Incidental Mutation 'R9414:Zfp646'
ID |
711943 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp646
|
Ensembl Gene |
ENSMUSG00000049739 |
Gene Name |
zinc finger protein 646 |
Synonyms |
|
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.251)
|
Stock # |
R9414 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
127476081-127485168 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 127481050 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 1076
(A1076T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000052641
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050383]
[ENSMUST00000121394]
[ENSMUST00000131000]
[ENSMUST00000205300]
|
AlphaFold |
Q6NV66 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000050383
AA Change: A1076T
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000052641 Gene: ENSMUSG00000049739 AA Change: A1076T
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 |
unknown
Transcript: ENSMUST00000206340
AA Change: A856T
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.7%
|
Validation Efficiency |
98% (59/60) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
A |
T |
11: 110,035,100 (GRCm39) |
I689K |
probably damaging |
Het |
Agtpbp1 |
G |
T |
13: 59,609,902 (GRCm39) |
T1076K |
probably damaging |
Het |
Ammecr1l |
A |
G |
18: 31,904,962 (GRCm39) |
T68A |
probably benign |
Het |
Arvcf |
A |
G |
16: 18,215,580 (GRCm39) |
E264G |
probably damaging |
Het |
Cacna1b |
C |
T |
2: 24,538,514 (GRCm39) |
D1542N |
probably damaging |
Het |
Cacna2d2 |
A |
G |
9: 107,392,395 (GRCm39) |
T512A |
probably damaging |
Het |
Crebbp |
A |
G |
16: 3,925,356 (GRCm39) |
C1213R |
probably damaging |
Het |
Cybrd1 |
G |
T |
2: 70,948,567 (GRCm39) |
R35L |
probably damaging |
Het |
Dcaf1 |
G |
A |
9: 106,757,158 (GRCm39) |
W1412* |
probably null |
Het |
Eif4e |
T |
A |
3: 138,253,495 (GRCm39) |
D67E |
probably benign |
Het |
Epb41 |
G |
A |
4: 131,702,162 (GRCm39) |
T491I |
probably damaging |
Het |
Fez1 |
G |
A |
9: 36,779,247 (GRCm39) |
S308N |
probably benign |
Het |
Fgfr3 |
A |
G |
5: 33,887,298 (GRCm39) |
S206G |
possibly damaging |
Het |
Flcn |
A |
T |
11: 59,684,998 (GRCm39) |
N484K |
possibly damaging |
Het |
Gdap2 |
T |
C |
3: 100,090,071 (GRCm39) |
|
probably null |
Het |
Gfpt1 |
T |
A |
6: 87,062,265 (GRCm39) |
D541E |
probably benign |
Het |
Gm5089 |
A |
G |
14: 122,673,604 (GRCm39) |
F39S |
unknown |
Het |
Gm7694 |
C |
T |
1: 170,130,173 (GRCm39) |
G75D |
probably benign |
Het |
Gpr15 |
A |
G |
16: 58,538,516 (GRCm39) |
L191S |
probably benign |
Het |
Hmcn1 |
T |
G |
1: 150,545,187 (GRCm39) |
T2807P |
probably damaging |
Het |
Iqgap2 |
T |
C |
13: 95,783,349 (GRCm39) |
T1276A |
|
Het |
Itgae |
G |
T |
11: 73,002,629 (GRCm39) |
A129S |
possibly damaging |
Het |
Kcns1 |
T |
C |
2: 164,010,378 (GRCm39) |
E127G |
probably damaging |
Het |
Kmt2b |
T |
C |
7: 30,282,307 (GRCm39) |
E1118G |
probably damaging |
Het |
Lair1 |
T |
C |
7: 4,013,819 (GRCm39) |
I143V |
probably benign |
Het |
Lcmt2 |
T |
C |
2: 120,970,621 (GRCm39) |
D154G |
possibly damaging |
Het |
Ly9 |
T |
C |
1: 171,427,275 (GRCm39) |
T427A |
probably damaging |
Het |
Man2c1 |
A |
G |
9: 57,044,030 (GRCm39) |
T281A |
possibly damaging |
Het |
Map4k2 |
T |
C |
19: 6,394,515 (GRCm39) |
F332L |
probably benign |
Het |
Meak7 |
A |
T |
8: 120,495,081 (GRCm39) |
S226T |
probably benign |
Het |
Mmp10 |
A |
T |
9: 7,502,489 (GRCm39) |
D32V |
probably benign |
Het |
Mroh2a |
C |
T |
1: 88,179,096 (GRCm39) |
R1110W |
probably benign |
Het |
Naip2 |
T |
A |
13: 100,298,243 (GRCm39) |
S598C |
probably damaging |
Het |
Npnt |
T |
C |
3: 132,612,116 (GRCm39) |
N300S |
probably benign |
Het |
Or13a20 |
C |
A |
7: 140,232,263 (GRCm39) |
R124S |
probably damaging |
Het |
Or5b95 |
T |
C |
19: 12,657,712 (GRCm39) |
V80A |
probably benign |
Het |
Or5k15 |
G |
A |
16: 58,710,565 (GRCm39) |
T6I |
probably benign |
Het |
Pacsin1 |
T |
C |
17: 27,926,985 (GRCm39) |
V387A |
probably damaging |
Het |
Pald1 |
G |
T |
10: 61,178,932 (GRCm39) |
A489E |
probably benign |
Het |
Pcnx1 |
G |
T |
12: 81,964,978 (GRCm39) |
G382W |
probably damaging |
Het |
Pde6b |
T |
A |
5: 108,567,592 (GRCm39) |
M294K |
possibly damaging |
Het |
Phf20 |
T |
C |
2: 156,136,167 (GRCm39) |
V662A |
probably benign |
Het |
Plcg1 |
T |
C |
2: 160,603,276 (GRCm39) |
I1149T |
possibly damaging |
Het |
Prdx2 |
T |
C |
8: 85,697,196 (GRCm39) |
S79P |
probably damaging |
Het |
Rab19 |
T |
C |
6: 39,360,855 (GRCm39) |
M1T |
probably null |
Het |
Retn |
T |
G |
8: 3,706,908 (GRCm39) |
F44C |
probably damaging |
Het |
Rp1 |
A |
T |
1: 4,313,841 (GRCm39) |
W507R |
unknown |
Het |
Rsf1 |
A |
C |
7: 97,313,765 (GRCm39) |
|
probably null |
Het |
Ryr3 |
C |
T |
2: 112,501,011 (GRCm39) |
E3561K |
possibly damaging |
Het |
Scaf1 |
T |
A |
7: 44,652,716 (GRCm39) |
Y1220F |
unknown |
Het |
Sowahc |
A |
G |
10: 59,058,491 (GRCm39) |
K209R |
probably benign |
Het |
Supt20 |
T |
A |
3: 54,610,504 (GRCm39) |
I103N |
probably damaging |
Het |
Tenm4 |
A |
G |
7: 96,545,367 (GRCm39) |
E2498G |
probably benign |
Het |
Tet1 |
T |
C |
10: 62,674,935 (GRCm39) |
N1047S |
probably benign |
Het |
Thap1 |
CAGCATCTGCTCGGAGCA |
CAGCA |
8: 26,650,884 (GRCm39) |
|
probably null |
Het |
Tub |
T |
A |
7: 108,626,265 (GRCm39) |
I267N |
probably damaging |
Het |
Uggt1 |
T |
C |
1: 36,223,507 (GRCm39) |
E594G |
probably benign |
Het |
Vmn2r104 |
T |
A |
17: 20,250,250 (GRCm39) |
I674F |
probably damaging |
Het |
Zbed6 |
T |
C |
1: 133,585,015 (GRCm39) |
D774G |
probably damaging |
Het |
Zcchc4 |
T |
C |
5: 52,953,964 (GRCm39) |
S215P |
probably benign |
Het |
Zfc3h1 |
T |
G |
10: 115,249,916 (GRCm39) |
S1177A |
possibly damaging |
Het |
Zfp735 |
T |
A |
11: 73,602,023 (GRCm39) |
Y322* |
probably null |
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 |
R6872: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 |
|
|
Z1177:Zfp646
|
UTSW |
7 |
127,479,804 (GRCm39) |
missense |
probably benign |
0.12 |
|
Predicted Primers |
PCR Primer
(F):5'- TGACCTCCGTCTCAGAAGAAG -3'
(R):5'- CTCCAAGGGCTCCACTTTAAG -3'
Sequencing Primer
(F):5'- ACAGTTGCAGACAGCCTTTG -3'
(R):5'- AAGCTCTTCCTGGAGTTGC -3'
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Posted On |
2022-05-16 |