Incidental Mutation 'R1299:Zfp354b'
| ID |
158255 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp354b
|
| Ensembl Gene |
ENSMUSG00000020335 |
| Gene Name |
zinc finger protein 354B |
| Synonyms |
Kid2 |
| MMRRC Submission |
039365-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R1299 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
50812650-50822460 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 50814297 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 209
(S209R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127671
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109124]
[ENSMUST00000164280]
|
| AlphaFold |
Q9QXT9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109124
AA Change: S209R
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000104752
Gene: ENSMUSG00000020335
AA Change: S209R
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
14 |
74 |
1.85e-36 |
SMART |
|
ZnF_C2H2
|
206 |
228 |
4.47e-3 |
SMART |
|
ZnF_C2H2
|
234 |
256 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
262 |
284 |
7.37e-4 |
SMART |
|
ZnF_C2H2
|
290 |
312 |
1.3e-4 |
SMART |
|
ZnF_C2H2
|
343 |
365 |
1.47e-3 |
SMART |
|
ZnF_C2H2
|
371 |
393 |
4.24e-4 |
SMART |
|
ZnF_C2H2
|
399 |
421 |
2.79e-4 |
SMART |
|
ZnF_C2H2
|
427 |
449 |
9.58e-3 |
SMART |
|
ZnF_C2H2
|
455 |
477 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
483 |
505 |
1.2e-3 |
SMART |
|
ZnF_C2H2
|
511 |
533 |
3.95e-4 |
SMART |
|
ZnF_C2H2
|
539 |
561 |
2.99e-4 |
SMART |
|
ZnF_C2H2
|
567 |
589 |
4.87e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164280
AA Change: S209R
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000127671
Gene: ENSMUSG00000020335
AA Change: S209R
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
14 |
74 |
1.85e-36 |
SMART |
|
ZnF_C2H2
|
206 |
228 |
4.47e-3 |
SMART |
|
ZnF_C2H2
|
234 |
256 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
262 |
284 |
7.37e-4 |
SMART |
|
ZnF_C2H2
|
290 |
312 |
1.3e-4 |
SMART |
|
ZnF_C2H2
|
343 |
365 |
1.47e-3 |
SMART |
|
ZnF_C2H2
|
371 |
393 |
4.24e-4 |
SMART |
|
ZnF_C2H2
|
399 |
421 |
2.79e-4 |
SMART |
|
ZnF_C2H2
|
427 |
449 |
9.58e-3 |
SMART |
|
ZnF_C2H2
|
455 |
477 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
483 |
505 |
1.2e-3 |
SMART |
|
ZnF_C2H2
|
511 |
533 |
3.95e-4 |
SMART |
|
ZnF_C2H2
|
539 |
561 |
2.99e-4 |
SMART |
|
ZnF_C2H2
|
567 |
589 |
4.87e-4 |
SMART |
|
| Meta Mutation Damage Score |
0.1025 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.3%
|
| Validation Efficiency |
100% (38/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,244,821 (GRCm39) |
L2228P |
possibly damaging |
Het |
| Acnat1 |
T |
A |
4: 49,450,925 (GRCm39) |
E62V |
possibly damaging |
Het |
| Adam7 |
A |
G |
14: 68,763,748 (GRCm39) |
|
probably benign |
Het |
| Ate1 |
A |
T |
7: 130,106,485 (GRCm39) |
V292D |
probably damaging |
Het |
| Cbx8 |
T |
C |
11: 118,931,676 (GRCm39) |
M1V |
probably null |
Het |
| Cdc73 |
T |
C |
1: 143,575,019 (GRCm39) |
D58G |
probably benign |
Het |
| Cgnl1 |
G |
A |
9: 71,628,994 (GRCm39) |
|
probably benign |
Het |
| Col27a1 |
G |
A |
4: 63,183,868 (GRCm39) |
|
probably benign |
Het |
| Fam133b |
T |
C |
5: 3,604,626 (GRCm39) |
|
probably benign |
Het |
| Fndc3a |
A |
G |
14: 72,803,638 (GRCm39) |
|
probably benign |
Het |
| Golga3 |
G |
A |
5: 110,352,709 (GRCm39) |
A867T |
probably benign |
Het |
| Gpr142 |
A |
T |
11: 114,695,185 (GRCm39) |
Y50F |
probably benign |
Het |
| Gramd1c |
A |
G |
16: 43,803,865 (GRCm39) |
|
probably benign |
Het |
| Gypa |
G |
A |
8: 81,223,382 (GRCm39) |
V53I |
unknown |
Het |
| H2-DMb2 |
T |
C |
17: 34,369,561 (GRCm39) |
V235A |
probably benign |
Het |
| Igkv10-94 |
T |
C |
6: 68,681,482 (GRCm39) |
|
probably benign |
Het |
| Katnip |
A |
C |
7: 125,451,195 (GRCm39) |
M1109L |
probably benign |
Het |
| Klhl17 |
T |
C |
4: 156,315,419 (GRCm39) |
Y484C |
probably damaging |
Het |
| Ltbp3 |
T |
C |
19: 5,795,456 (GRCm39) |
|
probably benign |
Het |
| Mapkbp1 |
G |
A |
2: 119,845,885 (GRCm39) |
C412Y |
probably damaging |
Het |
| Mblac2 |
C |
A |
13: 81,859,845 (GRCm39) |
C65* |
probably null |
Het |
| Or5b104 |
T |
A |
19: 13,072,494 (GRCm39) |
N173Y |
possibly damaging |
Het |
| Or6c217 |
A |
G |
10: 129,737,946 (GRCm39) |
I211T |
probably benign |
Het |
| Parn |
G |
A |
16: 13,482,593 (GRCm39) |
T85M |
probably benign |
Het |
| Pcdhb22 |
T |
C |
18: 37,653,643 (GRCm39) |
S704P |
probably damaging |
Het |
| Prex1 |
A |
G |
2: 166,427,827 (GRCm39) |
F942L |
possibly damaging |
Het |
| Prox1 |
G |
T |
1: 189,879,140 (GRCm39) |
|
probably benign |
Het |
| Prss55 |
A |
T |
14: 64,319,147 (GRCm39) |
I70N |
probably damaging |
Het |
| Slc25a13 |
C |
T |
6: 6,113,937 (GRCm39) |
|
probably null |
Het |
| Smarca2 |
T |
C |
19: 26,749,011 (GRCm39) |
|
probably null |
Het |
| Smarcc2 |
C |
A |
10: 128,297,247 (GRCm39) |
N46K |
probably damaging |
Het |
| Tdpoz4 |
A |
T |
3: 93,703,769 (GRCm39) |
Y22F |
probably benign |
Het |
| Tgfbr1 |
T |
A |
4: 47,396,587 (GRCm39) |
|
probably null |
Het |
| Xpr1 |
A |
C |
1: 155,292,949 (GRCm39) |
I11S |
probably damaging |
Het |
| Zfp882 |
A |
G |
8: 72,667,317 (GRCm39) |
E88G |
probably damaging |
Het |
|
| Other mutations in Zfp354b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02029:Zfp354b
|
APN |
11 |
50,814,664 (GRCm39) |
missense |
probably benign |
|
|
R1353:Zfp354b
|
UTSW |
11 |
50,814,240 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1860:Zfp354b
|
UTSW |
11 |
50,814,369 (GRCm39) |
missense |
probably benign |
|
|
R2072:Zfp354b
|
UTSW |
11 |
50,813,279 (GRCm39) |
nonsense |
probably null |
|
|
R5221:Zfp354b
|
UTSW |
11 |
50,813,917 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5231:Zfp354b
|
UTSW |
11 |
50,813,917 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5258:Zfp354b
|
UTSW |
11 |
50,813,917 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5775:Zfp354b
|
UTSW |
11 |
50,813,647 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5847:Zfp354b
|
UTSW |
11 |
50,814,043 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5929:Zfp354b
|
UTSW |
11 |
50,813,282 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6443:Zfp354b
|
UTSW |
11 |
50,813,581 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6748:Zfp354b
|
UTSW |
11 |
50,813,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7439:Zfp354b
|
UTSW |
11 |
50,813,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7706:Zfp354b
|
UTSW |
11 |
50,819,390 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7819:Zfp354b
|
UTSW |
11 |
50,814,632 (GRCm39) |
nonsense |
probably null |
|
|
R7830:Zfp354b
|
UTSW |
11 |
50,814,136 (GRCm39) |
missense |
probably benign |
0.28 |
|
R8508:Zfp354b
|
UTSW |
11 |
50,814,297 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9157:Zfp354b
|
UTSW |
11 |
50,813,887 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9170:Zfp354b
|
UTSW |
11 |
50,814,362 (GRCm39) |
missense |
probably benign |
|
|
R9303:Zfp354b
|
UTSW |
11 |
50,820,256 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9462:Zfp354b
|
UTSW |
11 |
50,814,523 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGGGACGTGGATGCCTTCCTTC -3'
(R):5'- GGATGTCACGGCAGTCTTCAAACC -3'
Sequencing Primer
(F):5'- gcttgcagagggatgcac -3'
(R):5'- GCAGACCTGACAACAGTTTTAG -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation