Incidental Mutation 'R3086:Zfp780b'
ID |
265634 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp780b
|
Ensembl Gene |
ENSMUSG00000063047 |
Gene Name |
zinc finger protein 780B |
Synonyms |
B230208L21Rik |
MMRRC Submission |
040575-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
R3086 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
27658560-27678596 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 27663055 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 500
(I500T)
|
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: I500T
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000080324 Gene: ENSMUSG00000063047 AA Change: I500T
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 |
probably benign
Transcript: ENSMUST00000205874
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000206685
AA Change: I500T
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
Meta Mutation Damage Score |
0.3207 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
Validation Efficiency |
100% (42/42) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310039H08Rik |
T |
C |
17: 47,083,881 (GRCm39) |
L48P |
probably damaging |
Het |
Adgra3 |
A |
T |
5: 50,170,733 (GRCm39) |
|
probably null |
Het |
Alms1 |
A |
G |
6: 85,655,122 (GRCm39) |
R3223G |
probably benign |
Het |
Bltp1 |
A |
G |
3: 37,065,852 (GRCm39) |
D3483G |
possibly damaging |
Het |
Cabyr |
T |
C |
18: 12,884,023 (GRCm39) |
V170A |
probably damaging |
Het |
Ces2b |
A |
T |
8: 105,559,401 (GRCm39) |
D89V |
possibly damaging |
Het |
Dhrs2 |
G |
T |
14: 55,477,301 (GRCm39) |
V179L |
probably benign |
Het |
Dlg5 |
T |
C |
14: 24,216,258 (GRCm39) |
T595A |
probably damaging |
Het |
Dock10 |
T |
C |
1: 80,510,074 (GRCm39) |
N1585D |
possibly damaging |
Het |
Dock4 |
T |
C |
12: 40,781,862 (GRCm39) |
I689T |
probably benign |
Het |
Fgfr4 |
G |
T |
13: 55,315,205 (GRCm39) |
|
probably benign |
Het |
Frk |
G |
A |
10: 34,483,950 (GRCm39) |
G437D |
probably damaging |
Het |
Frzb |
T |
G |
2: 80,248,858 (GRCm39) |
I199L |
possibly damaging |
Het |
Gsg1l |
C |
T |
7: 125,490,852 (GRCm39) |
R284H |
probably benign |
Het |
Helq |
A |
G |
5: 100,921,858 (GRCm39) |
L782S |
probably benign |
Het |
Kif20b |
T |
C |
19: 34,907,115 (GRCm39) |
F128S |
probably damaging |
Het |
Kifc2 |
T |
C |
15: 76,551,452 (GRCm39) |
F725L |
probably benign |
Het |
Lekr1 |
A |
G |
3: 65,634,581 (GRCm39) |
|
noncoding transcript |
Het |
Macf1 |
T |
A |
4: 123,328,901 (GRCm39) |
M2490L |
probably benign |
Het |
Megf8 |
T |
A |
7: 25,048,444 (GRCm39) |
Y1706N |
probably damaging |
Het |
N4bp2 |
A |
G |
5: 65,948,396 (GRCm39) |
Y342C |
probably damaging |
Het |
Nf1 |
T |
C |
11: 79,437,812 (GRCm39) |
C2057R |
probably damaging |
Het |
Or4f60 |
C |
A |
2: 111,902,320 (GRCm39) |
G203* |
probably null |
Het |
Or4k36 |
A |
G |
2: 111,146,461 (GRCm39) |
I212M |
probably benign |
Het |
Or6c88 |
G |
A |
10: 129,407,276 (GRCm39) |
G251S |
probably damaging |
Het |
Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
Pcdha1 |
G |
C |
18: 37,064,001 (GRCm39) |
E222Q |
possibly damaging |
Het |
Prune2 |
A |
T |
19: 17,098,777 (GRCm39) |
D1427V |
possibly damaging |
Het |
Rnps1 |
C |
T |
17: 24,631,393 (GRCm39) |
|
probably benign |
Het |
Rsph4a |
G |
C |
10: 33,785,198 (GRCm39) |
V370L |
probably damaging |
Het |
Sema5b |
T |
A |
16: 35,443,093 (GRCm39) |
S33T |
probably benign |
Het |
Stk-ps2 |
A |
C |
1: 46,068,236 (GRCm39) |
|
noncoding transcript |
Het |
Tep1 |
A |
T |
14: 51,064,511 (GRCm39) |
|
probably null |
Het |
Tet1 |
T |
C |
10: 62,715,400 (GRCm39) |
K132E |
probably benign |
Het |
Tiam2 |
A |
G |
17: 3,471,857 (GRCm39) |
K500E |
probably damaging |
Het |
Tmem131l |
G |
T |
3: 83,839,046 (GRCm39) |
R635S |
probably benign |
Het |
Tmem68 |
T |
C |
4: 3,569,594 (GRCm39) |
E32G |
possibly damaging |
Het |
Vmn2r101 |
T |
A |
17: 19,809,077 (GRCm39) |
|
probably null |
Het |
Zfyve26 |
G |
T |
12: 79,312,457 (GRCm39) |
|
probably benign |
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 |
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 |
R6050:Zfp780b
|
UTSW |
7 |
27,663,727 (GRCm39) |
missense |
probably damaging |
0.98 |
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'- TACCTTGCACTCAAAGGGTC -3'
(R):5'- CCACACAAGTGTAATGAGTGTGG -3'
Sequencing Primer
(F):5'- TGCACTCAAAGGGTCTGTTAC -3'
(R):5'- TTTAAAAGAAGCAAAAGCCTCATGC -3'
|
Posted On |
2015-02-05 |