Incidental Mutation 'R5573:Zfp946'
| ID |
435797 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp946
|
| Ensembl Gene |
ENSMUSG00000071266 |
| Gene Name |
zinc finger protein 946 |
| Synonyms |
1300003B13Rik |
| MMRRC Submission |
043128-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R5573 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
22643203-22675670 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 22673676 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 143
(C143*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132940
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088763]
[ENSMUST00000120222]
[ENSMUST00000167740]
|
| AlphaFold |
F6VWU8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000088763
AA Change: C143*
|
| SMART Domains |
Protein: ENSMUSP00000086141
Gene: ENSMUSG00000071266
AA Change: C143*
| 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
AA Change: C143*
|
| SMART Domains |
Protein: ENSMUSP00000113244
Gene: ENSMUSG00000071266
AA Change: C143*
| 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
AA Change: C143*
|
| SMART Domains |
Protein: ENSMUSP00000132940
Gene: ENSMUSG00000071266
AA Change: C143*
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef28 |
A |
T |
13: 98,065,999 (GRCm39) |
V1618D |
probably benign |
Het |
| Asic5 |
T |
A |
3: 81,911,791 (GRCm39) |
F129Y |
probably benign |
Het |
| Cachd1 |
A |
C |
4: 100,831,276 (GRCm39) |
K689N |
probably damaging |
Het |
| Cbfa2t2 |
A |
G |
2: 154,278,782 (GRCm39) |
|
probably benign |
Het |
| Cdh26 |
T |
C |
2: 178,108,482 (GRCm39) |
V360A |
probably damaging |
Het |
| Col9a3 |
C |
T |
2: 180,261,525 (GRCm39) |
A605V |
probably benign |
Het |
| Csn3 |
A |
G |
5: 88,077,910 (GRCm39) |
T139A |
probably benign |
Het |
| Ddx27 |
G |
T |
2: 166,859,806 (GRCm39) |
K79N |
possibly damaging |
Het |
| Dhx29 |
G |
A |
13: 113,069,749 (GRCm39) |
D211N |
probably benign |
Het |
| Dlg2 |
A |
G |
7: 91,646,532 (GRCm39) |
|
probably null |
Het |
| Dse |
C |
A |
10: 34,028,678 (GRCm39) |
R804L |
probably benign |
Het |
| Fgb |
T |
C |
3: 82,956,984 (GRCm39) |
|
probably null |
Het |
| Gm11011 |
A |
T |
2: 169,429,392 (GRCm39) |
I31K |
unknown |
Het |
| Hira |
A |
G |
16: 18,735,349 (GRCm39) |
T272A |
probably damaging |
Het |
| Lcmt1 |
T |
A |
7: 123,000,686 (GRCm39) |
H117Q |
probably benign |
Het |
| Mettl23 |
A |
G |
11: 116,734,437 (GRCm39) |
|
probably benign |
Het |
| Mtmr2 |
T |
C |
9: 13,704,463 (GRCm39) |
Y197H |
probably benign |
Het |
| Myo9a |
T |
G |
9: 59,778,284 (GRCm39) |
S1347A |
probably benign |
Het |
| Myrfl |
A |
G |
10: 116,658,661 (GRCm39) |
V432A |
probably damaging |
Het |
| Npdc1 |
G |
A |
2: 25,298,957 (GRCm39) |
D284N |
probably damaging |
Het |
| Obscn |
G |
T |
11: 58,925,531 (GRCm39) |
H6347Q |
possibly damaging |
Het |
| Or52r1b |
A |
T |
7: 102,691,547 (GRCm39) |
Y282F |
probably damaging |
Het |
| Or8b53 |
T |
A |
9: 38,667,000 (GRCm39) |
N5K |
probably damaging |
Het |
| Peg10 |
A |
G |
6: 4,755,913 (GRCm39) |
|
probably benign |
Het |
| Pfkfb3 |
A |
G |
2: 11,506,483 (GRCm39) |
V10A |
probably benign |
Het |
| Phf12 |
A |
G |
11: 77,915,871 (GRCm39) |
D175G |
probably damaging |
Het |
| Plekhg6 |
T |
G |
6: 125,352,755 (GRCm39) |
I131L |
possibly damaging |
Het |
| Ptbp3 |
A |
G |
4: 59,485,626 (GRCm39) |
V95A |
probably damaging |
Het |
| Rbbp8 |
A |
G |
18: 11,855,664 (GRCm39) |
T604A |
probably benign |
Het |
| Rbbp8nl |
G |
A |
2: 179,921,586 (GRCm39) |
P266L |
possibly damaging |
Het |
| Ryr1 |
T |
C |
7: 28,715,148 (GRCm39) |
S4659G |
unknown |
Het |
| Serpinb9d |
A |
G |
13: 33,380,423 (GRCm39) |
|
probably null |
Het |
| Slc22a28 |
A |
C |
19: 8,048,462 (GRCm39) |
I395S |
possibly damaging |
Het |
| Slco6c1 |
T |
A |
1: 97,055,656 (GRCm39) |
I82L |
probably benign |
Het |
| Sptan1 |
C |
T |
2: 29,876,504 (GRCm39) |
R295* |
probably null |
Het |
| Tdrd9 |
C |
T |
12: 111,964,336 (GRCm39) |
|
probably null |
Het |
| Ube2v2 |
A |
G |
16: 15,374,343 (GRCm39) |
L77P |
possibly damaging |
Het |
| Ugt3a1 |
T |
C |
15: 9,361,769 (GRCm39) |
S182P |
probably damaging |
Het |
| Vwa5b1 |
T |
C |
4: 138,336,201 (GRCm39) |
E131G |
probably damaging |
Het |
| Wdr18 |
C |
T |
10: 79,800,872 (GRCm39) |
A145V |
probably benign |
Het |
| Xpnpep1 |
A |
G |
19: 52,993,253 (GRCm39) |
I358T |
probably damaging |
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 |
|
R1252:Zfp946
|
UTSW |
17 |
22,672,560 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
|
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'- CAGCAAATTGTCCACCAGCATTTG -3'
(R):5'- GCTGATGACTTTTAAGATCGCATAG -3'
Sequencing Primer
(F):5'- TGTCCACCAGCATTTGAATATCCAAG -3'
(R):5'- ATAGCTGGGTGAAGCATTCCTCAC -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation