Incidental Mutation 'R6412:Zfp990'
| ID |
514621 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp990
|
| Ensembl Gene |
ENSMUSG00000078503 |
| Gene Name |
zinc finger protein 990 |
| Synonyms |
Gm13225 |
| MMRRC Submission |
044385-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R6412 (G1)
|
| Quality Score |
82.0076 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
145237329-145265751 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 145264138 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Threonine
at position 379
(P379T)
|
| 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: P379T
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000101367
Gene: ENSMUSG00000078503
AA Change: P379T
| 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: P379T
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000101368
Gene: ENSMUSG00000078503
AA Change: P379T
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl11 |
A |
G |
9: 107,807,116 (GRCm39) |
I480V |
probably benign |
Het |
| BC025920 |
T |
C |
10: 81,445,195 (GRCm39) |
V106A |
probably benign |
Het |
| Bhlhe23 |
A |
G |
2: 180,417,963 (GRCm39) |
F192L |
possibly damaging |
Het |
| Cftr |
C |
T |
6: 18,285,603 (GRCm39) |
T1137I |
probably damaging |
Het |
| Chst8 |
T |
C |
7: 34,375,504 (GRCm39) |
M112V |
probably benign |
Het |
| Cilk1 |
T |
C |
9: 78,047,258 (GRCm39) |
S53P |
probably damaging |
Het |
| Fbxw26 |
T |
A |
9: 109,561,715 (GRCm39) |
M160L |
probably damaging |
Het |
| Gm3264 |
A |
G |
14: 16,058,238 (GRCm39) |
K81R |
probably damaging |
Het |
| Htr3b |
T |
C |
9: 48,857,819 (GRCm39) |
N141S |
possibly damaging |
Het |
| Itgb2l |
T |
C |
16: 96,228,929 (GRCm39) |
S425G |
probably benign |
Het |
| Kbtbd12 |
T |
C |
6: 88,595,638 (GRCm39) |
E64G |
probably damaging |
Het |
| Lct |
T |
C |
1: 128,255,455 (GRCm39) |
T196A |
probably benign |
Het |
| Luzp2 |
T |
C |
7: 54,707,794 (GRCm39) |
S61P |
probably damaging |
Het |
| Or4b1b |
G |
T |
2: 90,112,202 (GRCm39) |
A239D |
probably damaging |
Het |
| Or5l14 |
A |
T |
2: 87,792,693 (GRCm39) |
L181Q |
probably damaging |
Het |
| Rag1 |
A |
G |
2: 101,472,865 (GRCm39) |
V759A |
probably damaging |
Het |
| Ret |
C |
T |
6: 118,161,245 (GRCm39) |
R77H |
probably benign |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Sbno1 |
T |
C |
5: 124,530,777 (GRCm39) |
T840A |
probably damaging |
Het |
| Skic2 |
A |
G |
17: 35,059,276 (GRCm39) |
V1057A |
possibly damaging |
Het |
| Spocd1 |
C |
T |
4: 129,847,365 (GRCm39) |
S518L |
probably benign |
Het |
| Thbs2 |
A |
C |
17: 14,897,339 (GRCm39) |
L723R |
probably damaging |
Het |
| Vmn1r223 |
G |
T |
13: 23,433,825 (GRCm39) |
V140F |
probably benign |
Het |
| Vmn2r52 |
A |
G |
7: 9,904,936 (GRCm39) |
V301A |
probably benign |
Het |
| Vwf |
T |
C |
6: 125,656,279 (GRCm39) |
F2615L |
probably benign |
Het |
| Wdr81 |
G |
T |
11: 75,341,989 (GRCm39) |
P1093T |
probably benign |
Het |
| Xdh |
T |
C |
17: 74,242,902 (GRCm39) |
E135G |
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 |
|
|
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 |
|
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'- TGCTTTACCCGAAAATTCCATCTTG -3'
(R):5'- TTGAGTAAAGCATTTGTCACATCCA -3'
Sequencing Primer
(F):5'- ACCCGAAAATTCCATCTTGGTATTC -3'
(R):5'- GTCACATCCACTGCATTTGTAAGG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation