728 (GRCm39) |
D285G |
probably damaging |
Het |
Rimbp3 |
T |
C |
16: 17,029,300 (GRCm39) |
L908P |
probably damaging |
Het |
Samd4b |
T |
C |
7: 28,101,334 (GRCm39) |
|
probably null |
Het |
Slc28a2b |
A |
C |
2: 122,355,572 (GRCm39) |
Y588S |
possibly damaging |
Het |
Stau2 |
C |
T |
1: 16,416,161 (GRCm39) |
G401S |
probably damaging |
Het |
Trpa1 |
A |
T |
1: 14,957,867 (GRCm39) |
I697K |
possibly damaging |
Het |
Ttc17 |
A |
C |
2: 94,205,491 (GRCm39) |
V285G |
possibly damaging |
Het |
Unc5b |
A |
G |
10: 60,602,864 (GRCm39) |
F845S |
probably damaging |
Het |
Vmn1r19 |
A |
T |
6: 57,382,245 (GRCm39) |
Q266L |
probably benign |
Het |
Vmn2r106 |
T |
C |
17: 20,499,227 (GRCm39) |
N228S |
probably benign |
Het |
Vps13d |
A |
G |
4: 144,882,836 (GRCm39) |
F919S |
possibly damaging |
Het |
Zbtb38 |
C |
T |
9: 96,570,461 (GRCm39) |
V208I |
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 |
145,263,427 (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 |
2014-05-07 |