Incidental Mutation 'R2097:Zfp990'
| ID |
230307 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp990
|
| Ensembl Gene |
ENSMUSG00000078503 |
| Gene Name |
zinc finger protein 990 |
| Synonyms |
Gm13225 |
| MMRRC Submission |
040101-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R2097 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
145510759-145539188 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 145537322 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 297
(K297E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101368
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105741]
[ENSMUST00000105742]
[ENSMUST00000136309]
|
| AlphaFold |
B1AVN5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105741
AA Change: K297E
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000101367
Gene: ENSMUSG00000078503
AA Change: K297E
| 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 |
possibly damaging
Transcript: ENSMUST00000105742
AA Change: K297E
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000101368
Gene: ENSMUSG00000078503
AA Change: K297E
| 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
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (43/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr8 |
T |
C |
14: 29,987,228 (GRCm38) |
V263A |
probably damaging |
Het |
| Apol6 |
T |
A |
15: 77,047,133 (GRCm38) |
|
probably null |
Het |
| Aqp3 |
C |
T |
4: 41,098,004 (GRCm38) |
V36M |
possibly damaging |
Het |
| Bace1 |
G |
T |
9: 45,860,222 (GRCm38) |
C478F |
probably benign |
Het |
| Bbof1 |
C |
A |
12: 84,413,307 (GRCm38) |
A116D |
probably damaging |
Het |
| Casq1 |
A |
T |
1: 172,210,421 (GRCm38) |
L381Q |
probably damaging |
Het |
| Ccdc138 |
T |
A |
10: 58,561,937 (GRCm38) |
L533* |
probably null |
Het |
| Cdcp3 |
A |
T |
7: 131,181,964 (GRCm38) |
R29* |
probably null |
Het |
| Cnga1 |
C |
T |
5: 72,619,061 (GRCm38) |
V20I |
possibly damaging |
Het |
| Cntn6 |
A |
G |
6: 104,861,949 (GRCm38) |
E988G |
probably damaging |
Het |
| Cts6 |
T |
A |
13: 61,195,445 (GRCm38) |
N321Y |
probably damaging |
Het |
| Dnmt1 |
A |
G |
9: 20,909,788 (GRCm38) |
S1269P |
probably benign |
Het |
| Dsg4 |
C |
A |
18: 20,471,044 (GRCm38) |
P856H |
probably damaging |
Het |
| Fndc3a |
C |
A |
14: 72,574,351 (GRCm38) |
|
probably null |
Het |
| Galc |
T |
C |
12: 98,252,032 (GRCm38) |
D187G |
probably benign |
Het |
| Gfm1 |
T |
C |
3: 67,449,746 (GRCm38) |
I384T |
probably damaging |
Het |
| Hacd2 |
A |
G |
16: 35,048,720 (GRCm38) |
I92V |
probably benign |
Het |
| Hmcn2 |
T |
A |
2: 31,380,419 (GRCm38) |
Y1223N |
probably damaging |
Het |
| Il20ra |
T |
C |
10: 19,759,463 (GRCm38) |
I484T |
probably damaging |
Het |
| Map7 |
G |
T |
10: 20,246,616 (GRCm38) |
V143F |
probably damaging |
Het |
| Mcm3ap |
T |
C |
10: 76,512,489 (GRCm38) |
L1893P |
probably damaging |
Het |
| Msh6 |
A |
G |
17: 87,985,416 (GRCm38) |
N533S |
probably benign |
Het |
| Nbea |
T |
C |
3: 55,723,217 (GRCm38) |
D2233G |
probably damaging |
Het |
| Nlrp6 |
A |
T |
7: 140,923,204 (GRCm38) |
T408S |
probably damaging |
Het |
| Notch3 |
A |
T |
17: 32,122,754 (GRCm38) |
L2008Q |
probably damaging |
Het |
| Odad4 |
T |
A |
11: 100,563,582 (GRCm38) |
F398I |
possibly damaging |
Het |
| Or52e19b |
T |
A |
7: 103,383,633 (GRCm38) |
D123V |
probably damaging |
Het |
| Or8k20 |
A |
T |
2: 86,276,039 (GRCm38) |
Y149* |
probably null |
Het |
| Pggt1b |
T |
C |
18: 46,246,628 (GRCm38) |
N296D |
probably benign |
Het |
| Pglyrp3 |
T |
A |
3: 92,028,171 (GRCm38) |
F243I |
possibly damaging |
Het |
| Phip |
T |
C |
9: 82,915,339 (GRCm38) |
H537R |
possibly damaging |
Het |
| Ptch1 |
T |
G |
13: 63,524,959 (GRCm38) |
E944A |
probably benign |
Het |
| Ptpdc1 |
T |
A |
13: 48,592,659 (GRCm38) |
|
probably null |
Het |
| Ptprq |
T |
C |
10: 107,653,493 (GRCm38) |
T924A |
probably benign |
Het |
| Pwp2 |
C |
A |
10: 78,177,742 (GRCm38) |
|
probably benign |
Het |
| Slc7a4 |
G |
T |
16: 17,573,455 (GRCm38) |
|
probably null |
Het |
| Tmem132b |
T |
A |
5: 125,638,208 (GRCm38) |
I327K |
probably damaging |
Het |
| Trim9 |
T |
C |
12: 70,347,159 (GRCm38) |
M4V |
probably damaging |
Het |
| Tspan13 |
T |
C |
12: 36,021,830 (GRCm38) |
S128G |
probably benign |
Het |
| Zbtb20 |
A |
G |
16: 43,609,519 (GRCm38) |
D131G |
probably null |
Het |
| Zeb2 |
A |
T |
2: 44,997,156 (GRCm38) |
C615S |
probably damaging |
Het |
| Zfp777 |
C |
T |
6: 48,044,242 (GRCm38) |
D149N |
probably benign |
Het |
|
| Other mutations in Zfp990 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00841:Zfp990
|
APN |
4 |
145,537,868 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01774:Zfp990
|
APN |
4 |
145,536,948 (GRCm38) |
missense |
probably benign |
0.28 |
|
IGL01895:Zfp990
|
APN |
4 |
145,536,858 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01895:Zfp990
|
APN |
4 |
145,536,857 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL02349:Zfp990
|
APN |
4 |
145,530,877 (GRCm38) |
utr 5 prime |
probably benign |
|
|
IGL02598:Zfp990
|
APN |
4 |
145,536,963 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
IGL02940:Zfp990
|
APN |
4 |
145,534,922 (GRCm38) |
splice site |
probably null |
|
|
IGL03026:Zfp990
|
APN |
4 |
145,537,110 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
R0007:Zfp990
|
UTSW |
4 |
145,537,438 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0352:Zfp990
|
UTSW |
4 |
145,536,604 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0631:Zfp990
|
UTSW |
4 |
145,537,302 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R1490:Zfp990
|
UTSW |
4 |
145,537,283 (GRCm38) |
missense |
probably benign |
0.44 |
|
R1537:Zfp990
|
UTSW |
4 |
145,536,996 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R1832:Zfp990
|
UTSW |
4 |
145,538,210 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R1956:Zfp990
|
UTSW |
4 |
145,534,882 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1982:Zfp990
|
UTSW |
4 |
145,536,869 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2024:Zfp990
|
UTSW |
4 |
145,537,404 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R2235:Zfp990
|
UTSW |
4 |
145,537,891 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4194:Zfp990
|
UTSW |
4 |
145,536,977 (GRCm38) |
splice site |
probably null |
|
|
R4195:Zfp990
|
UTSW |
4 |
145,536,977 (GRCm38) |
splice site |
probably null |
|
|
R4418:Zfp990
|
UTSW |
4 |
145,536,728 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R4617:Zfp990
|
UTSW |
4 |
145,537,046 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R4736:Zfp990
|
UTSW |
4 |
145,536,942 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4880:Zfp990
|
UTSW |
4 |
145,537,920 (GRCm38) |
missense |
probably benign |
|
|
R4941:Zfp990
|
UTSW |
4 |
145,536,837 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5014:Zfp990
|
UTSW |
4 |
145,538,099 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R5945:Zfp990
|
UTSW |
4 |
145,538,043 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6238:Zfp990
|
UTSW |
4 |
145,537,913 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6255:Zfp990
|
UTSW |
4 |
145,537,789 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6267:Zfp990
|
UTSW |
4 |
145,538,103 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R6296:Zfp990
|
UTSW |
4 |
145,538,103 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R6412:Zfp990
|
UTSW |
4 |
145,537,568 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6616:Zfp990
|
UTSW |
4 |
145,537,145 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6701:Zfp990
|
UTSW |
4 |
145,538,178 (GRCm38) |
missense |
probably benign |
0.45 |
|
R6720:Zfp990
|
UTSW |
4 |
145,536,927 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R7015:Zfp990
|
UTSW |
4 |
145,536,635 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7487:Zfp990
|
UTSW |
4 |
145,537,587 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7722:Zfp990
|
UTSW |
4 |
145,536,962 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R8749:Zfp990
|
UTSW |
4 |
145,537,586 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R8785:Zfp990
|
UTSW |
4 |
145,537,676 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9161:Zfp990
|
UTSW |
4 |
145,534,939 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R9211:Zfp990
|
UTSW |
4 |
145,537,601 (GRCm38) |
missense |
probably damaging |
0.98 |
|
Z1176:Zfp990
|
UTSW |
4 |
145,536,811 (GRCm38) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCGAAATGCAGAATTAGAGAAGGTT -3'
(R):5'- ACATTCACTGCATTTGTAAGGTTT -3'
Sequencing Primer
(F):5'- CAGATCCATCTTAGTATTCATCAGGG -3'
(R):5'- GTAAGGTTTCTCTCCTGTATGAATTC -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation