Incidental Mutation 'R2324:Zfp988'
| ID |
328535 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp988
|
| Ensembl Gene |
ENSMUSG00000078498 |
| Gene Name |
zinc finger protein 988 |
| Synonyms |
Gm13151 |
| MMRRC Submission |
040315-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.161)
|
| Stock # |
R2324 (G1)
|
| Quality Score |
20 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
147390131-147418191 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 147417242 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamine
at position 559
(K559Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120413
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000148762]
[ENSMUST00000166764]
|
| AlphaFold |
F6VKC7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148762
AA Change: K559Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000120413
Gene: ENSMUSG00000078498
AA Change: K559Q
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
13 |
76 |
4.74e-16 |
SMART |
|
ZnF_C2H2
|
240 |
262 |
2.61e-4 |
SMART |
|
ZnF_C2H2
|
268 |
290 |
1.3e-4 |
SMART |
|
ZnF_C2H2
|
296 |
318 |
9.73e-4 |
SMART |
|
ZnF_C2H2
|
324 |
346 |
7.78e-3 |
SMART |
|
ZnF_C2H2
|
352 |
374 |
1.3e-4 |
SMART |
|
ZnF_C2H2
|
380 |
402 |
8.34e-3 |
SMART |
|
ZnF_C2H2
|
408 |
430 |
2.79e-4 |
SMART |
|
ZnF_C2H2
|
436 |
458 |
3.74e-5 |
SMART |
|
ZnF_C2H2
|
464 |
486 |
1.3e-4 |
SMART |
|
ZnF_C2H2
|
492 |
514 |
1.5e-4 |
SMART |
|
ZnF_C2H2
|
520 |
542 |
2.43e-4 |
SMART |
|
ZnF_C2H2
|
548 |
570 |
9.73e-4 |
SMART |
|
ZnF_C2H2
|
576 |
598 |
1.56e-2 |
SMART |
|
ZnF_C2H2
|
604 |
626 |
2.53e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166764
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181084
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181486
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181752
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
100% (33/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akna |
T |
C |
4: 63,290,039 (GRCm39) |
D1223G |
possibly damaging |
Het |
| Ankrd42 |
C |
A |
7: 92,273,186 (GRCm39) |
R147L |
probably damaging |
Het |
| Cdhr18 |
A |
T |
14: 13,868,077 (GRCm38) |
I204N |
probably damaging |
Het |
| Cep152 |
T |
C |
2: 125,405,382 (GRCm39) |
I1717V |
probably benign |
Het |
| Clca3a2 |
A |
G |
3: 144,512,041 (GRCm39) |
|
probably null |
Het |
| Coa8 |
A |
G |
12: 111,690,784 (GRCm39) |
E112G |
possibly damaging |
Het |
| Dnhd1 |
A |
T |
7: 105,359,297 (GRCm39) |
H3544L |
probably damaging |
Het |
| Dpy19l4 |
T |
C |
4: 11,276,857 (GRCm39) |
|
probably benign |
Het |
| Efcab8 |
A |
G |
2: 153,625,729 (GRCm39) |
|
probably null |
Het |
| Esyt2 |
A |
G |
12: 116,331,441 (GRCm39) |
N773S |
possibly damaging |
Het |
| Hectd4 |
G |
A |
5: 121,453,500 (GRCm39) |
G613D |
probably damaging |
Het |
| Ints12 |
G |
A |
3: 132,815,126 (GRCm39) |
M444I |
possibly damaging |
Het |
| Ints3 |
A |
G |
3: 90,301,401 (GRCm39) |
L827P |
probably damaging |
Het |
| Irf9 |
T |
C |
14: 55,843,367 (GRCm39) |
|
probably null |
Het |
| Lactb2 |
T |
C |
1: 13,708,520 (GRCm39) |
D176G |
probably damaging |
Het |
| Lmntd2 |
A |
T |
7: 140,790,701 (GRCm39) |
S516T |
possibly damaging |
Het |
| Lrp1 |
C |
A |
10: 127,402,455 (GRCm39) |
A2239S |
possibly damaging |
Het |
| Lrrc56 |
A |
G |
7: 140,785,476 (GRCm39) |
|
probably benign |
Het |
| Nfic |
A |
G |
10: 81,241,921 (GRCm39) |
|
probably null |
Het |
| Notch3 |
G |
A |
17: 32,369,108 (GRCm39) |
|
probably benign |
Het |
| Oas2 |
T |
C |
5: 120,881,339 (GRCm39) |
K251E |
probably benign |
Het |
| Or5k15 |
T |
C |
16: 58,710,503 (GRCm39) |
T27A |
probably benign |
Het |
| Pabpc4 |
T |
C |
4: 123,191,571 (GRCm39) |
|
probably benign |
Het |
| Piwil4 |
C |
T |
9: 14,648,204 (GRCm39) |
R125H |
possibly damaging |
Het |
| Rbsn |
A |
G |
6: 92,170,947 (GRCm39) |
Y325H |
probably damaging |
Het |
| Rhox2e |
C |
A |
X: 36,712,516 (GRCm39) |
P69Q |
probably damaging |
Het |
| Skint6 |
T |
C |
4: 112,729,654 (GRCm39) |
|
probably null |
Het |
| Tmem165 |
T |
C |
5: 76,352,671 (GRCm39) |
|
probably benign |
Het |
| Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
| Ttc13 |
A |
G |
8: 125,405,796 (GRCm39) |
V499A |
probably damaging |
Het |
| Vax2 |
G |
T |
6: 83,688,307 (GRCm39) |
R10L |
possibly damaging |
Het |
|
| Other mutations in Zfp988 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02282:Zfp988
|
APN |
4 |
147,416,125 (GRCm39) |
nonsense |
probably null |
|
|
R1672:Zfp988
|
UTSW |
4 |
147,415,739 (GRCm39) |
missense |
probably benign |
|
|
R1834:Zfp988
|
UTSW |
4 |
147,417,344 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2380:Zfp988
|
UTSW |
4 |
147,417,242 (GRCm39) |
missense |
probably benign |
|
|
R3795:Zfp988
|
UTSW |
4 |
147,416,040 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R3945:Zfp988
|
UTSW |
4 |
147,417,242 (GRCm39) |
missense |
probably benign |
|
|
R4024:Zfp988
|
UTSW |
4 |
147,417,242 (GRCm39) |
missense |
probably benign |
|
|
R5012:Zfp988
|
UTSW |
4 |
147,416,060 (GRCm39) |
missense |
probably benign |
|
|
R5059:Zfp988
|
UTSW |
4 |
147,416,372 (GRCm39) |
nonsense |
probably null |
|
|
R6008:Zfp988
|
UTSW |
4 |
147,416,259 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6245:Zfp988
|
UTSW |
4 |
147,416,470 (GRCm39) |
nonsense |
probably null |
|
|
R6549:Zfp988
|
UTSW |
4 |
147,416,310 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7658:Zfp988
|
UTSW |
4 |
147,416,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8309:Zfp988
|
UTSW |
4 |
147,416,765 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8439:Zfp988
|
UTSW |
4 |
147,416,808 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9159:Zfp988
|
UTSW |
4 |
147,416,450 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTTACAAATGCAATGAATGTGGC -3'
(R):5'- TCACTGTTACAGTCTAGGAAATAGGCC -3'
Sequencing Primer
(F):5'- GCAATGAATGTGGCAAATGCTTTAC -3'
(R):5'- TGAATACCAAGATGGAATTTTCGGG -3'
|
| Posted On |
2015-07-15 |
Incidental Mutation