Incidental Mutation 'R1252:Zfp946'
ID |
151821 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp946
|
Ensembl Gene |
ENSMUSG00000071266 |
Gene Name |
zinc finger protein 946 |
Synonyms |
1300003B13Rik |
MMRRC Submission |
039319-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.071)
|
Stock # |
R1252 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
22643203-22675670 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
G to T
at 22672560 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132940
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088763]
[ENSMUST00000120222]
[ENSMUST00000167740]
|
AlphaFold |
F6VWU8 |
Predicted Effect |
probably null
Transcript: ENSMUST00000088763
|
SMART Domains |
Protein: ENSMUSP00000086141 Gene: ENSMUSG00000071266
Domain | Start | End | E-Value | Type |
KRAB
|
13 |
71 |
4.49e-17 |
SMART |
ZnF_C2H2
|
186 |
208 |
3.83e-2 |
SMART |
ZnF_C2H2
|
242 |
264 |
1.6e-4 |
SMART |
ZnF_C2H2
|
270 |
292 |
1.45e-2 |
SMART |
ZnF_C2H2
|
298 |
320 |
5.99e-4 |
SMART |
ZnF_C2H2
|
326 |
348 |
2.15e-5 |
SMART |
ZnF_C2H2
|
354 |
376 |
2.4e-3 |
SMART |
ZnF_C2H2
|
382 |
404 |
1.28e-3 |
SMART |
ZnF_C2H2
|
410 |
432 |
2.09e-3 |
SMART |
ZnF_C2H2
|
438 |
460 |
9.44e-2 |
SMART |
ZnF_C2H2
|
466 |
488 |
3.44e-4 |
SMART |
ZnF_C2H2
|
494 |
516 |
1.5e-4 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000120222
|
SMART Domains |
Protein: ENSMUSP00000113244 Gene: ENSMUSG00000071266
Domain | Start | End | E-Value | Type |
KRAB
|
13 |
71 |
4.49e-17 |
SMART |
ZnF_C2H2
|
186 |
208 |
3.83e-2 |
SMART |
ZnF_C2H2
|
242 |
264 |
1.6e-4 |
SMART |
ZnF_C2H2
|
270 |
292 |
1.45e-2 |
SMART |
ZnF_C2H2
|
298 |
320 |
5.99e-4 |
SMART |
ZnF_C2H2
|
326 |
348 |
2.15e-5 |
SMART |
ZnF_C2H2
|
354 |
376 |
2.4e-3 |
SMART |
ZnF_C2H2
|
382 |
404 |
1.28e-3 |
SMART |
ZnF_C2H2
|
410 |
432 |
2.09e-3 |
SMART |
ZnF_C2H2
|
438 |
460 |
9.44e-2 |
SMART |
ZnF_C2H2
|
466 |
488 |
3.44e-4 |
SMART |
ZnF_C2H2
|
494 |
516 |
1.5e-4 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000167740
|
SMART Domains |
Protein: ENSMUSP00000132940 Gene: ENSMUSG00000071266
Domain | Start | End | E-Value | Type |
KRAB
|
13 |
71 |
4.49e-17 |
SMART |
ZnF_C2H2
|
186 |
208 |
3.83e-2 |
SMART |
ZnF_C2H2
|
242 |
264 |
1.6e-4 |
SMART |
ZnF_C2H2
|
270 |
292 |
1.45e-2 |
SMART |
ZnF_C2H2
|
298 |
320 |
5.99e-4 |
SMART |
ZnF_C2H2
|
326 |
348 |
2.15e-5 |
SMART |
ZnF_C2H2
|
354 |
376 |
2.4e-3 |
SMART |
ZnF_C2H2
|
382 |
404 |
1.28e-3 |
SMART |
ZnF_C2H2
|
410 |
432 |
2.09e-3 |
SMART |
ZnF_C2H2
|
438 |
460 |
9.44e-2 |
SMART |
ZnF_C2H2
|
466 |
488 |
3.44e-4 |
SMART |
ZnF_C2H2
|
494 |
516 |
1.5e-4 |
SMART |
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
Acsm2 |
C |
T |
7: 119,172,468 (GRCm39) |
H104Y |
probably benign |
Het |
Adgrb3 |
G |
A |
1: 25,167,909 (GRCm39) |
T1009M |
probably damaging |
Het |
Arfgef2 |
A |
G |
2: 166,701,877 (GRCm39) |
K755E |
probably damaging |
Het |
Atm |
A |
T |
9: 53,367,140 (GRCm39) |
D2491E |
probably damaging |
Het |
Bptf |
A |
G |
11: 106,964,077 (GRCm39) |
S1706P |
probably benign |
Het |
Capn13 |
C |
T |
17: 73,674,222 (GRCm39) |
G77D |
possibly damaging |
Het |
Ccdc39 |
T |
C |
3: 33,880,629 (GRCm39) |
K446R |
probably damaging |
Het |
Cdhr18 |
T |
C |
14: 13,862,444 (GRCm38) |
D370G |
probably benign |
Het |
Cep135 |
A |
G |
5: 76,741,962 (GRCm39) |
K133E |
possibly damaging |
Het |
Cyp2c67 |
A |
G |
19: 39,614,585 (GRCm39) |
M314T |
possibly damaging |
Het |
Dennd5b |
T |
C |
6: 148,945,985 (GRCm39) |
D542G |
probably damaging |
Het |
Dpys |
A |
T |
15: 39,687,636 (GRCm39) |
N387K |
probably damaging |
Het |
Erc1 |
A |
T |
6: 119,720,353 (GRCm39) |
D749E |
possibly damaging |
Het |
Gucy2e |
A |
T |
11: 69,126,485 (GRCm39) |
F298L |
probably benign |
Het |
Igsf10 |
A |
G |
3: 59,239,269 (GRCm39) |
V304A |
probably benign |
Het |
Kmt2b |
A |
T |
7: 30,279,912 (GRCm39) |
C1363S |
probably damaging |
Het |
Krt87 |
A |
G |
15: 101,385,711 (GRCm39) |
Y295H |
probably damaging |
Het |
Lmo7 |
T |
C |
14: 102,138,019 (GRCm39) |
V396A |
probably damaging |
Het |
Lpl |
A |
G |
8: 69,345,311 (GRCm39) |
D105G |
probably benign |
Het |
Lrrc45 |
C |
A |
11: 120,606,297 (GRCm39) |
T135N |
probably benign |
Het |
Ltn1 |
C |
T |
16: 87,212,918 (GRCm39) |
A548T |
probably benign |
Het |
Nectin2 |
T |
G |
7: 19,451,523 (GRCm39) |
I504L |
probably benign |
Het |
Nmbr |
T |
C |
10: 14,636,187 (GRCm39) |
I52T |
probably benign |
Het |
Nop14 |
A |
T |
5: 34,807,899 (GRCm39) |
N354K |
probably benign |
Het |
Olfm1 |
A |
G |
2: 28,119,447 (GRCm39) |
I361V |
probably benign |
Het |
Or8g18 |
G |
C |
9: 39,149,547 (GRCm39) |
P58A |
probably benign |
Het |
Ovol1 |
T |
C |
19: 5,603,629 (GRCm39) |
T91A |
probably benign |
Het |
Pigz |
T |
A |
16: 31,760,808 (GRCm39) |
V3E |
possibly damaging |
Het |
Pip4k2b |
T |
C |
11: 97,635,420 (GRCm39) |
N4S |
probably benign |
Het |
Slc23a2 |
A |
T |
2: 131,904,117 (GRCm39) |
|
probably null |
Het |
Slc66a2 |
A |
G |
18: 80,334,813 (GRCm39) |
T211A |
possibly damaging |
Het |
Speg |
A |
T |
1: 75,403,739 (GRCm39) |
D2640V |
probably damaging |
Het |
Trip12 |
G |
A |
1: 84,754,071 (GRCm39) |
Q111* |
probably null |
Het |
Trub2 |
A |
G |
2: 29,672,170 (GRCm39) |
F141S |
probably damaging |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Wdfy4 |
A |
T |
14: 32,693,729 (GRCm39) |
|
probably null |
Het |
Zfp935 |
A |
G |
13: 62,602,355 (GRCm39) |
F282L |
probably damaging |
Het |
Zkscan4 |
A |
G |
13: 21,668,044 (GRCm39) |
E165G |
probably benign |
Het |
|
Other mutations in Zfp946 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01548:Zfp946
|
APN |
17 |
22,673,643 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL01869:Zfp946
|
APN |
17 |
22,673,684 (GRCm39) |
missense |
probably benign |
0.45 |
IGL02037:Zfp946
|
APN |
17 |
22,672,469 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03111:Zfp946
|
APN |
17 |
22,673,537 (GRCm39) |
missense |
possibly damaging |
0.76 |
R0324:Zfp946
|
UTSW |
17 |
22,673,417 (GRCm39) |
missense |
probably benign |
0.41 |
R1733:Zfp946
|
UTSW |
17 |
22,672,538 (GRCm39) |
missense |
probably damaging |
1.00 |
R1971:Zfp946
|
UTSW |
17 |
22,674,406 (GRCm39) |
missense |
probably damaging |
1.00 |
R2064:Zfp946
|
UTSW |
17 |
22,674,446 (GRCm39) |
missense |
probably damaging |
1.00 |
R2106:Zfp946
|
UTSW |
17 |
22,672,466 (GRCm39) |
missense |
probably benign |
0.30 |
R2216:Zfp946
|
UTSW |
17 |
22,673,697 (GRCm39) |
missense |
possibly damaging |
0.49 |
R3899:Zfp946
|
UTSW |
17 |
22,673,531 (GRCm39) |
missense |
probably benign |
0.05 |
R3924:Zfp946
|
UTSW |
17 |
22,674,682 (GRCm39) |
missense |
probably benign |
0.06 |
R4125:Zfp946
|
UTSW |
17 |
22,673,548 (GRCm39) |
nonsense |
probably null |
|
R4493:Zfp946
|
UTSW |
17 |
22,670,067 (GRCm39) |
splice site |
probably null |
|
R4694:Zfp946
|
UTSW |
17 |
22,674,692 (GRCm39) |
missense |
probably benign |
0.16 |
R4924:Zfp946
|
UTSW |
17 |
22,674,502 (GRCm39) |
missense |
probably damaging |
1.00 |
R4939:Zfp946
|
UTSW |
17 |
22,674,418 (GRCm39) |
missense |
probably damaging |
1.00 |
R5020:Zfp946
|
UTSW |
17 |
22,674,584 (GRCm39) |
missense |
probably benign |
0.03 |
R5248:Zfp946
|
UTSW |
17 |
22,673,447 (GRCm39) |
missense |
probably benign |
0.12 |
R5547:Zfp946
|
UTSW |
17 |
22,673,873 (GRCm39) |
missense |
probably benign |
0.00 |
R5551:Zfp946
|
UTSW |
17 |
22,674,365 (GRCm39) |
missense |
probably damaging |
1.00 |
R5573:Zfp946
|
UTSW |
17 |
22,673,676 (GRCm39) |
nonsense |
probably null |
|
R6048:Zfp946
|
UTSW |
17 |
22,673,821 (GRCm39) |
missense |
probably benign |
0.03 |
R6080:Zfp946
|
UTSW |
17 |
22,674,090 (GRCm39) |
missense |
probably benign |
0.00 |
R6198:Zfp946
|
UTSW |
17 |
22,673,896 (GRCm39) |
missense |
probably damaging |
1.00 |
R6332:Zfp946
|
UTSW |
17 |
22,673,519 (GRCm39) |
missense |
probably damaging |
1.00 |
R6766:Zfp946
|
UTSW |
17 |
22,674,752 (GRCm39) |
missense |
probably benign |
0.01 |
R7132:Zfp946
|
UTSW |
17 |
22,673,644 (GRCm39) |
missense |
probably benign |
0.41 |
R7248:Zfp946
|
UTSW |
17 |
22,672,489 (GRCm39) |
nonsense |
probably null |
|
R7695:Zfp946
|
UTSW |
17 |
22,674,002 (GRCm39) |
missense |
probably benign |
0.05 |
R8113:Zfp946
|
UTSW |
17 |
22,674,481 (GRCm39) |
missense |
probably damaging |
1.00 |
R9380:Zfp946
|
UTSW |
17 |
22,673,680 (GRCm39) |
missense |
probably benign |
0.06 |
R9408:Zfp946
|
UTSW |
17 |
22,673,569 (GRCm39) |
missense |
possibly damaging |
0.83 |
X0065:Zfp946
|
UTSW |
17 |
22,674,494 (GRCm39) |
missense |
probably benign |
0.05 |
|
Predicted Primers |
PCR Primer
(F):5'- ACCTTGTCTGTATAAGAGCACCCTGG -3'
(R):5'- GGGACACTGTGTAGCTTTGGTCATC -3'
Sequencing Primer
(F):5'- TCTGTATAAGAGCACCCTGGAAAAC -3'
(R):5'- GAATACAACACTGGATCTTCTTCC -3'
|
Posted On |
2014-01-29 |