Incidental Mutation 'R6420:Zfp846'
| ID |
518153 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp846
|
| Ensembl Gene |
ENSMUSG00000058192 |
| Gene Name |
zinc finger protein 846 |
| Synonyms |
2210010B09Rik |
| MMRRC Submission |
044562-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R6420 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
20492595-20516706 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 20505007 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 289
(L289P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111219
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060063]
[ENSMUST00000115557]
[ENSMUST00000140668]
|
| AlphaFold |
G3X996 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060063
AA Change: L289P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000051593
Gene: ENSMUSG00000058192
AA Change: L289P
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
14 |
74 |
5.69e-28 |
SMART |
|
ZnF_C2H2
|
113 |
137 |
1.02e1 |
SMART |
|
ZnF_C2H2
|
162 |
184 |
8.6e-5 |
SMART |
|
ZnF_C2H2
|
190 |
212 |
1.3e-4 |
SMART |
|
ZnF_C2H2
|
218 |
240 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
246 |
268 |
5.21e-4 |
SMART |
|
ZnF_C2H2
|
274 |
297 |
9.58e-3 |
SMART |
|
ZnF_C2H2
|
303 |
325 |
7.49e-5 |
SMART |
|
ZnF_C2H2
|
331 |
354 |
2.95e-3 |
SMART |
|
ZnF_C2H2
|
360 |
382 |
4.47e-3 |
SMART |
|
ZnF_C2H2
|
388 |
410 |
4.11e-2 |
SMART |
|
ZnF_C2H2
|
416 |
438 |
1.03e-2 |
SMART |
|
ZnF_C2H2
|
444 |
466 |
5.21e-4 |
SMART |
|
ZnF_C2H2
|
472 |
494 |
5.99e-4 |
SMART |
|
ZnF_C2H2
|
500 |
522 |
1.72e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115557
AA Change: L289P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000111219
Gene: ENSMUSG00000058192
AA Change: L289P
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
14 |
74 |
5.69e-28 |
SMART |
|
ZnF_C2H2
|
113 |
137 |
1.02e1 |
SMART |
|
ZnF_C2H2
|
162 |
184 |
8.6e-5 |
SMART |
|
ZnF_C2H2
|
190 |
212 |
1.3e-4 |
SMART |
|
ZnF_C2H2
|
218 |
240 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
246 |
268 |
5.21e-4 |
SMART |
|
ZnF_C2H2
|
274 |
297 |
9.58e-3 |
SMART |
|
ZnF_C2H2
|
303 |
325 |
7.49e-5 |
SMART |
|
ZnF_C2H2
|
331 |
354 |
2.95e-3 |
SMART |
|
ZnF_C2H2
|
360 |
382 |
4.47e-3 |
SMART |
|
ZnF_C2H2
|
388 |
410 |
4.11e-2 |
SMART |
|
ZnF_C2H2
|
416 |
438 |
1.03e-2 |
SMART |
|
ZnF_C2H2
|
444 |
466 |
5.21e-4 |
SMART |
|
ZnF_C2H2
|
472 |
494 |
5.99e-4 |
SMART |
|
ZnF_C2H2
|
500 |
522 |
1.72e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140668
|
| SMART Domains |
Protein: ENSMUSP00000115945
Gene: ENSMUSG00000058192
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
14 |
67 |
1.99e-18 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217655
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (38/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530064D06Rik |
A |
T |
17: 48,473,566 (GRCm39) |
I117N |
probably damaging |
Het |
| Abca15 |
A |
G |
7: 119,996,351 (GRCm39) |
K1426E |
possibly damaging |
Het |
| Arhgef17 |
A |
G |
7: 100,579,269 (GRCm39) |
S560P |
probably damaging |
Het |
| Asb13 |
G |
A |
13: 3,693,574 (GRCm39) |
V111I |
probably damaging |
Het |
| Dhx16 |
A |
G |
17: 36,193,906 (GRCm39) |
E367G |
possibly damaging |
Het |
| Epc2 |
T |
C |
2: 49,341,912 (GRCm39) |
V32A |
probably damaging |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Hdlbp |
T |
C |
1: 93,358,726 (GRCm39) |
E275G |
probably damaging |
Het |
| Kdm7a |
T |
C |
6: 39,142,102 (GRCm39) |
D392G |
probably damaging |
Het |
| Lgmn |
T |
A |
12: 102,389,978 (GRCm39) |
R4* |
probably null |
Het |
| Lrrk2 |
C |
T |
15: 91,696,549 (GRCm39) |
R2446C |
probably benign |
Het |
| Map3k10 |
A |
G |
7: 27,362,709 (GRCm39) |
F459S |
probably damaging |
Het |
| Mup1 |
C |
G |
4: 60,457,758 (GRCm39) |
E31Q |
possibly damaging |
Het |
| Nckap1l |
G |
C |
15: 103,399,893 (GRCm39) |
G1025A |
possibly damaging |
Het |
| Or4d10 |
T |
G |
19: 12,051,324 (GRCm39) |
K224T |
probably benign |
Het |
| Or5b24 |
A |
C |
19: 12,912,584 (GRCm39) |
T161P |
probably damaging |
Het |
| Or8b39 |
T |
A |
9: 37,996,890 (GRCm39) |
S253T |
probably benign |
Het |
| Or8b41 |
T |
G |
9: 38,054,611 (GRCm39) |
L55R |
probably damaging |
Het |
| Or8k38 |
A |
T |
2: 86,488,510 (GRCm39) |
C97* |
probably null |
Het |
| Pik3r5 |
G |
A |
11: 68,366,250 (GRCm39) |
W42* |
probably null |
Het |
| Pkd1l2 |
C |
T |
8: 117,740,638 (GRCm39) |
C2153Y |
probably damaging |
Het |
| Rad1 |
T |
C |
15: 10,488,098 (GRCm39) |
V74A |
probably benign |
Het |
| Scara3 |
C |
T |
14: 66,175,701 (GRCm39) |
G22D |
possibly damaging |
Het |
| Scn1a |
A |
G |
2: 66,103,542 (GRCm39) |
I1906T |
probably damaging |
Het |
| Sema5b |
T |
A |
16: 35,483,516 (GRCm39) |
D1051E |
probably benign |
Het |
| Slc16a12 |
T |
C |
19: 34,650,097 (GRCm39) |
|
probably null |
Het |
| Slc25a23 |
T |
C |
17: 57,359,780 (GRCm39) |
I324V |
probably damaging |
Het |
| Sord |
A |
T |
2: 122,094,602 (GRCm39) |
K330M |
possibly damaging |
Het |
| Spag9 |
T |
C |
11: 93,977,128 (GRCm39) |
V78A |
probably damaging |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Tnrc6a |
A |
G |
7: 122,770,297 (GRCm39) |
T696A |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,542,619 (GRCm39) |
Y33456H |
possibly damaging |
Het |
| Unc45a |
C |
G |
7: 79,989,400 (GRCm39) |
E23Q |
probably benign |
Het |
| Urb2 |
C |
T |
8: 124,773,938 (GRCm39) |
R1490W |
probably damaging |
Het |
| Zfp62 |
A |
T |
11: 49,107,340 (GRCm39) |
N477I |
probably damaging |
Het |
| Zfp959 |
G |
A |
17: 56,205,094 (GRCm39) |
G377D |
probably damaging |
Het |
| Zswim3 |
G |
A |
2: 164,662,653 (GRCm39) |
V378M |
probably damaging |
Het |
|
| Other mutations in Zfp846 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02216:Zfp846
|
APN |
9 |
20,499,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02440:Zfp846
|
APN |
9 |
20,499,796 (GRCm39) |
splice site |
probably benign |
|
|
R0077:Zfp846
|
UTSW |
9 |
20,505,303 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0528:Zfp846
|
UTSW |
9 |
20,499,224 (GRCm39) |
splice site |
probably benign |
|
|
R0675:Zfp846
|
UTSW |
9 |
20,504,853 (GRCm39) |
missense |
probably benign |
|
|
R1116:Zfp846
|
UTSW |
9 |
20,504,559 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R1439:Zfp846
|
UTSW |
9 |
20,505,393 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R3803:Zfp846
|
UTSW |
9 |
20,505,735 (GRCm39) |
missense |
probably benign |
|
|
R4586:Zfp846
|
UTSW |
9 |
20,504,809 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4872:Zfp846
|
UTSW |
9 |
20,502,111 (GRCm39) |
missense |
probably benign |
|
|
R6221:Zfp846
|
UTSW |
9 |
20,504,591 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6416:Zfp846
|
UTSW |
9 |
20,505,016 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6526:Zfp846
|
UTSW |
9 |
20,505,167 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7003:Zfp846
|
UTSW |
9 |
20,499,188 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R7332:Zfp846
|
UTSW |
9 |
20,505,521 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7651:Zfp846
|
UTSW |
9 |
20,499,808 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8254:Zfp846
|
UTSW |
9 |
20,504,587 (GRCm39) |
missense |
probably benign |
|
|
R8724:Zfp846
|
UTSW |
9 |
20,505,352 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8997:Zfp846
|
UTSW |
9 |
20,505,726 (GRCm39) |
missense |
probably benign |
0.41 |
|
R9045:Zfp846
|
UTSW |
9 |
20,505,189 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTTCAAATCTCAATAGACACCTGC -3'
(R):5'- AGGCATCTCTCCACTGTGTG -3'
Sequencing Primer
(F):5'- TGTGGGAAAGCCTTCACTAC -3'
(R):5'- CTCCACTGTGTGTTTTTCTTATATGG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation