Incidental Mutation 'R6342:Zfp623'
| ID |
513930 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp623
|
| Ensembl Gene |
ENSMUSG00000050846 |
| Gene Name |
zinc finger protein 623 |
| Synonyms |
2610029D06Rik |
| MMRRC Submission |
044496-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.368)
|
| Stock # |
R6342 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
75812801-75821249 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 75819837 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 264
(C264*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036049
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037260]
|
| AlphaFold |
Q9CY99 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000037260
AA Change: C264*
|
| SMART Domains |
Protein: ENSMUSP00000036049
Gene: ENSMUSG00000050846
AA Change: C264*
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
119 |
141 |
5.59e-4 |
SMART |
|
ZnF_C2H2
|
147 |
169 |
9.96e-1 |
SMART |
|
ZnF_C2H2
|
175 |
197 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
203 |
225 |
6.42e-4 |
SMART |
|
ZnF_C2H2
|
231 |
253 |
1.3e-4 |
SMART |
|
ZnF_C2H2
|
259 |
281 |
1.3e-4 |
SMART |
|
ZnF_C2H2
|
287 |
309 |
1.28e-3 |
SMART |
|
ZnF_C2H2
|
315 |
337 |
3.21e-4 |
SMART |
|
ZnF_C2H2
|
343 |
365 |
3.39e-3 |
SMART |
|
ZnF_C2H2
|
371 |
393 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
399 |
421 |
2.53e-2 |
SMART |
|
ZnF_C2H2
|
427 |
449 |
3.95e-4 |
SMART |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
| Validation Efficiency |
97% (31/32) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anxa9 |
T |
C |
3: 95,204,101 (GRCm39) |
*346W |
probably null |
Het |
| Ap4b1 |
T |
C |
3: 103,720,684 (GRCm39) |
V118A |
possibly damaging |
Het |
| Atrnl1 |
T |
C |
19: 57,626,942 (GRCm39) |
S183P |
probably damaging |
Het |
| Cadm3 |
T |
C |
1: 173,168,675 (GRCm39) |
T298A |
possibly damaging |
Het |
| Crtc1 |
A |
C |
8: 70,892,207 (GRCm39) |
M1R |
probably null |
Het |
| Dalrd3 |
A |
T |
9: 108,448,322 (GRCm39) |
K291* |
probably null |
Het |
| Dhrs9 |
C |
T |
2: 69,223,531 (GRCm39) |
T93M |
probably benign |
Het |
| Dnmt1 |
G |
T |
9: 20,821,089 (GRCm39) |
S1267* |
probably null |
Het |
| Dsg1b |
T |
C |
18: 20,523,300 (GRCm39) |
I109T |
probably damaging |
Het |
| Epha3 |
C |
A |
16: 63,403,863 (GRCm39) |
R745L |
probably damaging |
Het |
| Evi2 |
A |
G |
11: 79,406,784 (GRCm39) |
S264P |
probably benign |
Het |
| Grin2a |
A |
T |
16: 9,397,198 (GRCm39) |
L963Q |
probably damaging |
Het |
| Klhdc7a |
T |
A |
4: 139,694,370 (GRCm39) |
R192S |
probably benign |
Het |
| Kynu |
G |
T |
2: 43,571,463 (GRCm39) |
D460Y |
probably benign |
Het |
| Lrfn2 |
G |
A |
17: 49,404,028 (GRCm39) |
G717D |
probably benign |
Het |
| Lrp3 |
C |
T |
7: 34,901,731 (GRCm39) |
D696N |
probably benign |
Het |
| Ogfrl1 |
T |
G |
1: 23,408,944 (GRCm39) |
K427N |
probably benign |
Het |
| Or51a5 |
T |
C |
7: 102,771,563 (GRCm39) |
T143A |
probably damaging |
Het |
| Rad17 |
A |
T |
13: 100,755,644 (GRCm39) |
I579N |
probably damaging |
Het |
| Rif1 |
T |
A |
2: 52,009,168 (GRCm39) |
Y2316N |
probably damaging |
Het |
| Ros1 |
T |
A |
10: 52,031,351 (GRCm39) |
D430V |
probably damaging |
Het |
| Rp9 |
A |
T |
9: 22,361,154 (GRCm39) |
H44Q |
probably damaging |
Het |
| Rtl1 |
T |
C |
12: 109,558,735 (GRCm39) |
T1035A |
possibly damaging |
Het |
| Slc2a5 |
A |
C |
4: 150,223,983 (GRCm39) |
D225A |
possibly damaging |
Het |
| Tlx3 |
A |
T |
11: 33,152,567 (GRCm39) |
V176E |
possibly damaging |
Het |
| Trpv3 |
G |
A |
11: 73,174,689 (GRCm39) |
G352D |
probably damaging |
Het |
| Ubr4 |
C |
A |
4: 139,156,850 (GRCm39) |
H2292N |
possibly damaging |
Het |
| Wee2 |
A |
G |
6: 40,421,189 (GRCm39) |
H93R |
probably benign |
Het |
| Xirp2 |
T |
G |
2: 67,341,994 (GRCm39) |
L1412V |
possibly damaging |
Het |
| Zfat |
T |
C |
15: 68,052,831 (GRCm39) |
H321R |
probably damaging |
Het |
| Zfp687 |
G |
C |
3: 94,919,188 (GRCm39) |
P195A |
probably benign |
Het |
|
| Other mutations in Zfp623 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00226:Zfp623
|
APN |
15 |
75,820,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01524:Zfp623
|
APN |
15 |
75,819,528 (GRCm39) |
missense |
probably benign |
|
|
IGL01927:Zfp623
|
APN |
15 |
75,819,354 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
IGL03199:Zfp623
|
APN |
15 |
75,819,119 (GRCm39) |
missense |
probably benign |
0.40 |
|
R0076:Zfp623
|
UTSW |
15 |
75,819,058 (GRCm39) |
missense |
probably benign |
|
|
R0352:Zfp623
|
UTSW |
15 |
75,820,433 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0360:Zfp623
|
UTSW |
15 |
75,820,510 (GRCm39) |
missense |
probably benign |
|
|
R0364:Zfp623
|
UTSW |
15 |
75,820,510 (GRCm39) |
missense |
probably benign |
|
|
R1783:Zfp623
|
UTSW |
15 |
75,819,760 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2219:Zfp623
|
UTSW |
15 |
75,819,379 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5975:Zfp623
|
UTSW |
15 |
75,820,012 (GRCm39) |
missense |
probably benign |
0.43 |
|
R6161:Zfp623
|
UTSW |
15 |
75,820,470 (GRCm39) |
missense |
probably benign |
0.22 |
|
R6490:Zfp623
|
UTSW |
15 |
75,820,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6513:Zfp623
|
UTSW |
15 |
75,819,317 (GRCm39) |
missense |
probably benign |
|
|
R7028:Zfp623
|
UTSW |
15 |
75,820,154 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7399:Zfp623
|
UTSW |
15 |
75,819,247 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7716:Zfp623
|
UTSW |
15 |
75,820,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8362:Zfp623
|
UTSW |
15 |
75,819,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8445:Zfp623
|
UTSW |
15 |
75,819,402 (GRCm39) |
nonsense |
probably null |
|
|
R9028:Zfp623
|
UTSW |
15 |
75,819,349 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9035:Zfp623
|
UTSW |
15 |
75,820,162 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9310:Zfp623
|
UTSW |
15 |
75,819,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCACAGTTCAGACCTGCTTCG -3'
(R):5'- AACGCTTCCCACACTCGTTG -3'
Sequencing Primer
(F):5'- CATACCAGGGAGAGGCCTTTTG -3'
(R):5'- TTGCACACGTAAGGCCG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation