Incidental Mutation 'R2329:Zfp932'
ID |
245791 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp932
|
Ensembl Gene |
ENSMUSG00000066613 |
Gene Name |
zinc finger protein 932 |
Synonyms |
2310001H12Rik |
MMRRC Submission |
040320-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.078)
|
Stock # |
R2329 (G1)
|
Quality Score |
185 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
110144387-110158277 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 110157406 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 368
(H368L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140446
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099484]
[ENSMUST00000112536]
[ENSMUST00000112540]
[ENSMUST00000125213]
[ENSMUST00000143639]
[ENSMUST00000187241]
|
AlphaFold |
E9QAG8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000099484
|
SMART Domains |
Protein: ENSMUSP00000097083 Gene: ENSMUSG00000066613
Domain | Start | End | E-Value | Type |
KRAB
|
5 |
61 |
1.74e-14 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000112536
AA Change: H335L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000108155 Gene: ENSMUSG00000066613 AA Change: H335L
Domain | Start | End | E-Value | Type |
Blast:KRAB
|
1 |
31 |
5e-12 |
BLAST |
ZnF_C2H2
|
71 |
93 |
1.1e-2 |
SMART |
ZnF_C2H2
|
99 |
121 |
5.21e-4 |
SMART |
ZnF_C2H2
|
127 |
149 |
3.39e-3 |
SMART |
ZnF_C2H2
|
155 |
177 |
1.76e-1 |
SMART |
ZnF_C2H2
|
183 |
205 |
1.3e-4 |
SMART |
ZnF_C2H2
|
211 |
233 |
1.1e-2 |
SMART |
ZnF_C2H2
|
239 |
261 |
2.27e-4 |
SMART |
ZnF_C2H2
|
267 |
289 |
1.84e-4 |
SMART |
ZnF_C2H2
|
295 |
317 |
5.21e-4 |
SMART |
ZnF_C2H2
|
323 |
345 |
9.73e-4 |
SMART |
ZnF_C2H2
|
351 |
373 |
1.58e-3 |
SMART |
ZnF_C2H2
|
379 |
401 |
1.58e-3 |
SMART |
ZnF_C2H2
|
407 |
429 |
5.14e-3 |
SMART |
ZnF_C2H2
|
435 |
457 |
2.61e-4 |
SMART |
ZnF_C2H2
|
463 |
485 |
2.43e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000112540
AA Change: H368L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000108159 Gene: ENSMUSG00000066613 AA Change: H368L
Domain | Start | End | E-Value | Type |
KRAB
|
5 |
61 |
1.74e-14 |
SMART |
ZnF_C2H2
|
104 |
126 |
1.1e-2 |
SMART |
ZnF_C2H2
|
132 |
154 |
5.21e-4 |
SMART |
ZnF_C2H2
|
160 |
182 |
3.39e-3 |
SMART |
ZnF_C2H2
|
188 |
210 |
1.76e-1 |
SMART |
ZnF_C2H2
|
216 |
238 |
1.3e-4 |
SMART |
ZnF_C2H2
|
244 |
266 |
1.1e-2 |
SMART |
ZnF_C2H2
|
272 |
294 |
2.27e-4 |
SMART |
ZnF_C2H2
|
300 |
322 |
1.84e-4 |
SMART |
ZnF_C2H2
|
328 |
350 |
5.21e-4 |
SMART |
ZnF_C2H2
|
356 |
378 |
9.73e-4 |
SMART |
ZnF_C2H2
|
384 |
406 |
1.58e-3 |
SMART |
ZnF_C2H2
|
412 |
434 |
1.58e-3 |
SMART |
ZnF_C2H2
|
440 |
462 |
5.14e-3 |
SMART |
ZnF_C2H2
|
468 |
490 |
2.61e-4 |
SMART |
ZnF_C2H2
|
496 |
518 |
2.43e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125213
|
SMART Domains |
Protein: ENSMUSP00000119843 Gene: ENSMUSG00000066613
Domain | Start | End | E-Value | Type |
Blast:KRAB
|
1 |
34 |
2e-14 |
BLAST |
ZnF_C2H2
|
71 |
93 |
1.1e-2 |
SMART |
ZnF_C2H2
|
99 |
121 |
5.21e-4 |
SMART |
ZnF_C2H2
|
127 |
149 |
3.39e-3 |
SMART |
ZnF_C2H2
|
155 |
177 |
1.76e-1 |
SMART |
Pfam:zf-C2H2_6
|
182 |
191 |
7.3e-1 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143639
|
SMART Domains |
Protein: ENSMUSP00000121749 Gene: ENSMUSG00000066613
Domain | Start | End | E-Value | Type |
KRAB
|
4 |
60 |
1.74e-14 |
SMART |
ZnF_C2H2
|
103 |
125 |
1.1e-2 |
SMART |
ZnF_C2H2
|
131 |
153 |
5.21e-4 |
SMART |
ZnF_C2H2
|
159 |
181 |
3.39e-3 |
SMART |
ZnF_C2H2
|
187 |
209 |
1.76e-1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000187241
AA Change: H368L
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000140446 Gene: ENSMUSG00000066613 AA Change: H368L
Domain | Start | End | E-Value | Type |
KRAB
|
5 |
61 |
7.1e-17 |
SMART |
ZnF_C2H2
|
104 |
126 |
4.8e-5 |
SMART |
ZnF_C2H2
|
132 |
154 |
2.2e-6 |
SMART |
ZnF_C2H2
|
160 |
182 |
1.5e-5 |
SMART |
ZnF_C2H2
|
188 |
210 |
7.2e-4 |
SMART |
ZnF_C2H2
|
216 |
238 |
5.4e-7 |
SMART |
ZnF_C2H2
|
244 |
266 |
4.5e-5 |
SMART |
ZnF_C2H2
|
272 |
294 |
9.2e-7 |
SMART |
ZnF_C2H2
|
300 |
322 |
7.5e-7 |
SMART |
ZnF_C2H2
|
328 |
350 |
2.1e-6 |
SMART |
ZnF_C2H2
|
356 |
378 |
4e-6 |
SMART |
ZnF_C2H2
|
384 |
406 |
6.5e-6 |
SMART |
ZnF_C2H2
|
412 |
434 |
6.9e-6 |
SMART |
ZnF_C2H2
|
440 |
462 |
2.1e-5 |
SMART |
ZnF_C2H2
|
468 |
490 |
1.1e-6 |
SMART |
ZnF_C2H2
|
496 |
518 |
1.1e-6 |
SMART |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
A |
C |
13: 77,451,444 (GRCm39) |
S843R |
probably benign |
Het |
Adamts15 |
G |
T |
9: 30,813,781 (GRCm39) |
R795S |
probably damaging |
Het |
Adora2a |
T |
A |
10: 75,162,017 (GRCm39) |
V52E |
probably damaging |
Het |
Amph |
T |
A |
13: 19,323,520 (GRCm39) |
L594Q |
probably benign |
Het |
Batf3 |
A |
T |
1: 190,840,646 (GRCm39) |
|
probably null |
Het |
Ccdc146 |
C |
T |
5: 21,513,610 (GRCm39) |
|
probably null |
Het |
Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
Csn3 |
A |
G |
5: 88,077,862 (GRCm39) |
T123A |
possibly damaging |
Het |
Cspg4 |
A |
G |
9: 56,795,834 (GRCm39) |
T1190A |
probably benign |
Het |
Dab2 |
C |
A |
15: 6,459,044 (GRCm39) |
Q298K |
possibly damaging |
Het |
Dpp6 |
T |
C |
5: 27,656,286 (GRCm39) |
|
probably null |
Het |
Efcab6 |
C |
T |
15: 83,834,249 (GRCm39) |
R453Q |
possibly damaging |
Het |
Ern2 |
C |
T |
7: 121,772,710 (GRCm39) |
M610I |
possibly damaging |
Het |
Fnip1 |
A |
G |
11: 54,356,933 (GRCm39) |
D38G |
probably damaging |
Het |
Fosb |
T |
C |
7: 19,041,110 (GRCm39) |
T128A |
probably benign |
Het |
Gad2 |
G |
A |
2: 22,558,301 (GRCm39) |
V340M |
probably damaging |
Het |
Gm19684 |
T |
A |
17: 36,439,345 (GRCm39) |
|
probably benign |
Het |
Gstk1 |
T |
A |
6: 42,223,848 (GRCm39) |
D86E |
possibly damaging |
Het |
Hus1 |
A |
G |
11: 8,957,492 (GRCm39) |
|
probably null |
Het |
Kbtbd8 |
T |
C |
6: 95,103,761 (GRCm39) |
I547T |
probably benign |
Het |
Mrpl38 |
T |
A |
11: 116,022,845 (GRCm39) |
H373L |
possibly damaging |
Het |
Nostrin |
A |
T |
2: 68,991,438 (GRCm39) |
T144S |
probably damaging |
Het |
Prl8a6 |
T |
C |
13: 27,621,050 (GRCm39) |
H60R |
probably benign |
Het |
Ros1 |
A |
G |
10: 52,038,983 (GRCm39) |
I329T |
probably damaging |
Het |
Scd2 |
T |
A |
19: 44,286,492 (GRCm39) |
Y107* |
probably null |
Het |
Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
Slc34a3 |
T |
C |
2: 25,119,422 (GRCm39) |
T483A |
possibly damaging |
Het |
Slc35c1 |
A |
T |
2: 92,289,040 (GRCm39) |
Y155* |
probably null |
Het |
Susd1 |
T |
C |
4: 59,379,715 (GRCm39) |
D304G |
possibly damaging |
Het |
Taf5 |
C |
T |
19: 47,063,563 (GRCm39) |
S371L |
probably benign |
Het |
Tenm4 |
A |
G |
7: 96,545,069 (GRCm39) |
T2362A |
probably benign |
Het |
Tsg101 |
A |
T |
7: 46,540,868 (GRCm39) |
D158E |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,599,786 (GRCm39) |
P19102S |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,608,412 (GRCm39) |
V17837A |
probably damaging |
Het |
Uhrf1 |
C |
A |
17: 56,617,671 (GRCm39) |
|
probably null |
Het |
Ulk4 |
C |
T |
9: 121,101,953 (GRCm39) |
E42K |
probably damaging |
Het |
Vmn1r184 |
A |
T |
7: 25,966,387 (GRCm39) |
L44F |
probably damaging |
Het |
|
Other mutations in Zfp932 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0153:Zfp932
|
UTSW |
5 |
110,154,834 (GRCm39) |
missense |
probably benign |
0.27 |
R0268:Zfp932
|
UTSW |
5 |
110,156,929 (GRCm39) |
missense |
probably benign |
0.24 |
R1673:Zfp932
|
UTSW |
5 |
110,156,854 (GRCm39) |
missense |
probably damaging |
1.00 |
R1797:Zfp932
|
UTSW |
5 |
110,144,489 (GRCm39) |
start gained |
probably benign |
|
R1893:Zfp932
|
UTSW |
5 |
110,157,069 (GRCm39) |
missense |
possibly damaging |
0.71 |
R1942:Zfp932
|
UTSW |
5 |
110,154,853 (GRCm39) |
missense |
probably damaging |
1.00 |
R2073:Zfp932
|
UTSW |
5 |
110,157,684 (GRCm39) |
missense |
possibly damaging |
0.60 |
R2076:Zfp932
|
UTSW |
5 |
110,157,334 (GRCm39) |
missense |
probably benign |
0.01 |
R3944:Zfp932
|
UTSW |
5 |
110,157,820 (GRCm39) |
missense |
probably benign |
0.37 |
R4551:Zfp932
|
UTSW |
5 |
110,157,505 (GRCm39) |
missense |
probably benign |
0.03 |
R4679:Zfp932
|
UTSW |
5 |
110,157,760 (GRCm39) |
missense |
probably damaging |
1.00 |
R4692:Zfp932
|
UTSW |
5 |
110,157,052 (GRCm39) |
missense |
probably damaging |
1.00 |
R5116:Zfp932
|
UTSW |
5 |
110,157,242 (GRCm39) |
missense |
probably benign |
0.05 |
R5260:Zfp932
|
UTSW |
5 |
110,157,501 (GRCm39) |
nonsense |
probably null |
|
R5536:Zfp932
|
UTSW |
5 |
110,157,713 (GRCm39) |
nonsense |
probably null |
|
R6351:Zfp932
|
UTSW |
5 |
110,157,209 (GRCm39) |
nonsense |
probably null |
|
R6786:Zfp932
|
UTSW |
5 |
110,157,606 (GRCm39) |
missense |
probably damaging |
0.98 |
R6843:Zfp932
|
UTSW |
5 |
110,156,581 (GRCm39) |
missense |
probably benign |
0.02 |
R7437:Zfp932
|
UTSW |
5 |
110,157,880 (GRCm39) |
missense |
probably benign |
0.10 |
R7496:Zfp932
|
UTSW |
5 |
110,156,694 (GRCm39) |
missense |
probably damaging |
0.97 |
R7704:Zfp932
|
UTSW |
5 |
110,157,630 (GRCm39) |
missense |
probably benign |
0.09 |
R8224:Zfp932
|
UTSW |
5 |
110,144,480 (GRCm39) |
start gained |
probably benign |
|
R8317:Zfp932
|
UTSW |
5 |
110,156,922 (GRCm39) |
nonsense |
probably null |
|
R8765:Zfp932
|
UTSW |
5 |
110,154,827 (GRCm39) |
missense |
probably benign |
0.01 |
R8967:Zfp932
|
UTSW |
5 |
110,156,883 (GRCm39) |
missense |
probably benign |
0.00 |
R9083:Zfp932
|
UTSW |
5 |
110,157,100 (GRCm39) |
missense |
probably damaging |
1.00 |
R9142:Zfp932
|
UTSW |
5 |
110,157,520 (GRCm39) |
missense |
probably damaging |
1.00 |
R9511:Zfp932
|
UTSW |
5 |
110,155,177 (GRCm39) |
missense |
possibly damaging |
0.46 |
R9533:Zfp932
|
UTSW |
5 |
110,157,787 (GRCm39) |
missense |
probably damaging |
1.00 |
R9640:Zfp932
|
UTSW |
5 |
110,157,064 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GTGGTAAAGCCTTTGCCTCTCA -3'
(R):5'- AGGCTTTACCACATTGATCACAT -3'
Sequencing Primer
(F):5'- AGCCTTTGCCTCTCATGATAAATTTC -3'
(R):5'- GCAAGGGCTTTACCACATTG -3'
|
Posted On |
2014-10-30 |