Incidental Mutation 'R3797:Zfp934'
| ID |
272809 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp934
|
| Ensembl Gene |
ENSMUSG00000074865 |
| Gene Name |
zinc finger protein 934 |
| Synonyms |
6720457D02Rik |
| MMRRC Submission |
040758-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.126)
|
| Stock # |
R3797 (G1)
|
| Quality Score |
175 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
62664609-62727170 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 62665702 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 313
(K313R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152492
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076195]
[ENSMUST00000082203]
[ENSMUST00000101547]
[ENSMUST00000220648]
[ENSMUST00000221250]
[ENSMUST00000222429]
[ENSMUST00000222746]
[ENSMUST00000222852]
|
| AlphaFold |
K7N6H3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076195
|
| SMART Domains |
Protein: ENSMUSP00000075552
Gene: ENSMUSG00000055228
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
4 |
66 |
8.26e-16 |
SMART |
|
ZnF_C2H2
|
133 |
155 |
2.09e-3 |
SMART |
|
ZnF_C2H2
|
161 |
183 |
1.4e-4 |
SMART |
|
ZnF_C2H2
|
189 |
211 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
217 |
239 |
5.5e-3 |
SMART |
|
ZnF_C2H2
|
245 |
267 |
7.26e-3 |
SMART |
|
ZnF_C2H2
|
273 |
295 |
1.4e-4 |
SMART |
|
ZnF_C2H2
|
301 |
323 |
8.6e-5 |
SMART |
|
ZnF_C2H2
|
329 |
351 |
1.2e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000082203
|
| SMART Domains |
Protein: ENSMUSP00000080837
Gene: ENSMUSG00000074865
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:KRAB
|
1 |
34 |
3e-16 |
BLAST |
|
ZnF_C2H2
|
101 |
123 |
1.04e-3 |
SMART |
|
ZnF_C2H2
|
129 |
149 |
1.68e1 |
SMART |
|
ZnF_C2H2
|
157 |
179 |
2.75e-3 |
SMART |
|
ZnF_C2H2
|
185 |
207 |
1.98e-4 |
SMART |
|
ZnF_C2H2
|
213 |
235 |
3.21e-4 |
SMART |
|
ZnF_C2H2
|
241 |
263 |
3.44e-4 |
SMART |
|
ZnF_C2H2
|
269 |
292 |
4.98e-1 |
SMART |
|
ZnF_C2H2
|
298 |
320 |
4.87e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101547
AA Change: K345R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000099083
Gene: ENSMUSG00000074865
AA Change: K345R
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
3 |
65 |
5.01e-15 |
SMART |
|
ZnF_C2H2
|
132 |
154 |
1.04e-3 |
SMART |
|
ZnF_C2H2
|
160 |
180 |
1.68e1 |
SMART |
|
ZnF_C2H2
|
188 |
210 |
2.75e-3 |
SMART |
|
ZnF_C2H2
|
216 |
238 |
1.98e-4 |
SMART |
|
ZnF_C2H2
|
244 |
266 |
3.21e-4 |
SMART |
|
ZnF_C2H2
|
272 |
294 |
3.44e-4 |
SMART |
|
ZnF_C2H2
|
300 |
322 |
2.27e-4 |
SMART |
|
ZnF_C2H2
|
328 |
350 |
3.44e-4 |
SMART |
|
ZnF_C2H2
|
356 |
378 |
9.22e-5 |
SMART |
|
ZnF_C2H2
|
384 |
406 |
2.43e-4 |
SMART |
|
ZnF_C2H2
|
412 |
434 |
1.3e-4 |
SMART |
|
ZnF_C2H2
|
440 |
462 |
4.87e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220648
AA Change: K313R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221250
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221494
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222429
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222746
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222852
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (39/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf3 |
T |
C |
5: 30,401,821 (GRCm39) |
I736V |
possibly damaging |
Het |
| Alpk3 |
C |
A |
7: 80,742,501 (GRCm39) |
P773T |
probably benign |
Het |
| B4galt1 |
G |
A |
4: 40,807,258 (GRCm39) |
T376I |
probably benign |
Het |
| Basp1 |
C |
A |
15: 25,364,398 (GRCm39) |
|
probably benign |
Het |
| Capn5 |
C |
T |
7: 97,775,036 (GRCm39) |
G535R |
probably null |
Het |
| Ccdc170 |
G |
A |
10: 4,510,920 (GRCm39) |
V660I |
possibly damaging |
Het |
| Cdc73 |
A |
T |
1: 143,553,461 (GRCm39) |
D215E |
probably benign |
Het |
| Clec14a |
G |
A |
12: 58,314,695 (GRCm39) |
A309V |
probably benign |
Het |
| Clns1a |
G |
A |
7: 97,346,042 (GRCm39) |
G36R |
probably benign |
Het |
| Cops7a |
C |
T |
6: 124,936,795 (GRCm39) |
R252H |
probably damaging |
Het |
| Csmd2 |
C |
T |
4: 128,411,388 (GRCm39) |
P2469S |
probably benign |
Het |
| Dsp |
T |
A |
13: 38,361,260 (GRCm39) |
|
probably null |
Het |
| Eif3d |
A |
G |
15: 77,852,769 (GRCm39) |
F4S |
probably damaging |
Het |
| Ephb1 |
T |
C |
9: 101,848,466 (GRCm39) |
T611A |
probably damaging |
Het |
| Fam43b |
G |
C |
4: 138,122,409 (GRCm39) |
R304G |
probably benign |
Het |
| Fgfr1 |
G |
A |
8: 26,062,453 (GRCm39) |
D663N |
probably damaging |
Het |
| Gm5592 |
G |
A |
7: 40,807,259 (GRCm39) |
|
probably benign |
Het |
| Itgb8 |
T |
C |
12: 119,127,204 (GRCm39) |
I683M |
possibly damaging |
Het |
| Kcnip3 |
A |
G |
2: 127,323,934 (GRCm39) |
S32P |
probably benign |
Het |
| Limch1 |
A |
G |
5: 67,126,422 (GRCm39) |
T8A |
probably damaging |
Het |
| Lmf1 |
G |
A |
17: 25,873,445 (GRCm39) |
V317M |
probably damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,669,625 (GRCm39) |
Q1455R |
probably damaging |
Het |
| Mtarc2 |
T |
C |
1: 184,573,505 (GRCm39) |
E131G |
possibly damaging |
Het |
| Or51v14 |
C |
T |
7: 103,260,654 (GRCm39) |
R302Q |
probably benign |
Het |
| Pak5 |
T |
C |
2: 135,942,746 (GRCm39) |
I465V |
probably benign |
Het |
| Pcdhgb8 |
T |
C |
18: 37,895,728 (GRCm39) |
I266T |
probably benign |
Het |
| Pde4d |
T |
C |
13: 109,769,431 (GRCm39) |
S40P |
probably benign |
Het |
| Phrf1 |
C |
T |
7: 140,839,831 (GRCm39) |
R243* |
probably null |
Het |
| Polk |
A |
T |
13: 96,623,490 (GRCm39) |
|
probably benign |
Het |
| Ppl |
T |
C |
16: 4,922,414 (GRCm39) |
|
probably benign |
Het |
| Rab11fip3 |
A |
G |
17: 26,287,500 (GRCm39) |
C218R |
possibly damaging |
Het |
| Setd2 |
T |
C |
9: 110,378,639 (GRCm39) |
V818A |
probably benign |
Het |
| Skida1 |
C |
A |
2: 18,050,708 (GRCm39) |
E815* |
probably null |
Het |
| Slc35g3 |
A |
G |
11: 69,651,743 (GRCm39) |
F103L |
probably benign |
Het |
| Svil |
T |
A |
18: 5,060,534 (GRCm39) |
C802S |
probably benign |
Het |
| Trim7 |
A |
G |
11: 48,736,497 (GRCm39) |
|
probably null |
Het |
| Ugt3a1 |
G |
A |
15: 9,310,727 (GRCm39) |
W336* |
probably null |
Het |
| Vmn2r72 |
T |
C |
7: 85,387,285 (GRCm39) |
S760G |
probably benign |
Het |
| Vps13a |
T |
C |
19: 16,723,311 (GRCm39) |
|
probably null |
Het |
| Wdfy4 |
A |
T |
14: 32,862,602 (GRCm39) |
I590N |
probably damaging |
Het |
| Xdh |
T |
C |
17: 74,214,653 (GRCm39) |
E764G |
probably damaging |
Het |
| Xpnpep1 |
A |
T |
19: 52,994,773 (GRCm39) |
V285D |
probably benign |
Het |
|
| Other mutations in Zfp934 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1915:Zfp934
|
UTSW |
13 |
62,665,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1957:Zfp934
|
UTSW |
13 |
62,666,108 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R2113:Zfp934
|
UTSW |
13 |
62,666,507 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2145:Zfp934
|
UTSW |
13 |
62,665,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3732:Zfp934
|
UTSW |
13 |
62,665,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4326:Zfp934
|
UTSW |
13 |
62,665,373 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4327:Zfp934
|
UTSW |
13 |
62,665,373 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4909:Zfp934
|
UTSW |
13 |
62,665,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5236:Zfp934
|
UTSW |
13 |
62,665,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5237:Zfp934
|
UTSW |
13 |
62,665,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6305:Zfp934
|
UTSW |
13 |
62,666,370 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6729:Zfp934
|
UTSW |
13 |
62,640,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7072:Zfp934
|
UTSW |
13 |
62,668,339 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7186:Zfp934
|
UTSW |
13 |
62,640,204 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7235:Zfp934
|
UTSW |
13 |
62,665,964 (GRCm39) |
missense |
|
|
|
R7453:Zfp934
|
UTSW |
13 |
62,666,517 (GRCm39) |
missense |
probably benign |
0.40 |
|
R7552:Zfp934
|
UTSW |
13 |
62,640,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7589:Zfp934
|
UTSW |
13 |
62,666,130 (GRCm39) |
missense |
|
|
|
R7624:Zfp934
|
UTSW |
13 |
62,666,338 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7651:Zfp934
|
UTSW |
13 |
62,666,327 (GRCm39) |
missense |
probably benign |
|
|
R7780:Zfp934
|
UTSW |
13 |
62,666,358 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7857:Zfp934
|
UTSW |
13 |
62,665,361 (GRCm39) |
missense |
|
|
|
R7891:Zfp934
|
UTSW |
13 |
62,668,003 (GRCm39) |
missense |
probably benign |
0.35 |
|
R8130:Zfp934
|
UTSW |
13 |
62,667,985 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8298:Zfp934
|
UTSW |
13 |
62,666,295 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGGTTTCTCTCCAGTATGTGTTCT -3'
(R):5'- GAGAGAAACCCTACAAATGTGATC -3'
Sequencing Primer
(F):5'- CTGTATTGAGAAAAGGCTTTATCGC -3'
(R):5'- ACCCTACAAATGTGATCAATGTG -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation