Incidental Mutation 'R9219:Zfp780b'
| ID |
699365 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp780b
|
| Ensembl Gene |
ENSMUSG00000063047 |
| Gene Name |
zinc finger protein 780B |
| Synonyms |
B230208L21Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R9219 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
27658560-27678596 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 27663806 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 250
(T250A)
|
| 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: T250A
PolyPhen 2
Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000080324
Gene: ENSMUSG00000063047
AA Change: T250A
| 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 benign
Transcript: ENSMUST00000206685
AA Change: T250A
PolyPhen 2
Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (38/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alx1 |
A |
T |
10: 102,858,121 (GRCm39) |
Y193N |
probably damaging |
Het |
| Cmtm2a |
A |
G |
8: 105,008,101 (GRCm39) |
F116S |
probably damaging |
Het |
| Dennd4a |
A |
T |
9: 64,796,376 (GRCm39) |
M801L |
probably damaging |
Het |
| Disp3 |
A |
G |
4: 148,334,317 (GRCm39) |
V992A |
possibly damaging |
Het |
| Dop1b |
C |
A |
16: 93,567,184 (GRCm39) |
R1322S |
probably damaging |
Het |
| Dusp7 |
T |
C |
9: 106,248,212 (GRCm39) |
V280A |
probably damaging |
Het |
| Efcab3 |
A |
C |
11: 104,836,691 (GRCm39) |
S3560R |
unknown |
Het |
| Flg |
A |
G |
3: 93,198,406 (GRCm39) |
E245G |
possibly damaging |
Het |
| Garnl3 |
A |
G |
2: 32,975,898 (GRCm39) |
S68P |
probably damaging |
Het |
| Grin1 |
T |
C |
2: 25,187,678 (GRCm39) |
T582A |
possibly damaging |
Het |
| Hectd1 |
A |
G |
12: 51,800,612 (GRCm39) |
C2069R |
probably damaging |
Het |
| Herc3 |
T |
A |
6: 58,871,552 (GRCm39) |
I867K |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,594,844 (GRCm39) |
|
probably null |
Het |
| Igkv4-54 |
T |
A |
6: 69,608,689 (GRCm39) |
M77L |
probably benign |
Het |
| Kcnmb4 |
G |
C |
10: 116,309,372 (GRCm39) |
R19G |
probably damaging |
Het |
| Lamb3 |
A |
G |
1: 193,010,232 (GRCm39) |
T282A |
probably damaging |
Het |
| Lrrc58 |
T |
A |
16: 37,689,180 (GRCm39) |
L108Q |
probably damaging |
Het |
| Macf1 |
C |
A |
4: 123,301,554 (GRCm39) |
A983S |
possibly damaging |
Het |
| Mcf2l |
A |
T |
8: 13,061,383 (GRCm39) |
N794I |
probably damaging |
Het |
| Mroh3 |
A |
G |
1: 136,119,377 (GRCm39) |
F469L |
probably benign |
Het |
| Muc5ac |
T |
A |
7: 141,370,800 (GRCm39) |
C3244* |
probably null |
Het |
| Myo16 |
G |
T |
8: 10,492,236 (GRCm39) |
R726L |
unknown |
Het |
| Naaa |
A |
G |
5: 92,425,864 (GRCm39) |
V43A |
probably damaging |
Het |
| Naip2 |
A |
G |
13: 100,297,213 (GRCm39) |
V941A |
probably benign |
Het |
| Nbea |
AC |
A |
3: 55,998,393 (GRCm39) |
|
probably null |
Het |
| Nlrp4e |
T |
C |
7: 23,020,941 (GRCm39) |
V476A |
possibly damaging |
Het |
| Or1e23 |
A |
C |
11: 73,407,801 (GRCm39) |
S75A |
probably damaging |
Het |
| Pcdh20 |
T |
G |
14: 88,706,255 (GRCm39) |
R348S |
probably benign |
Het |
| Pom121l12 |
C |
A |
11: 14,549,809 (GRCm39) |
P172T |
probably damaging |
Het |
| Pramel26 |
G |
A |
4: 143,537,303 (GRCm39) |
R343C |
probably benign |
Het |
| Prkd3 |
A |
G |
17: 79,273,628 (GRCm39) |
S543P |
probably benign |
Het |
| Ptpn13 |
A |
G |
5: 103,745,632 (GRCm39) |
Q2446R |
probably benign |
Het |
| Qrich2 |
A |
C |
11: 116,335,900 (GRCm39) |
S345A |
possibly damaging |
Het |
| Ryr3 |
T |
C |
2: 112,742,584 (GRCm39) |
E498G |
possibly damaging |
Het |
| Sh3d19 |
A |
G |
3: 86,030,507 (GRCm39) |
T675A |
possibly damaging |
Het |
| Tasor |
T |
A |
14: 27,186,344 (GRCm39) |
Y848N |
possibly damaging |
Het |
| Tdpoz8 |
A |
G |
3: 92,981,531 (GRCm39) |
D109G |
probably damaging |
Het |
| Ubl3 |
T |
C |
5: 148,443,270 (GRCm39) |
E96G |
probably damaging |
Het |
| Zfp871 |
A |
T |
17: 32,993,914 (GRCm39) |
N420K |
probably benign |
Het |
| Zfp949 |
C |
T |
9: 88,451,723 (GRCm39) |
T431M |
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 |
|
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 |
|
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'- TGGTACTTGAGCAGGTCAGG -3'
(R):5'- TGCCAGACTCTTGCTCACAATAC -3'
Sequencing Primer
(F):5'- AGTCCTTACACTGAAAGGGTCTC -3'
(R):5'- GTAGGTCAACTCTTACTCAGCATCAG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation