Incidental Mutation 'R2100:Zfp646'
| ID |
230439 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp646
|
| Ensembl Gene |
ENSMUSG00000049739 |
| Gene Name |
zinc finger protein 646 |
| Synonyms |
|
| MMRRC Submission |
040104-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.251)
|
| Stock # |
R2100 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
127476081-127485168 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 127481359 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Aspartic acid
at position 1179
(Y1179D)
|
| 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: Y1179D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000052641
Gene: ENSMUSG00000049739
AA Change: Y1179D
| 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 |
noncoding transcript
Transcript: ENSMUST00000205364
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000206340
AA Change: Y959D
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
C |
T |
17: 24,627,183 (GRCm39) |
R1295W |
probably damaging |
Het |
| Abca8b |
A |
T |
11: 109,828,608 (GRCm39) |
I1430N |
probably damaging |
Het |
| Abcb1a |
A |
G |
5: 8,763,202 (GRCm39) |
T577A |
probably damaging |
Het |
| Arl5b |
G |
A |
2: 15,078,006 (GRCm39) |
M101I |
probably benign |
Het |
| C1qbp |
T |
A |
11: 70,868,928 (GRCm39) |
N278I |
probably benign |
Het |
| Cdh1 |
A |
T |
8: 107,386,300 (GRCm39) |
T408S |
possibly damaging |
Het |
| Cfap54 |
T |
A |
10: 92,837,799 (GRCm39) |
I1034F |
possibly damaging |
Het |
| Chd9 |
C |
T |
8: 91,760,615 (GRCm39) |
P2120L |
probably benign |
Het |
| Chil4 |
T |
C |
3: 106,121,663 (GRCm39) |
K62R |
probably benign |
Het |
| Crebl2 |
A |
G |
6: 134,828,166 (GRCm39) |
T113A |
probably benign |
Het |
| Cyp2c69 |
C |
A |
19: 39,875,130 (GRCm39) |
V8L |
probably benign |
Het |
| Dpp6 |
A |
G |
5: 27,869,742 (GRCm39) |
R447G |
probably damaging |
Het |
| Efcab6 |
A |
T |
15: 83,777,168 (GRCm39) |
|
probably null |
Het |
| Emilin1 |
T |
G |
5: 31,075,241 (GRCm39) |
V494G |
probably benign |
Het |
| Enoph1 |
A |
G |
5: 100,211,645 (GRCm39) |
I181V |
probably null |
Het |
| F3 |
T |
C |
3: 121,526,082 (GRCm39) |
V215A |
possibly damaging |
Het |
| Fads2b |
T |
C |
2: 85,330,593 (GRCm39) |
N238S |
probably damaging |
Het |
| Fat3 |
G |
T |
9: 16,288,726 (GRCm39) |
H266N |
possibly damaging |
Het |
| Frmd4a |
A |
G |
2: 4,610,834 (GRCm39) |
T995A |
probably damaging |
Het |
| Garnl3 |
T |
C |
2: 32,936,657 (GRCm39) |
T171A |
probably benign |
Het |
| Hspa4l |
T |
C |
3: 40,727,090 (GRCm39) |
V476A |
possibly damaging |
Het |
| Impg2 |
A |
G |
16: 56,051,748 (GRCm39) |
|
probably null |
Het |
| Kctd6 |
T |
C |
14: 8,222,239 (GRCm38) |
L27P |
possibly damaging |
Het |
| Kmt2d |
G |
T |
15: 98,744,361 (GRCm39) |
|
probably benign |
Het |
| Kremen1 |
AGGCGG |
AGGCGGCGG |
11: 5,151,788 (GRCm39) |
|
probably benign |
Het |
| Lrig2 |
A |
G |
3: 104,418,946 (GRCm39) |
L21P |
possibly damaging |
Het |
| Macf1 |
G |
A |
4: 123,291,699 (GRCm39) |
Q3284* |
probably null |
Het |
| Mnt |
A |
G |
11: 74,722,177 (GRCm39) |
E8G |
probably damaging |
Het |
| Nbeal1 |
A |
G |
1: 60,344,430 (GRCm39) |
|
probably null |
Het |
| Nid2 |
C |
T |
14: 19,828,946 (GRCm39) |
Q331* |
probably null |
Het |
| Nlrx1 |
A |
G |
9: 44,173,905 (GRCm39) |
L432P |
probably damaging |
Het |
| Nop2 |
T |
A |
6: 125,117,785 (GRCm39) |
D445E |
probably damaging |
Het |
| Nup62 |
T |
C |
7: 44,478,921 (GRCm39) |
|
probably benign |
Het |
| Oas2 |
A |
G |
5: 120,883,740 (GRCm39) |
|
probably null |
Het |
| Or5b121 |
A |
G |
19: 13,507,798 (GRCm39) |
I298V |
probably benign |
Het |
| Or5p1 |
A |
T |
7: 107,916,761 (GRCm39) |
Y220F |
probably benign |
Het |
| Or5w10 |
T |
A |
2: 87,375,169 (GRCm39) |
T240S |
probably damaging |
Het |
| Or8k40 |
A |
T |
2: 86,584,905 (GRCm39) |
M59K |
possibly damaging |
Het |
| Or9i14 |
A |
G |
19: 13,792,600 (GRCm39) |
M118T |
possibly damaging |
Het |
| P3h3 |
T |
A |
6: 124,822,005 (GRCm39) |
T623S |
probably damaging |
Het |
| Pkp3 |
T |
C |
7: 140,663,205 (GRCm39) |
V350A |
probably damaging |
Het |
| Plekha3 |
T |
A |
2: 76,523,007 (GRCm39) |
I225N |
probably benign |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
| Rnf213 |
A |
T |
11: 119,358,128 (GRCm39) |
K4292* |
probably null |
Het |
| Rtkn |
T |
C |
6: 83,126,541 (GRCm39) |
|
probably null |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Snx10 |
T |
C |
6: 51,565,395 (GRCm39) |
Y171H |
probably damaging |
Het |
| Stx12 |
A |
T |
4: 132,587,913 (GRCm39) |
I173N |
possibly damaging |
Het |
| Thrb |
T |
A |
14: 18,030,393 (GRCm38) |
M379K |
possibly damaging |
Het |
| Tmem132e |
T |
A |
11: 82,335,357 (GRCm39) |
V813E |
probably damaging |
Het |
| Tnfsf12 |
T |
C |
11: 69,578,175 (GRCm39) |
E134G |
probably damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Tpbgl |
T |
A |
7: 99,275,651 (GRCm39) |
I69F |
possibly damaging |
Het |
| Ythdc1 |
T |
A |
5: 86,964,544 (GRCm39) |
S130T |
possibly damaging |
Het |
| Zbp1 |
A |
G |
2: 173,051,037 (GRCm39) |
S278P |
probably damaging |
Het |
| Zfp30 |
A |
G |
7: 29,492,951 (GRCm39) |
T483A |
probably benign |
Het |
| Zfp322a |
G |
A |
13: 23,541,460 (GRCm39) |
S94L |
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 |
|
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 |
|
|
|
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'- CTCCAGGAAGAGCTTAAAGTGG -3'
(R):5'- CTCACGAGTCAGTTTCTGGG -3'
Sequencing Primer
(F):5'- AGCTTAAAGTGGAGCCCTTG -3'
(R):5'- AGTCAGTTTCTGGGTGCCCC -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation