Incidental Mutation 'R7847:Zfp341'
| ID |
606668 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp341
|
| Ensembl Gene |
ENSMUSG00000059842 |
| Gene Name |
zinc finger protein 341 |
| Synonyms |
|
| MMRRC Submission |
045901-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7847 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
154455217-154488741 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 154476114 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 441
(S441P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080596
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081926]
[ENSMUST00000109702]
[ENSMUST00000126421]
|
| AlphaFold |
Q6PGC9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000081926
AA Change: S441P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000080596
Gene: ENSMUSG00000059842
AA Change: S441P
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
53 |
73 |
4.16e1 |
SMART |
|
low complexity region
|
96 |
110 |
N/A |
INTRINSIC |
|
low complexity region
|
154 |
161 |
N/A |
INTRINSIC |
|
low complexity region
|
177 |
200 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
320 |
342 |
3.69e-4 |
SMART |
|
ZnF_C2H2
|
348 |
370 |
1.04e-3 |
SMART |
|
ZnF_C2H2
|
442 |
464 |
1.45e-2 |
SMART |
|
ZnF_C2H2
|
470 |
494 |
2.17e-1 |
SMART |
|
ZnF_C2H2
|
500 |
522 |
2.91e-2 |
SMART |
|
ZnF_C2H2
|
537 |
561 |
1.23e0 |
SMART |
|
ZnF_C2H2
|
563 |
585 |
3.58e-2 |
SMART |
|
ZnF_C2H2
|
591 |
613 |
1.62e0 |
SMART |
|
ZnF_C2H2
|
619 |
641 |
2.27e-4 |
SMART |
|
ZnF_C2H2
|
647 |
674 |
7.29e0 |
SMART |
|
ZnF_C2H2
|
680 |
702 |
5.14e-3 |
SMART |
|
low complexity region
|
740 |
759 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109702
AA Change: S434P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105324
Gene: ENSMUSG00000059842
AA Change: S434P
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
53 |
73 |
4.16e1 |
SMART |
|
low complexity region
|
96 |
110 |
N/A |
INTRINSIC |
|
low complexity region
|
154 |
161 |
N/A |
INTRINSIC |
|
low complexity region
|
177 |
200 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
313 |
335 |
3.69e-4 |
SMART |
|
ZnF_C2H2
|
341 |
363 |
1.04e-3 |
SMART |
|
ZnF_C2H2
|
435 |
457 |
1.45e-2 |
SMART |
|
ZnF_C2H2
|
463 |
487 |
2.17e-1 |
SMART |
|
ZnF_C2H2
|
493 |
515 |
2.91e-2 |
SMART |
|
ZnF_C2H2
|
530 |
554 |
1.23e0 |
SMART |
|
ZnF_C2H2
|
556 |
578 |
3.58e-2 |
SMART |
|
ZnF_C2H2
|
584 |
606 |
1.62e0 |
SMART |
|
ZnF_C2H2
|
612 |
634 |
2.27e-4 |
SMART |
|
ZnF_C2H2
|
640 |
667 |
7.29e0 |
SMART |
|
ZnF_C2H2
|
673 |
695 |
5.14e-3 |
SMART |
|
low complexity region
|
733 |
752 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126421
|
| Meta Mutation Damage Score |
0.3188 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (45/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300002M23Rik |
T |
A |
17: 35,879,549 (GRCm39) |
Y296N |
probably benign |
Het |
| Abcc4 |
T |
C |
14: 118,864,892 (GRCm39) |
E378G |
probably damaging |
Het |
| Acp2 |
C |
T |
2: 91,041,077 (GRCm39) |
H422Y |
possibly damaging |
Het |
| Aldoart1 |
C |
T |
4: 72,770,193 (GRCm39) |
C205Y |
probably damaging |
Het |
| Alg9 |
T |
C |
9: 50,700,905 (GRCm39) |
L225S |
possibly damaging |
Het |
| Anapc1 |
A |
C |
2: 128,511,828 (GRCm39) |
V455G |
possibly damaging |
Het |
| Arhgef5 |
C |
A |
6: 43,252,069 (GRCm39) |
S940* |
probably null |
Het |
| Asb15 |
C |
A |
6: 24,564,266 (GRCm39) |
A240E |
probably damaging |
Het |
| BB014433 |
GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG |
GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG |
8: 15,092,160 (GRCm39) |
|
probably benign |
Het |
| Ccdc17 |
A |
G |
4: 116,457,103 (GRCm39) |
E529G |
probably benign |
Het |
| Cyp2b10 |
T |
C |
7: 25,597,185 (GRCm39) |
S26P |
possibly damaging |
Het |
| Dcp1b |
T |
C |
6: 119,192,256 (GRCm39) |
S391P |
probably benign |
Het |
| Dock6 |
A |
T |
9: 21,712,503 (GRCm39) |
L2086Q |
unknown |
Het |
| Ephx1 |
A |
G |
1: 180,829,426 (GRCm39) |
S41P |
probably benign |
Het |
| Erbb3 |
G |
A |
10: 128,407,058 (GRCm39) |
T1034M |
probably damaging |
Het |
| Gm17334 |
T |
A |
11: 53,663,564 (GRCm39) |
|
probably benign |
Het |
| Golgb1 |
A |
G |
16: 36,752,282 (GRCm39) |
H3227R |
probably damaging |
Het |
| Grin2c |
G |
A |
11: 115,151,804 (GRCm39) |
P52L |
possibly damaging |
Het |
| Herc2 |
T |
C |
7: 55,807,308 (GRCm39) |
|
probably null |
Het |
| Il17rb |
A |
G |
14: 29,718,763 (GRCm39) |
Y440H |
probably damaging |
Het |
| Kcng4 |
A |
G |
8: 120,352,881 (GRCm39) |
L343P |
probably damaging |
Het |
| Knl1 |
G |
A |
2: 118,901,457 (GRCm39) |
E1053K |
probably benign |
Het |
| Lipo4 |
A |
T |
19: 33,491,599 (GRCm39) |
V128E |
possibly damaging |
Het |
| Lmntd2 |
T |
C |
7: 140,790,063 (GRCm39) |
N650D |
probably benign |
Het |
| Lrrfip2 |
T |
C |
9: 111,042,948 (GRCm39) |
L460P |
probably damaging |
Het |
| Man2a2 |
G |
C |
7: 80,018,613 (GRCm39) |
A82G |
probably benign |
Het |
| Mtcl1 |
T |
C |
17: 66,651,328 (GRCm39) |
Q1379R |
probably damaging |
Het |
| Mtfr2 |
G |
A |
10: 20,233,198 (GRCm39) |
A256T |
probably benign |
Het |
| Mup17 |
T |
A |
4: 61,511,456 (GRCm39) |
H159L |
probably benign |
Het |
| Ndufaf1 |
A |
T |
2: 119,490,534 (GRCm39) |
D175E |
probably damaging |
Het |
| Nup210l |
A |
G |
3: 90,058,430 (GRCm39) |
M610V |
probably benign |
Het |
| Or10ak14 |
G |
T |
4: 118,611,565 (GRCm39) |
H59N |
possibly damaging |
Het |
| Or7a38 |
T |
A |
10: 78,752,730 (GRCm39) |
S19T |
probably benign |
Het |
| Or8g35 |
A |
G |
9: 39,381,801 (GRCm39) |
S74P |
probably benign |
Het |
| Pard3b |
A |
G |
1: 62,383,093 (GRCm39) |
D729G |
probably benign |
Het |
| Phactr1 |
T |
C |
13: 43,210,664 (GRCm39) |
L169P |
possibly damaging |
Het |
| Rad54b |
T |
A |
4: 11,612,655 (GRCm39) |
S762R |
probably damaging |
Het |
| Senp5 |
C |
T |
16: 31,808,991 (GRCm39) |
V88I |
probably benign |
Het |
| Specc1l |
T |
C |
10: 75,145,670 (GRCm39) |
V1105A |
probably damaging |
Het |
| Trak2 |
A |
C |
1: 58,974,977 (GRCm39) |
S72A |
possibly damaging |
Het |
| Ttyh2 |
T |
C |
11: 114,566,500 (GRCm39) |
|
probably null |
Het |
| Ush2a |
G |
A |
1: 188,163,005 (GRCm39) |
C1029Y |
probably damaging |
Het |
| Vmn2r17 |
A |
G |
5: 109,568,063 (GRCm39) |
Y62C |
probably damaging |
Het |
| Vmn2r41 |
A |
G |
7: 8,164,547 (GRCm39) |
F2L |
probably benign |
Het |
| Xirp1 |
G |
T |
9: 119,848,819 (GRCm39) |
D21E |
possibly damaging |
Het |
| Zfp114 |
C |
A |
7: 23,880,460 (GRCm39) |
Q270K |
possibly damaging |
Het |
| Zfp780b |
A |
C |
7: 27,663,843 (GRCm39) |
H237Q |
probably benign |
Het |
|
| Other mutations in Zfp341 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00499:Zfp341
|
APN |
2 |
154,476,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01352:Zfp341
|
APN |
2 |
154,470,816 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01748:Zfp341
|
APN |
2 |
154,470,847 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02260:Zfp341
|
APN |
2 |
154,483,969 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02329:Zfp341
|
APN |
2 |
154,474,224 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
casanova_grimbacher
|
UTSW |
2 |
154,466,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Specious
|
UTSW |
2 |
154,488,054 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R0079:Zfp341
|
UTSW |
2 |
154,466,914 (GRCm39) |
nonsense |
probably null |
|
|
R0570:Zfp341
|
UTSW |
2 |
154,487,988 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0620:Zfp341
|
UTSW |
2 |
154,476,193 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1018:Zfp341
|
UTSW |
2 |
154,487,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1611:Zfp341
|
UTSW |
2 |
154,487,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1733:Zfp341
|
UTSW |
2 |
154,483,298 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1822:Zfp341
|
UTSW |
2 |
154,488,054 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R1956:Zfp341
|
UTSW |
2 |
154,480,132 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2437:Zfp341
|
UTSW |
2 |
154,470,721 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3623:Zfp341
|
UTSW |
2 |
154,466,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4417:Zfp341
|
UTSW |
2 |
154,470,907 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4806:Zfp341
|
UTSW |
2 |
154,487,786 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4807:Zfp341
|
UTSW |
2 |
154,487,786 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4863:Zfp341
|
UTSW |
2 |
154,487,786 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4955:Zfp341
|
UTSW |
2 |
154,479,950 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4962:Zfp341
|
UTSW |
2 |
154,468,734 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5484:Zfp341
|
UTSW |
2 |
154,466,921 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5864:Zfp341
|
UTSW |
2 |
154,485,474 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5877:Zfp341
|
UTSW |
2 |
154,474,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5975:Zfp341
|
UTSW |
2 |
154,472,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5990:Zfp341
|
UTSW |
2 |
154,487,579 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6057:Zfp341
|
UTSW |
2 |
154,466,954 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6882:Zfp341
|
UTSW |
2 |
154,479,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7686:Zfp341
|
UTSW |
2 |
154,466,781 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7701:Zfp341
|
UTSW |
2 |
154,476,000 (GRCm39) |
splice site |
probably null |
|
|
R8109:Zfp341
|
UTSW |
2 |
154,469,820 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9313:Zfp341
|
UTSW |
2 |
154,469,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9484:Zfp341
|
UTSW |
2 |
154,485,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCTTGAACACAGCGTGTG -3'
(R):5'- TATCATTTCTCCAGGCAGCAGG -3'
Sequencing Primer
(F):5'- AAGTCTGCAGTAGGTGTCCCAG -3'
(R):5'- GCAGCAGGGGTGTGACC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation