Incidental Mutation 'R5998:Zfp780b'
| ID |
480675 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp780b
|
| Ensembl Gene |
ENSMUSG00000063047 |
| Gene Name |
zinc finger protein 780B |
| Synonyms |
B230208L21Rik |
| MMRRC Submission |
044177-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R5998 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
27658560-27678596 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 27664047 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 169
(K169N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146224
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081618]
[ENSMUST00000205874]
[ENSMUST00000206685]
|
| AlphaFold |
E9Q2S6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081618
AA Change: K169N
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000080324
Gene: ENSMUSG00000063047
AA Change: K169N
| 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 benign
Transcript: ENSMUST00000206685
AA Change: K169N
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.3%
- 20x: 91.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
G |
A |
11: 9,517,708 (GRCm39) |
V4437I |
probably damaging |
Het |
| Acot12 |
T |
C |
13: 91,905,653 (GRCm39) |
I71T |
possibly damaging |
Het |
| Adcy10 |
A |
G |
1: 165,369,218 (GRCm39) |
I630V |
probably benign |
Het |
| Adcy3 |
T |
A |
12: 4,248,348 (GRCm39) |
V470E |
probably damaging |
Het |
| Adcy6 |
C |
A |
15: 98,492,235 (GRCm39) |
E1008* |
probably null |
Het |
| Adgrb3 |
A |
T |
1: 25,470,582 (GRCm39) |
|
probably null |
Het |
| Ahrr |
T |
A |
13: 74,361,955 (GRCm39) |
S515C |
probably damaging |
Het |
| Ankrd52 |
T |
C |
10: 128,218,992 (GRCm39) |
I416T |
probably damaging |
Het |
| Arhgap45 |
T |
C |
10: 79,866,784 (GRCm39) |
S1096P |
probably damaging |
Het |
| Atp8b4 |
A |
G |
2: 126,275,787 (GRCm39) |
|
probably null |
Het |
| Bcl6b |
A |
C |
11: 70,119,009 (GRCm39) |
I200M |
probably damaging |
Het |
| Btbd19 |
T |
A |
4: 116,978,196 (GRCm39) |
E234V |
probably benign |
Het |
| Csmd1 |
G |
A |
8: 15,960,443 (GRCm39) |
T3324I |
probably damaging |
Het |
| Cyp2a5 |
G |
A |
7: 26,536,578 (GRCm39) |
V186I |
probably benign |
Het |
| Eif4a3l1 |
T |
C |
6: 136,305,622 (GRCm39) |
F28L |
probably benign |
Het |
| Glb1l2 |
G |
A |
9: 26,677,299 (GRCm39) |
T533I |
possibly damaging |
Het |
| Helz |
G |
T |
11: 107,576,360 (GRCm39) |
E1851* |
probably null |
Het |
| Igkv15-103 |
T |
A |
6: 68,414,489 (GRCm39) |
F13Y |
unknown |
Het |
| Kcnq2 |
T |
C |
2: 180,728,801 (GRCm39) |
H548R |
probably damaging |
Het |
| Mcm3ap |
T |
C |
10: 76,316,976 (GRCm39) |
|
probably null |
Het |
| Micall2 |
T |
C |
5: 139,692,666 (GRCm39) |
|
probably null |
Het |
| Mill2 |
A |
G |
7: 18,573,989 (GRCm39) |
R25G |
probably benign |
Het |
| Mtcl1 |
G |
A |
17: 66,675,275 (GRCm39) |
H1041Y |
probably damaging |
Het |
| Or5k16 |
T |
C |
16: 58,736,993 (GRCm39) |
T4A |
probably benign |
Het |
| Or8d2b |
G |
A |
9: 38,789,165 (GRCm39) |
R231H |
probably damaging |
Het |
| Pigt |
A |
G |
2: 164,349,374 (GRCm39) |
E559G |
possibly damaging |
Het |
| Pkdrej |
A |
G |
15: 85,699,654 (GRCm39) |
V2094A |
probably benign |
Het |
| Prkdc |
T |
A |
16: 15,601,021 (GRCm39) |
L2894Q |
probably damaging |
Het |
| Saxo4 |
A |
T |
19: 10,458,716 (GRCm39) |
W105R |
possibly damaging |
Het |
| Speer4a2 |
T |
C |
5: 26,289,704 (GRCm39) |
D241G |
probably damaging |
Het |
| Tmem63b |
A |
G |
17: 45,980,926 (GRCm39) |
V256A |
possibly damaging |
Het |
| Zfp516 |
T |
C |
18: 82,974,639 (GRCm39) |
L279P |
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 |
|
|
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'- TTGAGCGACGCTTAAAGGC -3'
(R):5'- GACTTGGAGACAGATTATGATGC -3'
Sequencing Primer
(F):5'- AGCGACGCTTAAAGGCTTTCC -3'
(R):5'- ATTCCTCAAACAGAGCATAAAGC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation