Incidental Mutation 'R4114:Zfp35'
| ID |
314566 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp35
|
| Ensembl Gene |
ENSMUSG00000063281 |
| Gene Name |
zinc finger protein 35 |
| Synonyms |
Zfp-35 |
| MMRRC Submission |
040990-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.335)
|
| Stock # |
R4114 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
24122689-24138433 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 24135766 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 37
(I37L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074475
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074941]
|
| AlphaFold |
P15620 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074941
AA Change: I37L
PolyPhen 2
Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000074475
Gene: ENSMUSG00000063281
AA Change: I37L
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
78 |
100 |
1.28e-3 |
SMART |
|
ZnF_C2H2
|
104 |
126 |
8.47e-4 |
SMART |
|
ZnF_C2H2
|
132 |
154 |
5.21e-4 |
SMART |
|
ZnF_C2H2
|
160 |
182 |
1.84e-4 |
SMART |
|
ZnF_C2H2
|
188 |
210 |
7.37e-4 |
SMART |
|
ZnF_C2H2
|
216 |
238 |
4.72e-2 |
SMART |
|
ZnF_C2H2
|
244 |
266 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
272 |
294 |
1.04e-3 |
SMART |
|
ZnF_C2H2
|
300 |
322 |
3.69e-4 |
SMART |
|
ZnF_C2H2
|
328 |
350 |
5.21e-4 |
SMART |
|
ZnF_C2H2
|
356 |
378 |
1.5e-4 |
SMART |
|
ZnF_C2H2
|
384 |
406 |
1.6e-4 |
SMART |
|
ZnF_C2H2
|
412 |
434 |
3.89e-3 |
SMART |
|
ZnF_C2H2
|
440 |
462 |
1.72e-4 |
SMART |
|
ZnF_C2H2
|
468 |
490 |
2.71e-2 |
SMART |
|
ZnF_C2H2
|
496 |
518 |
1.6e-4 |
SMART |
|
ZnF_C2H2
|
524 |
545 |
2.17e1 |
SMART |
|
ZnF_C2H2
|
551 |
573 |
1.6e-4 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (37/37) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out mutation exhibit increased airway responsiveness to ovalbumin and methacholine. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030468B19Rik |
T |
G |
11: 117,693,793 (GRCm39) |
S87A |
probably damaging |
Het |
| Abca16 |
T |
C |
7: 120,126,290 (GRCm39) |
F1149L |
probably benign |
Het |
| Abcf1 |
A |
T |
17: 36,270,146 (GRCm39) |
D637E |
probably benign |
Het |
| Ankrd34c |
A |
G |
9: 89,611,927 (GRCm39) |
L138P |
probably damaging |
Het |
| Cdh23 |
A |
G |
10: 60,256,819 (GRCm39) |
|
probably null |
Het |
| Cep44 |
T |
C |
8: 56,998,457 (GRCm39) |
T74A |
probably benign |
Het |
| Colq |
T |
A |
14: 31,279,824 (GRCm39) |
M1L |
probably benign |
Het |
| Cym |
A |
T |
3: 107,127,065 (GRCm39) |
L30Q |
probably damaging |
Het |
| Dpp6 |
T |
A |
5: 27,674,485 (GRCm39) |
|
probably null |
Het |
| Gbe1 |
G |
T |
16: 70,280,715 (GRCm39) |
G372V |
possibly damaging |
Het |
| Hdc |
T |
A |
2: 126,443,738 (GRCm39) |
M314L |
probably benign |
Het |
| Ino80b |
A |
G |
6: 83,101,121 (GRCm39) |
S149P |
probably benign |
Het |
| Itpr2 |
C |
T |
6: 146,327,008 (GRCm39) |
V120I |
probably damaging |
Het |
| Morc3 |
G |
A |
16: 93,670,227 (GRCm39) |
D801N |
probably benign |
Het |
| Mpped1 |
A |
G |
15: 83,680,910 (GRCm39) |
|
probably benign |
Het |
| Nek5 |
G |
A |
8: 22,601,178 (GRCm39) |
T181M |
probably damaging |
Het |
| Nlrp4a |
T |
G |
7: 26,149,365 (GRCm39) |
F324C |
probably damaging |
Het |
| Nop56 |
T |
C |
2: 130,118,593 (GRCm39) |
|
probably null |
Het |
| Or6c6c |
T |
C |
10: 129,541,668 (GRCm39) |
L307S |
probably benign |
Het |
| Or8u9 |
A |
T |
2: 86,001,759 (GRCm39) |
V134D |
possibly damaging |
Het |
| Pcdhb3 |
A |
G |
18: 37,435,093 (GRCm39) |
N353S |
probably benign |
Het |
| Pde8a |
T |
A |
7: 80,932,555 (GRCm39) |
|
probably null |
Het |
| Pramel29 |
A |
T |
4: 143,936,173 (GRCm39) |
L29H |
probably damaging |
Het |
| Ryr2 |
C |
T |
13: 11,707,568 (GRCm39) |
R2823H |
probably damaging |
Het |
| Scart2 |
T |
C |
7: 139,877,823 (GRCm39) |
V935A |
probably damaging |
Het |
| Sec22a |
A |
G |
16: 35,139,202 (GRCm39) |
F232S |
probably damaging |
Het |
| Slc7a1 |
T |
C |
5: 148,278,867 (GRCm39) |
T302A |
probably damaging |
Het |
| Sult2a2 |
A |
T |
7: 13,468,708 (GRCm39) |
Q58L |
probably benign |
Het |
| Tek |
T |
C |
4: 94,737,920 (GRCm39) |
S657P |
probably damaging |
Het |
| Trim5 |
A |
G |
7: 103,914,947 (GRCm39) |
L374P |
probably damaging |
Het |
| Tspan18 |
C |
A |
2: 93,142,291 (GRCm39) |
|
probably null |
Het |
| Vmn2r37 |
T |
A |
7: 9,213,092 (GRCm39) |
|
probably null |
Het |
| Zbbx |
T |
C |
3: 75,046,905 (GRCm39) |
T121A |
probably benign |
Het |
|
| Other mutations in Zfp35 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0012:Zfp35
|
UTSW |
18 |
24,136,001 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1453:Zfp35
|
UTSW |
18 |
24,136,557 (GRCm39) |
nonsense |
probably null |
|
|
R1807:Zfp35
|
UTSW |
18 |
24,136,986 (GRCm39) |
missense |
probably benign |
0.28 |
|
R2317:Zfp35
|
UTSW |
18 |
24,136,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2863:Zfp35
|
UTSW |
18 |
24,137,352 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3080:Zfp35
|
UTSW |
18 |
24,136,367 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3756:Zfp35
|
UTSW |
18 |
24,135,982 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4222:Zfp35
|
UTSW |
18 |
24,136,246 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4780:Zfp35
|
UTSW |
18 |
24,136,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5137:Zfp35
|
UTSW |
18 |
24,137,194 (GRCm39) |
nonsense |
probably null |
|
|
R5261:Zfp35
|
UTSW |
18 |
24,136,778 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5375:Zfp35
|
UTSW |
18 |
24,135,973 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6001:Zfp35
|
UTSW |
18 |
24,135,816 (GRCm39) |
missense |
probably benign |
|
|
R6190:Zfp35
|
UTSW |
18 |
24,137,118 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6774:Zfp35
|
UTSW |
18 |
24,136,015 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R6850:Zfp35
|
UTSW |
18 |
24,135,839 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R6979:Zfp35
|
UTSW |
18 |
24,136,927 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7029:Zfp35
|
UTSW |
18 |
24,136,583 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7079:Zfp35
|
UTSW |
18 |
24,136,357 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7858:Zfp35
|
UTSW |
18 |
24,136,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8257:Zfp35
|
UTSW |
18 |
24,137,288 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R9477:Zfp35
|
UTSW |
18 |
24,136,188 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9642:Zfp35
|
UTSW |
18 |
24,137,155 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTGCAGTCTGTCAACCATGTGG -3'
(R):5'- TTCCAATGAGTTCTTTGGTGCC -3'
Sequencing Primer
(F):5'- TCAACCATGTGGGGCCACTG -3'
(R):5'- GGTGCCTAATGAGACCTGTACTC -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation