Incidental Mutation 'R4194:Zfp990'
ID |
318473 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp990
|
Ensembl Gene |
ENSMUSG00000078503 |
Gene Name |
zinc finger protein 990 |
Synonyms |
Gm13225 |
MMRRC Submission |
041025-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.067)
|
Stock # |
R4194 (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% (54/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl1 |
A |
T |
4: 85,972,245 (GRCm39) |
|
probably benign |
Het |
Adgrv1 |
C |
A |
13: 81,647,115 (GRCm39) |
V3142F |
probably damaging |
Het |
Alms1 |
C |
T |
6: 85,654,972 (GRCm39) |
Q3173* |
probably null |
Het |
Ankrd26 |
A |
G |
6: 118,500,639 (GRCm39) |
F944S |
probably benign |
Het |
Arhgap11a |
G |
T |
2: 113,672,339 (GRCm39) |
H210N |
probably benign |
Het |
Brca1 |
T |
C |
11: 101,416,113 (GRCm39) |
N674D |
probably benign |
Het |
Bud13 |
T |
A |
9: 46,209,793 (GRCm39) |
V634E |
probably damaging |
Het |
Capn13 |
C |
T |
17: 73,646,479 (GRCm39) |
M311I |
possibly damaging |
Het |
Cdyl2 |
T |
C |
8: 117,305,903 (GRCm39) |
|
probably null |
Het |
Celsr3 |
T |
C |
9: 108,720,501 (GRCm39) |
|
probably null |
Het |
Col6a5 |
C |
G |
9: 105,823,113 (GRCm39) |
E81D |
unknown |
Het |
Ctbs |
C |
A |
3: 146,156,368 (GRCm39) |
H38N |
probably benign |
Het |
Ctnnd1 |
T |
C |
2: 84,434,045 (GRCm39) |
D897G |
possibly damaging |
Het |
Cyp2d41-ps |
T |
C |
15: 82,666,154 (GRCm39) |
|
noncoding transcript |
Het |
Dnttip2 |
G |
A |
3: 122,074,410 (GRCm39) |
E616K |
probably damaging |
Het |
Epb41l5 |
A |
T |
1: 119,535,823 (GRCm39) |
S348R |
probably damaging |
Het |
Fam185a |
A |
G |
5: 21,630,452 (GRCm39) |
H96R |
probably benign |
Het |
Fbxo11 |
T |
C |
17: 88,316,536 (GRCm39) |
D279G |
possibly damaging |
Het |
Gm3952 |
C |
A |
8: 129,486,346 (GRCm39) |
G1578V |
probably damaging |
Het |
Grb7 |
T |
A |
11: 98,345,881 (GRCm39) |
|
probably benign |
Het |
Grik1 |
A |
G |
16: 87,743,616 (GRCm39) |
V537A |
probably benign |
Het |
H2-Eb2 |
T |
A |
17: 34,552,300 (GRCm39) |
N48K |
probably benign |
Het |
Kank3 |
A |
G |
17: 34,041,237 (GRCm39) |
|
probably benign |
Het |
Kifap3 |
T |
C |
1: 163,743,394 (GRCm39) |
S792P |
probably benign |
Het |
Klhl35 |
A |
T |
7: 99,123,058 (GRCm39) |
|
probably null |
Het |
Lpxn |
T |
C |
19: 12,810,599 (GRCm39) |
F348L |
probably damaging |
Het |
Mef2d |
A |
G |
3: 88,065,610 (GRCm39) |
Y114C |
possibly damaging |
Het |
Mfap3 |
T |
A |
11: 57,420,529 (GRCm39) |
L170H |
probably damaging |
Het |
Mical1 |
C |
G |
10: 41,357,624 (GRCm39) |
F410L |
possibly damaging |
Het |
Mppe1 |
G |
A |
18: 67,361,139 (GRCm39) |
S206F |
probably benign |
Het |
Myo9b |
C |
T |
8: 71,812,268 (GRCm39) |
A2013V |
possibly damaging |
Het |
Phactr3 |
T |
C |
2: 177,924,902 (GRCm39) |
V243A |
possibly damaging |
Het |
Ppp4r4 |
T |
C |
12: 103,524,704 (GRCm39) |
L92P |
probably damaging |
Het |
Prss59 |
A |
T |
6: 40,898,005 (GRCm39) |
V226E |
probably damaging |
Het |
Rap1gds1 |
C |
T |
3: 138,664,851 (GRCm39) |
D236N |
probably damaging |
Het |
Rnf8 |
T |
C |
17: 29,850,642 (GRCm39) |
|
probably benign |
Het |
Rpl31-ps17 |
C |
T |
12: 54,748,434 (GRCm39) |
|
noncoding transcript |
Het |
Sfta2 |
T |
C |
17: 35,939,057 (GRCm39) |
|
probably null |
Het |
Sipa1l2 |
T |
A |
8: 126,218,411 (GRCm39) |
T309S |
probably benign |
Het |
Sos1 |
T |
C |
17: 80,706,013 (GRCm39) |
D1186G |
probably benign |
Het |
Sptb |
C |
A |
12: 76,659,784 (GRCm39) |
V1039F |
probably benign |
Het |
Sycp3 |
T |
C |
10: 88,299,237 (GRCm39) |
V68A |
probably benign |
Het |
Tas1r3 |
T |
C |
4: 155,947,442 (GRCm39) |
E81G |
probably damaging |
Het |
Ttc3 |
G |
A |
16: 94,223,136 (GRCm39) |
R253H |
probably damaging |
Het |
Ugt1a7c |
A |
G |
1: 88,023,449 (GRCm39) |
T203A |
possibly damaging |
Het |
Vtcn1 |
A |
T |
3: 100,795,525 (GRCm39) |
E164V |
probably damaging |
Het |
Zan |
T |
C |
5: 137,461,817 (GRCm39) |
T1121A |
unknown |
Het |
Zfp473 |
T |
C |
7: 44,381,676 (GRCm39) |
I885V |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCCAGGAACACTAAAGAAGTTTGC -3'
(R):5'- ACTACATTTGTGAGGTGTCTCTC -3'
Sequencing Primer
(F):5'- GAAGTTTGCAAATACAATGACTCTG -3'
(R):5'- TGAGGTGTCTCTCCTTTATGAATTC -3'
|
Posted On |
2015-06-10 |