Incidental Mutation 'R2906:Zfp995'
ID |
261673 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp995
|
Ensembl Gene |
ENSMUSG00000078546 |
Gene Name |
zinc finger protein 995 |
Synonyms |
2210404O09Rik |
MMRRC Submission |
040493-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
R2906 (G1)
|
Quality Score |
206 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
22098551-22128907 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 22099247 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 329
(D329G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139581
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106026]
[ENSMUST00000190066]
|
AlphaFold |
E9Q6M3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000106026
AA Change: D329G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000101647 Gene: ENSMUSG00000078546 AA Change: D329G
Domain | Start | End | E-Value | Type |
KRAB
|
13 |
76 |
8.19e-20 |
SMART |
ZnF_C2H2
|
183 |
205 |
8.81e-2 |
SMART |
ZnF_C2H2
|
211 |
233 |
3.21e-4 |
SMART |
ZnF_C2H2
|
239 |
261 |
4.72e-2 |
SMART |
ZnF_C2H2
|
267 |
289 |
1.98e-4 |
SMART |
ZnF_C2H2
|
295 |
317 |
5.59e-4 |
SMART |
ZnF_C2H2
|
323 |
345 |
4.24e-4 |
SMART |
ZnF_C2H2
|
351 |
373 |
9.73e-4 |
SMART |
ZnF_C2H2
|
379 |
401 |
5.29e-5 |
SMART |
ZnF_C2H2
|
407 |
429 |
8.02e-5 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190066
AA Change: D329G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000139581 Gene: ENSMUSG00000078546 AA Change: D329G
Domain | Start | End | E-Value | Type |
KRAB
|
13 |
76 |
8.19e-20 |
SMART |
ZnF_C2H2
|
183 |
205 |
8.81e-2 |
SMART |
ZnF_C2H2
|
211 |
233 |
3.21e-4 |
SMART |
ZnF_C2H2
|
239 |
261 |
4.72e-2 |
SMART |
ZnF_C2H2
|
267 |
289 |
1.98e-4 |
SMART |
ZnF_C2H2
|
295 |
317 |
5.59e-4 |
SMART |
ZnF_C2H2
|
323 |
345 |
4.24e-4 |
SMART |
ZnF_C2H2
|
351 |
373 |
9.73e-4 |
SMART |
ZnF_C2H2
|
379 |
401 |
5.29e-5 |
SMART |
ZnF_C2H2
|
407 |
429 |
8.02e-5 |
SMART |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.2%
|
Validation Efficiency |
97% (37/38) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam32 |
A |
T |
8: 25,353,520 (GRCm39) |
W690R |
probably damaging |
Het |
Adgrg6 |
A |
G |
10: 14,308,694 (GRCm39) |
I800T |
probably benign |
Het |
Afg3l2 |
G |
A |
18: 67,573,292 (GRCm39) |
T170M |
probably damaging |
Het |
Ap1b1 |
T |
A |
11: 4,981,641 (GRCm39) |
N516K |
probably damaging |
Het |
Armcx6 |
A |
T |
X: 133,650,199 (GRCm39) |
C211S |
probably damaging |
Het |
Atp7b |
G |
A |
8: 22,501,570 (GRCm39) |
T781I |
probably damaging |
Het |
Cd96 |
T |
C |
16: 45,871,850 (GRCm39) |
T432A |
possibly damaging |
Het |
Col13a1 |
T |
C |
10: 61,696,267 (GRCm39) |
|
probably benign |
Het |
Ddx4 |
G |
T |
13: 112,757,311 (GRCm39) |
|
probably benign |
Het |
Dnm1l |
A |
T |
16: 16,132,175 (GRCm39) |
S666T |
probably damaging |
Het |
Duoxa1 |
C |
T |
2: 122,135,155 (GRCm39) |
V197M |
probably benign |
Het |
Gm6430 |
A |
T |
1: 96,952,554 (GRCm39) |
|
noncoding transcript |
Het |
Gtf2a1l |
G |
A |
17: 89,002,083 (GRCm39) |
R313H |
possibly damaging |
Het |
Gucy2c |
A |
T |
6: 136,685,385 (GRCm39) |
V852E |
probably damaging |
Het |
Kcnk1 |
G |
T |
8: 126,722,538 (GRCm39) |
V114L |
probably benign |
Het |
Klra3 |
G |
T |
6: 130,310,302 (GRCm39) |
Q73K |
probably damaging |
Het |
Lax1 |
A |
T |
1: 133,616,643 (GRCm39) |
M1K |
probably null |
Het |
Lce1k |
T |
C |
3: 92,713,882 (GRCm39) |
S101G |
unknown |
Het |
Med12l |
T |
C |
3: 59,164,503 (GRCm39) |
L1365P |
probably damaging |
Het |
Mtx2 |
T |
C |
2: 74,697,253 (GRCm39) |
S83P |
probably damaging |
Het |
Naip2 |
A |
C |
13: 100,298,504 (GRCm39) |
C511G |
probably damaging |
Het |
Nefh |
A |
G |
11: 4,890,216 (GRCm39) |
I801T |
probably benign |
Het |
Or8g24 |
A |
G |
9: 38,989,669 (GRCm39) |
V124A |
probably benign |
Het |
Oxct2b |
A |
G |
4: 123,010,823 (GRCm39) |
I248V |
probably benign |
Het |
Pcdhgb2 |
A |
T |
18: 37,823,908 (GRCm39) |
I300F |
probably damaging |
Het |
Ptprc |
G |
A |
1: 137,992,272 (GRCm39) |
A1285V |
possibly damaging |
Het |
Rassf3 |
A |
G |
10: 121,250,297 (GRCm39) |
L172P |
probably damaging |
Het |
Rbm26 |
T |
A |
14: 105,380,270 (GRCm39) |
T516S |
probably benign |
Het |
Rpusd1 |
T |
C |
17: 25,949,705 (GRCm39) |
S292P |
probably benign |
Het |
Scamp5 |
A |
G |
9: 57,351,146 (GRCm39) |
V172A |
probably damaging |
Het |
Snx25 |
T |
C |
8: 46,502,560 (GRCm39) |
|
probably null |
Het |
Tmprss11g |
A |
G |
5: 86,640,661 (GRCm39) |
|
probably benign |
Het |
Ttll3 |
G |
C |
6: 113,369,471 (GRCm39) |
|
probably benign |
Het |
Uggt2 |
C |
T |
14: 119,256,919 (GRCm39) |
S1105N |
probably benign |
Het |
Usp45 |
T |
A |
4: 21,834,338 (GRCm39) |
Y805* |
probably null |
Het |
Zfp639 |
T |
C |
3: 32,573,900 (GRCm39) |
L175P |
probably damaging |
Het |
|
Other mutations in Zfp995 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01800:Zfp995
|
APN |
17 |
22,099,972 (GRCm39) |
missense |
possibly damaging |
0.64 |
experienced
|
UTSW |
17 |
22,106,321 (GRCm39) |
start codon destroyed |
probably damaging |
0.98 |
R2906_Zfp995_673
|
UTSW |
17 |
22,099,247 (GRCm39) |
missense |
probably benign |
0.00 |
wise
|
UTSW |
17 |
22,099,493 (GRCm39) |
missense |
probably benign |
0.06 |
R1164:Zfp995
|
UTSW |
17 |
22,098,960 (GRCm39) |
missense |
probably damaging |
1.00 |
R1167:Zfp995
|
UTSW |
17 |
22,098,960 (GRCm39) |
missense |
probably damaging |
1.00 |
R1592:Zfp995
|
UTSW |
17 |
22,106,321 (GRCm39) |
start codon destroyed |
probably damaging |
0.98 |
R1669:Zfp995
|
UTSW |
17 |
22,098,945 (GRCm39) |
missense |
probably benign |
0.12 |
R1883:Zfp995
|
UTSW |
17 |
22,099,622 (GRCm39) |
missense |
probably benign |
0.00 |
R2044:Zfp995
|
UTSW |
17 |
22,099,575 (GRCm39) |
missense |
probably damaging |
1.00 |
R4454:Zfp995
|
UTSW |
17 |
22,098,932 (GRCm39) |
missense |
probably benign |
0.17 |
R4670:Zfp995
|
UTSW |
17 |
22,106,320 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
R5265:Zfp995
|
UTSW |
17 |
22,099,604 (GRCm39) |
missense |
possibly damaging |
0.55 |
R5393:Zfp995
|
UTSW |
17 |
22,099,473 (GRCm39) |
missense |
probably benign |
0.01 |
R5585:Zfp995
|
UTSW |
17 |
22,106,339 (GRCm39) |
splice site |
probably benign |
|
R5735:Zfp995
|
UTSW |
17 |
22,101,010 (GRCm39) |
missense |
probably benign |
0.05 |
R6243:Zfp995
|
UTSW |
17 |
22,099,269 (GRCm39) |
missense |
probably damaging |
1.00 |
R6318:Zfp995
|
UTSW |
17 |
22,099,493 (GRCm39) |
missense |
probably benign |
0.06 |
R7311:Zfp995
|
UTSW |
17 |
22,099,641 (GRCm39) |
missense |
probably benign |
0.01 |
R7472:Zfp995
|
UTSW |
17 |
22,099,181 (GRCm39) |
missense |
probably damaging |
1.00 |
R7529:Zfp995
|
UTSW |
17 |
22,099,333 (GRCm39) |
nonsense |
probably null |
|
R7765:Zfp995
|
UTSW |
17 |
22,100,984 (GRCm39) |
missense |
probably damaging |
1.00 |
R8156:Zfp995
|
UTSW |
17 |
22,099,115 (GRCm39) |
missense |
probably damaging |
1.00 |
R8995:Zfp995
|
UTSW |
17 |
22,099,172 (GRCm39) |
missense |
probably benign |
0.00 |
Z1176:Zfp995
|
UTSW |
17 |
22,101,035 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
Predicted Primers |
PCR Primer
(F):5'- GCACATGTCACATTCACATTTGTAA -3'
(R):5'- AATGTTCCAAATGTTTTGCCCA -3'
Sequencing Primer
(F):5'- ACTCTCTGGTGGACATTAAGACTGC -3'
(R):5'- CCAAATGTTTTGCCCAGAAATGCTG -3'
|
Posted On |
2015-01-23 |