Incidental Mutation 'R6050:Zfp780b'
| ID |
483501 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp780b
|
| Ensembl Gene |
ENSMUSG00000063047 |
| Gene Name |
zinc finger protein 780B |
| Synonyms |
B230208L21Rik |
| MMRRC Submission |
044218-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R6050 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
27658560-27678596 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 27663727 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 276
(I276N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146224
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081618]
[ENSMUST00000205874]
[ENSMUST00000206685]
|
| AlphaFold |
E9Q2S6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000081618
AA Change: I276N
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000080324
Gene: ENSMUSG00000063047
AA Change: I276N
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
14 |
75 |
8.48e-36 |
SMART |
|
ZnF_C2H2
|
171 |
193 |
2.91e-2 |
SMART |
|
ZnF_C2H2
|
199 |
221 |
3.44e-4 |
SMART |
|
ZnF_C2H2
|
227 |
249 |
3.11e-2 |
SMART |
|
ZnF_C2H2
|
255 |
277 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
283 |
305 |
2.15e-5 |
SMART |
|
ZnF_C2H2
|
311 |
333 |
1.18e-2 |
SMART |
|
ZnF_C2H2
|
339 |
361 |
1.47e-3 |
SMART |
|
ZnF_C2H2
|
367 |
389 |
1.79e-2 |
SMART |
|
ZnF_C2H2
|
395 |
417 |
2.24e-3 |
SMART |
|
ZnF_C2H2
|
423 |
445 |
7.9e-4 |
SMART |
|
ZnF_C2H2
|
451 |
473 |
8.34e-3 |
SMART |
|
ZnF_C2H2
|
479 |
501 |
7.9e-4 |
SMART |
|
ZnF_C2H2
|
507 |
529 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
535 |
557 |
1.58e-3 |
SMART |
|
ZnF_C2H2
|
563 |
585 |
9.08e-4 |
SMART |
|
ZnF_C2H2
|
591 |
613 |
1.36e-2 |
SMART |
|
ZnF_C2H2
|
619 |
641 |
1.04e-3 |
SMART |
|
ZnF_C2H2
|
647 |
669 |
1.2e-3 |
SMART |
|
ZnF_C2H2
|
675 |
697 |
2.24e-3 |
SMART |
|
ZnF_C2H2
|
703 |
725 |
1.03e-2 |
SMART |
|
ZnF_C2H2
|
731 |
753 |
4.17e-3 |
SMART |
|
ZnF_C2H2
|
759 |
781 |
1.78e2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205431
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205874
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000206685
AA Change: I276N
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
C |
A |
11: 109,868,639 (GRCm39) |
G175V |
probably damaging |
Het |
| Ahdc1 |
A |
G |
4: 132,793,202 (GRCm39) |
D1481G |
possibly damaging |
Het |
| Ak9 |
A |
G |
10: 41,265,108 (GRCm39) |
E955G |
possibly damaging |
Het |
| Aox3 |
T |
C |
1: 58,219,814 (GRCm39) |
F1138S |
possibly damaging |
Het |
| Bbs2 |
T |
A |
8: 94,819,160 (GRCm39) |
N70Y |
probably damaging |
Het |
| BC048679 |
T |
C |
7: 81,145,339 (GRCm39) |
I70V |
possibly damaging |
Het |
| Catspere2 |
G |
A |
1: 177,931,490 (GRCm39) |
A470T |
unknown |
Het |
| Ccdc141 |
G |
T |
2: 76,842,075 (GRCm39) |
A1452E |
probably benign |
Het |
| Celsr1 |
T |
C |
15: 85,814,812 (GRCm39) |
D1883G |
probably benign |
Het |
| Clhc1 |
A |
G |
11: 29,511,397 (GRCm39) |
I280M |
possibly damaging |
Het |
| Cmtr1 |
G |
T |
17: 29,901,108 (GRCm39) |
K678N |
probably damaging |
Het |
| Daam2 |
T |
C |
17: 49,793,530 (GRCm39) |
D329G |
possibly damaging |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Duox1 |
C |
T |
2: 122,149,956 (GRCm39) |
P116S |
probably benign |
Het |
| Fcf1 |
G |
A |
12: 85,029,017 (GRCm39) |
C154Y |
probably damaging |
Het |
| Frem2 |
T |
C |
3: 53,560,433 (GRCm39) |
N1358S |
probably damaging |
Het |
| Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
| Gtf3c3 |
T |
C |
1: 54,445,229 (GRCm39) |
I608M |
probably benign |
Het |
| Gzf1 |
G |
A |
2: 148,526,158 (GRCm39) |
D210N |
possibly damaging |
Het |
| Ift140 |
C |
T |
17: 25,309,979 (GRCm39) |
R1129C |
probably damaging |
Het |
| Lias |
A |
G |
5: 65,551,315 (GRCm39) |
I83V |
possibly damaging |
Het |
| Mlh3 |
T |
C |
12: 85,287,620 (GRCm39) |
T1342A |
possibly damaging |
Het |
| Mn1 |
A |
G |
5: 111,567,263 (GRCm39) |
Y411C |
probably damaging |
Het |
| Mrps21 |
C |
T |
3: 95,770,200 (GRCm39) |
R43H |
probably benign |
Het |
| Ncam2 |
C |
T |
16: 81,240,054 (GRCm39) |
Q172* |
probably null |
Het |
| Notch3 |
T |
C |
17: 32,362,501 (GRCm39) |
T1375A |
probably benign |
Het |
| Oga |
A |
C |
19: 45,753,919 (GRCm39) |
S652A |
possibly damaging |
Het |
| Ovol3 |
T |
A |
7: 29,933,819 (GRCm39) |
Y101F |
probably benign |
Het |
| Pcbp4 |
T |
C |
9: 106,339,422 (GRCm39) |
V45A |
probably benign |
Het |
| Plec |
T |
C |
15: 76,072,458 (GRCm39) |
E709G |
probably damaging |
Het |
| Prcc |
G |
A |
3: 87,777,191 (GRCm39) |
T261I |
probably damaging |
Het |
| Psg25 |
A |
G |
7: 18,260,403 (GRCm39) |
V165A |
probably benign |
Het |
| Rfk |
C |
T |
19: 17,376,896 (GRCm39) |
P133S |
probably benign |
Het |
| Scaf8 |
C |
T |
17: 3,218,383 (GRCm39) |
T251M |
unknown |
Het |
| Sec14l2 |
T |
C |
11: 4,061,477 (GRCm39) |
D67G |
probably benign |
Het |
| Smtnl1 |
A |
G |
2: 84,641,797 (GRCm39) |
I441T |
probably damaging |
Het |
| Tbce |
C |
T |
13: 14,173,019 (GRCm39) |
V471I |
possibly damaging |
Het |
| Tnip1 |
G |
A |
11: 54,808,703 (GRCm39) |
R495C |
probably damaging |
Het |
| Trbv19 |
A |
G |
6: 41,155,944 (GRCm39) |
K105R |
probably benign |
Het |
| Ttc5 |
T |
A |
14: 51,010,744 (GRCm39) |
N229I |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,689,521 (GRCm39) |
F5028L |
probably benign |
Het |
| Vmn2r24 |
T |
C |
6: 123,792,691 (GRCm39) |
S673P |
probably damaging |
Het |
|
| Other mutations in Zfp780b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00782:Zfp780b
|
APN |
7 |
27,664,186 (GRCm39) |
missense |
probably benign |
|
|
IGL03088:Zfp780b
|
APN |
7 |
27,662,417 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL03211:Zfp780b
|
APN |
7 |
27,662,600 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0403:Zfp780b
|
UTSW |
7 |
27,671,114 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R1458:Zfp780b
|
UTSW |
7 |
27,664,252 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1550:Zfp780b
|
UTSW |
7 |
27,664,282 (GRCm39) |
missense |
probably benign |
|
|
R1694:Zfp780b
|
UTSW |
7 |
27,663,808 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1823:Zfp780b
|
UTSW |
7 |
27,662,525 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2113:Zfp780b
|
UTSW |
7 |
27,663,298 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R3086:Zfp780b
|
UTSW |
7 |
27,663,055 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4620:Zfp780b
|
UTSW |
7 |
27,662,178 (GRCm39) |
nonsense |
probably null |
|
|
R5023:Zfp780b
|
UTSW |
7 |
27,662,873 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5521:Zfp780b
|
UTSW |
7 |
27,674,173 (GRCm39) |
splice site |
probably null |
|
|
R5582:Zfp780b
|
UTSW |
7 |
27,664,252 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5677:Zfp780b
|
UTSW |
7 |
27,662,224 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5762:Zfp780b
|
UTSW |
7 |
27,664,243 (GRCm39) |
missense |
probably benign |
|
|
R5998:Zfp780b
|
UTSW |
7 |
27,664,047 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6036:Zfp780b
|
UTSW |
7 |
27,662,993 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6036:Zfp780b
|
UTSW |
7 |
27,662,993 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6702:Zfp780b
|
UTSW |
7 |
27,671,066 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6703:Zfp780b
|
UTSW |
7 |
27,671,066 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7112:Zfp780b
|
UTSW |
7 |
27,662,566 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7311:Zfp780b
|
UTSW |
7 |
27,662,588 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7469:Zfp780b
|
UTSW |
7 |
27,663,382 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7561:Zfp780b
|
UTSW |
7 |
27,664,037 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7847:Zfp780b
|
UTSW |
7 |
27,663,843 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8412:Zfp780b
|
UTSW |
7 |
27,662,551 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8824:Zfp780b
|
UTSW |
7 |
27,662,893 (GRCm39) |
missense |
probably benign |
0.45 |
|
R9219:Zfp780b
|
UTSW |
7 |
27,663,806 (GRCm39) |
missense |
probably benign |
0.24 |
|
R9248:Zfp780b
|
UTSW |
7 |
27,673,143 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9642:Zfp780b
|
UTSW |
7 |
27,664,135 (GRCm39) |
missense |
probably benign |
0.37 |
|
X0024:Zfp780b
|
UTSW |
7 |
27,662,675 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1186:Zfp780b
|
UTSW |
7 |
27,664,082 (GRCm39) |
missense |
probably benign |
|
|
Z1186:Zfp780b
|
UTSW |
7 |
27,663,968 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
Z1186:Zfp780b
|
UTSW |
7 |
27,663,250 (GRCm39) |
missense |
probably benign |
|
|
Z1186:Zfp780b
|
UTSW |
7 |
27,674,203 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TATGGTACTTGAGCAGGTCAGG -3'
(R):5'- TGCCAGACTCTTGCTCACAATAC -3'
Sequencing Primer
(F):5'- ACCACTGTGAGACTTCTGATG -3'
(R):5'- GTAGGTCAACTCTTACTCAGCATCAG -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation