Incidental Mutation 'R2360:Zfp984'
| ID |
247102 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp984
|
| Ensembl Gene |
ENSMUSG00000078495 |
| Gene Name |
zinc finger protein 984 |
| Synonyms |
Gm13157 |
| MMRRC Submission |
040342-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.461)
|
| Stock # |
R2360 (G1)
|
| Quality Score |
127 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
147838431-147894245 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 147839234 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 539
(I539T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114023
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105734]
[ENSMUST00000122309]
|
| AlphaFold |
A2A7A2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105734
AA Change: I539T
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000101360
Gene: ENSMUSG00000078495
AA Change: I539T
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
13 |
72 |
5.24e-18 |
SMART |
|
ZnF_C2H2
|
238 |
260 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
266 |
288 |
1.18e-2 |
SMART |
|
ZnF_C2H2
|
294 |
316 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
322 |
344 |
1.58e-3 |
SMART |
|
ZnF_C2H2
|
350 |
372 |
4.24e-4 |
SMART |
|
ZnF_C2H2
|
378 |
400 |
3.69e-4 |
SMART |
|
ZnF_C2H2
|
406 |
428 |
1.58e-3 |
SMART |
|
ZnF_C2H2
|
434 |
456 |
3.39e-3 |
SMART |
|
ZnF_C2H2
|
462 |
484 |
1.3e-4 |
SMART |
|
ZnF_C2H2
|
490 |
512 |
1.4e-4 |
SMART |
|
ZnF_C2H2
|
518 |
540 |
4.79e-3 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000122309
AA Change: I539T
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000114023
Gene: ENSMUSG00000078495
AA Change: I539T
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
13 |
72 |
5.24e-18 |
SMART |
|
ZnF_C2H2
|
238 |
260 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
266 |
288 |
1.18e-2 |
SMART |
|
ZnF_C2H2
|
294 |
316 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
322 |
344 |
1.58e-3 |
SMART |
|
ZnF_C2H2
|
350 |
372 |
4.24e-4 |
SMART |
|
ZnF_C2H2
|
378 |
400 |
3.69e-4 |
SMART |
|
ZnF_C2H2
|
406 |
428 |
1.58e-3 |
SMART |
|
ZnF_C2H2
|
434 |
456 |
3.39e-3 |
SMART |
|
ZnF_C2H2
|
462 |
484 |
1.3e-4 |
SMART |
|
ZnF_C2H2
|
490 |
512 |
1.4e-4 |
SMART |
|
ZnF_C2H2
|
518 |
540 |
4.79e-3 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
93% (37/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432E11Rik |
A |
T |
7: 29,274,214 (GRCm39) |
|
noncoding transcript |
Het |
| Abca14 |
A |
G |
7: 119,850,431 (GRCm39) |
E761G |
probably benign |
Het |
| Apc |
C |
T |
18: 34,394,179 (GRCm39) |
T35I |
probably damaging |
Het |
| Arhgef2 |
T |
A |
3: 88,541,723 (GRCm39) |
I228N |
probably damaging |
Het |
| Atp6v1g2 |
A |
G |
17: 35,456,638 (GRCm39) |
E74G |
probably damaging |
Het |
| Ccdc70 |
A |
G |
8: 22,463,447 (GRCm39) |
E79G |
probably damaging |
Het |
| Cdc42ep4 |
A |
G |
11: 113,619,528 (GRCm39) |
S288P |
probably damaging |
Het |
| Cip2a |
C |
T |
16: 48,837,828 (GRCm39) |
Q843* |
probably null |
Het |
| Cpn2 |
T |
C |
16: 30,078,321 (GRCm39) |
D460G |
probably benign |
Het |
| Crtam |
A |
G |
9: 40,884,811 (GRCm39) |
*393Q |
probably null |
Het |
| Cwc22 |
A |
G |
2: 77,757,591 (GRCm39) |
I179T |
probably damaging |
Het |
| Cyp3a41b |
T |
C |
5: 145,507,221 (GRCm39) |
M240V |
probably benign |
Het |
| Dnah8 |
A |
T |
17: 30,896,178 (GRCm39) |
D864V |
probably benign |
Het |
| Map3k7 |
T |
C |
4: 31,964,302 (GRCm39) |
S14P |
unknown |
Het |
| Med25 |
A |
G |
7: 44,534,566 (GRCm39) |
S150P |
probably damaging |
Het |
| Mex3b |
T |
C |
7: 82,517,070 (GRCm39) |
V71A |
probably benign |
Het |
| Morc3 |
T |
C |
16: 93,638,275 (GRCm39) |
L19S |
probably damaging |
Het |
| Morn1 |
T |
A |
4: 155,176,770 (GRCm39) |
S98T |
probably damaging |
Het |
| Mthfd1l |
G |
T |
10: 4,006,771 (GRCm39) |
A678S |
probably damaging |
Het |
| Napa |
A |
G |
7: 15,848,083 (GRCm39) |
Y200C |
probably damaging |
Het |
| Nr5a2 |
T |
C |
1: 136,876,565 (GRCm39) |
I33V |
probably benign |
Het |
| Or14j6 |
A |
G |
17: 38,215,345 (GRCm39) |
K303E |
possibly damaging |
Het |
| Pcnx1 |
A |
G |
12: 81,996,960 (GRCm39) |
D952G |
probably damaging |
Het |
| Phf20l1 |
G |
A |
15: 66,466,769 (GRCm39) |
R66Q |
probably damaging |
Het |
| Resf1 |
A |
G |
6: 149,236,145 (GRCm39) |
I1488M |
probably benign |
Het |
| Rfk |
A |
G |
19: 17,375,960 (GRCm39) |
T85A |
probably benign |
Het |
| Sbno2 |
T |
C |
10: 79,893,855 (GRCm39) |
D1179G |
possibly damaging |
Het |
| Serpina3k |
C |
T |
12: 104,307,166 (GRCm39) |
Q133* |
probably null |
Het |
| Setd4 |
T |
C |
16: 93,383,122 (GRCm39) |
|
probably benign |
Het |
| Sh2d4b |
C |
T |
14: 40,582,548 (GRCm39) |
|
probably null |
Het |
| Slc1a6 |
G |
A |
10: 78,648,718 (GRCm39) |
V480I |
possibly damaging |
Het |
| Slc39a3 |
A |
T |
10: 80,867,104 (GRCm39) |
V214E |
possibly damaging |
Het |
| Tll1 |
A |
G |
8: 64,504,435 (GRCm39) |
Y654H |
probably damaging |
Het |
| Traf3ip1 |
T |
A |
1: 91,427,374 (GRCm39) |
C115S |
unknown |
Het |
| Vmn1r209 |
T |
A |
13: 22,989,836 (GRCm39) |
I285F |
probably damaging |
Het |
| Vmn2r87 |
G |
T |
10: 130,315,631 (GRCm39) |
T145K |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,394,388 (GRCm39) |
T4484A |
unknown |
Het |
| Zfp768 |
T |
C |
7: 126,943,810 (GRCm39) |
E106G |
probably benign |
Het |
|
| Other mutations in Zfp984 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00428:Zfp984
|
APN |
4 |
147,839,343 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00469:Zfp984
|
APN |
4 |
147,839,343 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00550:Zfp984
|
APN |
4 |
147,839,343 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4791001:Zfp984
|
UTSW |
4 |
147,840,603 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0281:Zfp984
|
UTSW |
4 |
147,839,722 (GRCm39) |
missense |
probably benign |
|
|
R0731:Zfp984
|
UTSW |
4 |
147,840,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1170:Zfp984
|
UTSW |
4 |
147,840,446 (GRCm39) |
missense |
probably benign |
0.24 |
|
R1293:Zfp984
|
UTSW |
4 |
147,840,398 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1518:Zfp984
|
UTSW |
4 |
147,840,002 (GRCm39) |
missense |
probably benign |
|
|
R2041:Zfp984
|
UTSW |
4 |
147,839,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5038:Zfp984
|
UTSW |
4 |
147,839,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5554:Zfp984
|
UTSW |
4 |
147,840,362 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6254:Zfp984
|
UTSW |
4 |
147,840,643 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R6418:Zfp984
|
UTSW |
4 |
147,845,703 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6527:Zfp984
|
UTSW |
4 |
147,840,381 (GRCm39) |
missense |
probably benign |
0.45 |
|
R6974:Zfp984
|
UTSW |
4 |
147,845,707 (GRCm39) |
start codon destroyed |
possibly damaging |
0.94 |
|
R7058:Zfp984
|
UTSW |
4 |
147,840,002 (GRCm39) |
missense |
probably benign |
|
|
R7495:Zfp984
|
UTSW |
4 |
147,839,287 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7843:Zfp984
|
UTSW |
4 |
147,842,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8462:Zfp984
|
UTSW |
4 |
147,839,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8520:Zfp984
|
UTSW |
4 |
147,840,668 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8918:Zfp984
|
UTSW |
4 |
147,840,623 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9387:Zfp984
|
UTSW |
4 |
147,840,002 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Zfp984
|
UTSW |
4 |
147,839,921 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Zfp984
|
UTSW |
4 |
147,840,577 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAATGCATGAGTTAAGTTTCTAGCC -3'
(R):5'- AGTGAATGTGACAAATGCTTTACCC -3'
Sequencing Primer
(F):5'- CATGAGTTAAGTTTCTAGCCTGTAAG -3'
(R):5'- GTGACAAATGCTTTACCCAAAAATC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation