Incidental Mutation 'R6872:Zfp646'
ID |
536212 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp646
|
Ensembl Gene |
ENSMUSG00000049739 |
Gene Name |
zinc finger protein 646 |
Synonyms |
|
MMRRC Submission |
044969-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.251)
|
Stock # |
R6872 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
127476081-127485168 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 127482505 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 1561
(S1561P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000052641
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050383]
[ENSMUST00000121394]
[ENSMUST00000131000]
[ENSMUST00000205300]
|
AlphaFold |
Q6NV66 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000050383
AA Change: S1561P
PolyPhen 2
Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000052641 Gene: ENSMUSG00000049739 AA Change: S1561P
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
8 |
31 |
1.36e-2 |
SMART |
ZnF_C2H2
|
67 |
89 |
5.29e-5 |
SMART |
ZnF_C2H2
|
231 |
253 |
3.21e-4 |
SMART |
ZnF_C2H2
|
258 |
280 |
9.58e-3 |
SMART |
ZnF_C2H2
|
286 |
308 |
2.24e-3 |
SMART |
low complexity region
|
345 |
362 |
N/A |
INTRINSIC |
ZnF_C2H2
|
366 |
388 |
5.42e-2 |
SMART |
ZnF_C2H2
|
393 |
415 |
8.34e-3 |
SMART |
ZnF_C2H2
|
457 |
479 |
5.9e-3 |
SMART |
ZnF_C2H2
|
484 |
506 |
4.87e-4 |
SMART |
ZnF_C2H2
|
566 |
588 |
2.32e-1 |
SMART |
ZnF_C2H2
|
606 |
628 |
6.32e-3 |
SMART |
ZnF_C2H2
|
633 |
655 |
1.53e-1 |
SMART |
low complexity region
|
737 |
750 |
N/A |
INTRINSIC |
low complexity region
|
786 |
797 |
N/A |
INTRINSIC |
ZnF_C2H2
|
806 |
828 |
2.17e-1 |
SMART |
ZnF_C2H2
|
833 |
855 |
3.69e-4 |
SMART |
ZnF_C2H2
|
866 |
889 |
1.16e-1 |
SMART |
low complexity region
|
890 |
911 |
N/A |
INTRINSIC |
ZnF_C2H2
|
941 |
961 |
9.31e1 |
SMART |
ZnF_C2H2
|
1035 |
1057 |
1.95e-3 |
SMART |
ZnF_C2H2
|
1062 |
1084 |
3.39e-3 |
SMART |
low complexity region
|
1149 |
1163 |
N/A |
INTRINSIC |
ZnF_C2H2
|
1170 |
1192 |
1.58e-3 |
SMART |
ZnF_C2H2
|
1197 |
1219 |
5.42e-2 |
SMART |
ZnF_C2H2
|
1225 |
1247 |
3.69e-4 |
SMART |
ZnF_C2H2
|
1266 |
1286 |
5.12e1 |
SMART |
ZnF_C2H2
|
1293 |
1315 |
3.69e-4 |
SMART |
ZnF_C2H2
|
1333 |
1355 |
3.11e-2 |
SMART |
ZnF_C2H2
|
1550 |
1572 |
5.9e-3 |
SMART |
ZnF_C2H2
|
1640 |
1662 |
1.08e-1 |
SMART |
ZnF_C2H2
|
1667 |
1689 |
4.11e-2 |
SMART |
ZnF_C2H2
|
1695 |
1717 |
4.11e-2 |
SMART |
ZnF_C2H2
|
1724 |
1746 |
1.45e-2 |
SMART |
low complexity region
|
1751 |
1764 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000121394
|
SMART Domains |
Protein: ENSMUSP00000112972 Gene: ENSMUSG00000044139
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
Tryp_SPc
|
38 |
268 |
3.91e-45 |
SMART |
Tryp_SPc
|
300 |
520 |
9.95e-29 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000126662
|
SMART Domains |
Protein: ENSMUSP00000123566 Gene: ENSMUSG00000030804
Domain | Start | End | E-Value | Type |
VKc
|
1 |
111 |
8.84e-23 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000131000
|
SMART Domains |
Protein: ENSMUSP00000115499 Gene: ENSMUSG00000049739
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
8 |
31 |
1.36e-2 |
SMART |
ZnF_C2H2
|
67 |
89 |
5.29e-5 |
SMART |
ZnF_C2H2
|
231 |
253 |
3.21e-4 |
SMART |
ZnF_C2H2
|
258 |
280 |
9.58e-3 |
SMART |
ZnF_C2H2
|
286 |
308 |
2.24e-3 |
SMART |
low complexity region
|
345 |
362 |
N/A |
INTRINSIC |
ZnF_C2H2
|
366 |
388 |
5.42e-2 |
SMART |
ZnF_C2H2
|
393 |
415 |
8.34e-3 |
SMART |
ZnF_C2H2
|
457 |
479 |
5.9e-3 |
SMART |
ZnF_C2H2
|
484 |
506 |
4.87e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205300
|
Predicted Effect |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4 |
G |
A |
4: 144,349,750 (GRCm39) |
V336I |
probably benign |
Het |
Aadacl4fm4 |
A |
T |
4: 144,397,216 (GRCm39) |
L172* |
probably null |
Het |
Abcg3 |
T |
C |
5: 105,083,860 (GRCm39) |
T637A |
probably benign |
Het |
Ap3d1 |
G |
A |
10: 80,550,156 (GRCm39) |
R692* |
probably null |
Het |
Aqp2 |
C |
T |
15: 99,481,885 (GRCm39) |
H260Y |
probably benign |
Het |
Btbd2 |
C |
A |
10: 80,480,166 (GRCm39) |
R383L |
probably damaging |
Het |
Ccdc196 |
T |
A |
12: 78,244,141 (GRCm39) |
D31E |
probably damaging |
Het |
Ccdc24 |
T |
C |
4: 117,727,123 (GRCm39) |
T196A |
probably benign |
Het |
Cdc20b |
G |
A |
13: 113,220,509 (GRCm39) |
G463S |
probably damaging |
Het |
Ceacam5 |
A |
T |
7: 17,486,212 (GRCm39) |
R570* |
probably null |
Het |
Col12a1 |
A |
T |
9: 79,584,516 (GRCm39) |
N1357K |
probably damaging |
Het |
Cpa5 |
A |
T |
6: 30,614,053 (GRCm39) |
Q65L |
probably benign |
Het |
Ddo |
A |
C |
10: 40,513,414 (GRCm39) |
M119L |
possibly damaging |
Het |
Dnah8 |
G |
T |
17: 30,981,653 (GRCm39) |
L3058F |
probably damaging |
Het |
Dnajb8 |
A |
G |
6: 88,200,022 (GRCm39) |
N186S |
probably damaging |
Het |
Dock4 |
T |
C |
12: 40,862,325 (GRCm39) |
|
probably null |
Het |
Ear6 |
A |
G |
14: 52,091,885 (GRCm39) |
Y144C |
probably damaging |
Het |
Eng |
T |
A |
2: 32,563,287 (GRCm39) |
I281N |
probably damaging |
Het |
Fgf2 |
A |
G |
3: 37,458,860 (GRCm39) |
K85E |
probably damaging |
Het |
Fubp1 |
A |
T |
3: 151,931,783 (GRCm39) |
Q37L |
probably benign |
Het |
Gabra2 |
G |
T |
5: 71,251,882 (GRCm39) |
P22T |
probably damaging |
Het |
Gm10401 |
T |
C |
5: 115,236,245 (GRCm39) |
|
probably benign |
Het |
Gsdmc |
T |
C |
15: 63,650,556 (GRCm39) |
D275G |
possibly damaging |
Het |
Iglv3 |
A |
G |
16: 19,060,034 (GRCm39) |
I98T |
probably damaging |
Het |
Lmod1 |
G |
T |
1: 135,292,879 (GRCm39) |
R578L |
probably damaging |
Het |
Mindy2 |
A |
G |
9: 70,524,044 (GRCm39) |
|
probably null |
Het |
Neb |
G |
T |
2: 52,183,657 (GRCm39) |
Q1004K |
probably damaging |
Het |
Nkx2-9 |
T |
G |
12: 56,658,674 (GRCm39) |
N180T |
probably benign |
Het |
Nlrp2 |
C |
T |
7: 5,311,709 (GRCm39) |
R922H |
probably benign |
Het |
Nol4l |
T |
C |
2: 153,325,737 (GRCm39) |
E116G |
probably damaging |
Het |
Or1af1 |
A |
T |
2: 37,109,989 (GRCm39) |
M163L |
possibly damaging |
Het |
Or5ac19 |
A |
G |
16: 59,089,961 (GRCm39) |
L23P |
probably benign |
Het |
Pcdhb20 |
A |
C |
18: 37,639,218 (GRCm39) |
E581D |
probably benign |
Het |
Pidd1 |
G |
T |
7: 141,019,331 (GRCm39) |
T750K |
probably benign |
Het |
Rab44 |
A |
G |
17: 29,358,784 (GRCm39) |
E324G |
probably benign |
Het |
Ramp3 |
T |
C |
11: 6,624,768 (GRCm39) |
C21R |
possibly damaging |
Het |
Rpap1 |
A |
C |
2: 119,605,850 (GRCm39) |
M345R |
probably damaging |
Het |
Serpina3k |
A |
C |
12: 104,310,519 (GRCm39) |
K350Q |
probably benign |
Het |
St13 |
C |
T |
15: 81,250,547 (GRCm39) |
|
probably null |
Het |
Stard9 |
A |
T |
2: 120,544,549 (GRCm39) |
K4497* |
probably null |
Het |
Tbx19 |
A |
T |
1: 164,975,202 (GRCm39) |
|
probably null |
Het |
Tgoln1 |
A |
G |
6: 72,592,538 (GRCm39) |
V314A |
possibly damaging |
Het |
Them4 |
A |
T |
3: 94,231,678 (GRCm39) |
I172F |
probably damaging |
Het |
Tmc7 |
T |
A |
7: 118,146,846 (GRCm39) |
Y477F |
probably benign |
Het |
Tmem132a |
A |
G |
19: 10,840,669 (GRCm39) |
L421P |
probably damaging |
Het |
Trim69 |
A |
G |
2: 121,998,391 (GRCm39) |
E121G |
probably damaging |
Het |
Vmn2r11 |
T |
G |
5: 109,194,976 (GRCm39) |
R783S |
possibly damaging |
Het |
Vmn2r62 |
T |
A |
7: 42,438,412 (GRCm39) |
L141F |
probably benign |
Het |
Zbtb7a |
A |
G |
10: 80,983,905 (GRCm39) |
N449S |
possibly damaging |
Het |
Zfhx3 |
C |
T |
8: 109,527,273 (GRCm39) |
R1057W |
probably damaging |
Het |
Zfp180 |
G |
T |
7: 23,805,306 (GRCm39) |
C575F |
probably damaging |
Het |
Zfp462 |
G |
A |
4: 55,012,326 (GRCm39) |
A1431T |
probably benign |
Het |
Zfp592 |
T |
C |
7: 80,673,576 (GRCm39) |
V180A |
probably benign |
Het |
Zfp605 |
C |
T |
5: 110,275,311 (GRCm39) |
P143L |
probably benign |
Het |
Zfp706 |
T |
C |
15: 37,002,190 (GRCm39) |
T46A |
possibly damaging |
Het |
|
Other mutations in Zfp646 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00930:Zfp646
|
APN |
7 |
127,478,302 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL01669:Zfp646
|
APN |
7 |
127,478,137 (GRCm39) |
missense |
probably benign |
|
IGL02571:Zfp646
|
APN |
7 |
127,478,584 (GRCm39) |
missense |
probably damaging |
1.00 |
R0009:Zfp646
|
UTSW |
7 |
127,479,903 (GRCm39) |
missense |
probably damaging |
0.96 |
R0084:Zfp646
|
UTSW |
7 |
127,480,476 (GRCm39) |
missense |
possibly damaging |
0.86 |
R0140:Zfp646
|
UTSW |
7 |
127,482,678 (GRCm39) |
missense |
probably benign |
0.41 |
R0394:Zfp646
|
UTSW |
7 |
127,482,434 (GRCm39) |
missense |
possibly damaging |
0.85 |
R0571:Zfp646
|
UTSW |
7 |
127,481,138 (GRCm39) |
missense |
probably damaging |
0.96 |
R0924:Zfp646
|
UTSW |
7 |
127,482,982 (GRCm39) |
nonsense |
probably null |
|
R0930:Zfp646
|
UTSW |
7 |
127,482,982 (GRCm39) |
nonsense |
probably null |
|
R1219:Zfp646
|
UTSW |
7 |
127,482,292 (GRCm39) |
missense |
probably benign |
|
R1221:Zfp646
|
UTSW |
7 |
127,482,292 (GRCm39) |
missense |
probably benign |
|
R1351:Zfp646
|
UTSW |
7 |
127,482,683 (GRCm39) |
missense |
probably benign |
|
R1370:Zfp646
|
UTSW |
7 |
127,479,036 (GRCm39) |
missense |
probably damaging |
1.00 |
R1503:Zfp646
|
UTSW |
7 |
127,479,308 (GRCm39) |
missense |
probably damaging |
1.00 |
R1605:Zfp646
|
UTSW |
7 |
127,479,359 (GRCm39) |
splice site |
probably null |
|
R1817:Zfp646
|
UTSW |
7 |
127,482,292 (GRCm39) |
missense |
probably benign |
|
R1818:Zfp646
|
UTSW |
7 |
127,482,292 (GRCm39) |
missense |
probably benign |
|
R1819:Zfp646
|
UTSW |
7 |
127,482,292 (GRCm39) |
missense |
probably benign |
|
R1838:Zfp646
|
UTSW |
7 |
127,478,911 (GRCm39) |
missense |
probably damaging |
1.00 |
R1870:Zfp646
|
UTSW |
7 |
127,483,021 (GRCm39) |
missense |
possibly damaging |
0.85 |
R2100:Zfp646
|
UTSW |
7 |
127,481,359 (GRCm39) |
missense |
probably damaging |
1.00 |
R2763:Zfp646
|
UTSW |
7 |
127,479,210 (GRCm39) |
nonsense |
probably null |
|
R4346:Zfp646
|
UTSW |
7 |
127,478,681 (GRCm39) |
missense |
probably damaging |
1.00 |
R4770:Zfp646
|
UTSW |
7 |
127,482,649 (GRCm39) |
missense |
possibly damaging |
0.83 |
R4824:Zfp646
|
UTSW |
7 |
127,482,907 (GRCm39) |
missense |
probably benign |
0.00 |
R4936:Zfp646
|
UTSW |
7 |
127,480,933 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4937:Zfp646
|
UTSW |
7 |
127,478,354 (GRCm39) |
missense |
probably benign |
0.01 |
R5062:Zfp646
|
UTSW |
7 |
127,479,671 (GRCm39) |
missense |
probably damaging |
0.99 |
R5424:Zfp646
|
UTSW |
7 |
127,481,875 (GRCm39) |
missense |
possibly damaging |
0.72 |
R5610:Zfp646
|
UTSW |
7 |
127,478,530 (GRCm39) |
missense |
probably damaging |
1.00 |
R5729:Zfp646
|
UTSW |
7 |
127,484,626 (GRCm39) |
missense |
probably damaging |
0.99 |
R6112:Zfp646
|
UTSW |
7 |
127,478,190 (GRCm39) |
missense |
possibly damaging |
0.71 |
R6161:Zfp646
|
UTSW |
7 |
127,477,897 (GRCm39) |
missense |
probably damaging |
1.00 |
R6310:Zfp646
|
UTSW |
7 |
127,483,079 (GRCm39) |
missense |
probably benign |
0.13 |
R6331:Zfp646
|
UTSW |
7 |
127,482,853 (GRCm39) |
missense |
probably damaging |
0.99 |
R6436:Zfp646
|
UTSW |
7 |
127,479,113 (GRCm39) |
missense |
probably benign |
0.00 |
R6814:Zfp646
|
UTSW |
7 |
127,482,505 (GRCm39) |
missense |
probably benign |
0.17 |
R6903:Zfp646
|
UTSW |
7 |
127,479,892 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7018:Zfp646
|
UTSW |
7 |
127,481,494 (GRCm39) |
missense |
probably benign |
|
R7049:Zfp646
|
UTSW |
7 |
127,479,199 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7121:Zfp646
|
UTSW |
7 |
127,478,944 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7405:Zfp646
|
UTSW |
7 |
127,477,968 (GRCm39) |
nonsense |
probably null |
|
R8345:Zfp646
|
UTSW |
7 |
127,483,082 (GRCm39) |
missense |
probably benign |
0.12 |
R8545:Zfp646
|
UTSW |
7 |
127,484,662 (GRCm39) |
missense |
probably benign |
|
R8909:Zfp646
|
UTSW |
7 |
127,478,515 (GRCm39) |
missense |
probably damaging |
0.99 |
R8983:Zfp646
|
UTSW |
7 |
127,480,777 (GRCm39) |
missense |
probably benign |
|
R9001:Zfp646
|
UTSW |
7 |
127,478,856 (GRCm39) |
missense |
probably damaging |
0.96 |
R9018:Zfp646
|
UTSW |
7 |
127,478,243 (GRCm39) |
missense |
probably benign |
|
R9118:Zfp646
|
UTSW |
7 |
127,480,810 (GRCm39) |
missense |
|
|
R9414:Zfp646
|
UTSW |
7 |
127,481,050 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Zfp646
|
UTSW |
7 |
127,479,804 (GRCm39) |
missense |
probably benign |
0.12 |
|
Predicted Primers |
PCR Primer
(F):5'- GTTGGAAAGGTGCTGACAGC -3'
(R):5'- GTCTTCAGCTGCTGGGAAATG -3'
Sequencing Primer
(F):5'- TGACAGCGGCTCTCAACTC -3'
(R):5'- CAGCTGCTGGGAAATGTATTC -3'
|
Posted On |
2018-10-18 |