Incidental Mutation 'R4195:Zfp990'
ID |
318529 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp990
|
Ensembl Gene |
ENSMUSG00000078503 |
Gene Name |
zinc finger protein 990 |
Synonyms |
Gm13225 |
MMRRC Submission |
041026-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.067)
|
Stock # |
R4195 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
145237329-145265751 bp(+) (GRCm39) |
Type of Mutation |
splice site (2058 bp from exon) |
DNA Base Change (assembly) |
A to T
at 145263547 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: N182Y
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000101367 Gene: ENSMUSG00000078503 AA Change: N182Y
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: N182Y
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000101368 Gene: ENSMUSG00000078503 AA Change: N182Y
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
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
98% (40/41) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acmsd |
T |
G |
1: 127,676,931 (GRCm39) |
L152R |
probably damaging |
Het |
Actg2 |
T |
G |
6: 83,500,155 (GRCm39) |
T39P |
probably damaging |
Het |
Agap1 |
A |
G |
1: 89,762,261 (GRCm39) |
E531G |
probably damaging |
Het |
Alox12b |
A |
G |
11: 69,060,426 (GRCm39) |
S661G |
probably benign |
Het |
Apod |
T |
C |
16: 31,116,392 (GRCm39) |
M113V |
probably benign |
Het |
Atl3 |
A |
G |
19: 7,495,911 (GRCm39) |
I171V |
possibly damaging |
Het |
Atrn |
C |
A |
2: 130,775,332 (GRCm39) |
T145K |
probably damaging |
Het |
Cacna1f |
A |
G |
X: 7,475,169 (GRCm39) |
H57R |
probably damaging |
Het |
Cdhr18 |
C |
A |
14: 13,829,772 (GRCm38) |
V657L |
probably benign |
Het |
Cldn9 |
T |
C |
17: 23,902,148 (GRCm39) |
E159G |
probably damaging |
Het |
Cnnm4 |
C |
A |
1: 36,538,589 (GRCm39) |
H590Q |
probably benign |
Het |
Col19a1 |
G |
A |
1: 24,573,133 (GRCm39) |
S213L |
unknown |
Het |
Cse1l |
A |
G |
2: 166,771,899 (GRCm39) |
T387A |
probably damaging |
Het |
Eif4enif1 |
T |
C |
11: 3,193,186 (GRCm39) |
V675A |
possibly damaging |
Het |
Fbll1 |
A |
G |
11: 35,688,493 (GRCm39) |
S257P |
possibly damaging |
Het |
Fbll1 |
T |
A |
11: 35,688,699 (GRCm39) |
H188L |
possibly damaging |
Het |
Frem2 |
A |
G |
3: 53,446,689 (GRCm39) |
F2360L |
possibly damaging |
Het |
G3bp2 |
A |
G |
5: 92,203,275 (GRCm39) |
S349P |
probably damaging |
Het |
Gm2396 |
A |
G |
9: 88,799,715 (GRCm39) |
|
noncoding transcript |
Het |
Gm6569 |
C |
T |
15: 73,708,092 (GRCm39) |
P22L |
probably damaging |
Het |
Itih2 |
T |
C |
2: 10,120,096 (GRCm39) |
N314D |
probably damaging |
Het |
Lman2l |
A |
C |
1: 36,464,022 (GRCm39) |
I266M |
probably damaging |
Het |
Mrps9 |
T |
G |
1: 42,940,254 (GRCm39) |
|
probably benign |
Het |
Mtmr11 |
T |
C |
3: 96,075,207 (GRCm39) |
|
probably benign |
Het |
Neb |
G |
T |
2: 52,161,571 (GRCm39) |
R2074S |
probably damaging |
Het |
Neb |
A |
T |
2: 52,180,847 (GRCm39) |
H1226Q |
probably damaging |
Het |
Nmi |
A |
C |
2: 51,838,632 (GRCm39) |
S301A |
probably benign |
Het |
Or11i1 |
A |
T |
3: 106,729,328 (GRCm39) |
C182* |
probably null |
Het |
Pclo |
A |
G |
5: 14,727,577 (GRCm39) |
|
probably benign |
Het |
Pkd1l1 |
T |
A |
11: 8,859,929 (GRCm39) |
I560F |
probably damaging |
Het |
Polr1e |
T |
C |
4: 45,019,327 (GRCm39) |
Y59H |
probably damaging |
Het |
Slc30a4 |
G |
A |
2: 122,527,190 (GRCm39) |
T401M |
probably damaging |
Het |
Tas1r3 |
T |
C |
4: 155,947,442 (GRCm39) |
E81G |
probably damaging |
Het |
Zzz3 |
A |
G |
3: 152,134,102 (GRCm39) |
T387A |
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCCAGGAACACTAAAGAAGTTTG -3'
(R):5'- ACATTTGTGAGGTGTCTCTCC -3'
Sequencing Primer
(F):5'- GAAGTTTGCAAATACAATGACTCTG -3'
(R):5'- TGAGGTGTCTCTCCTTTATGAATTC -3'
|
Posted On |
2015-06-10 |