Incidental Mutation 'R6672:Zfp605'
| ID |
527166 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp605
|
| Ensembl Gene |
ENSMUSG00000023284 |
| Gene Name |
zinc finger protein 605 |
| Synonyms |
A830023I12Rik |
| MMRRC Submission |
044792-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R6672 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
110257958-110277660 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 110275863 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 327
(H327R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108147
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086686]
[ENSMUST00000112528]
[ENSMUST00000147631]
|
| AlphaFold |
E9QAH2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086686
AA Change: H327R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000083891
Gene: ENSMUSG00000023284
AA Change: H327R
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
6 |
66 |
3.75e-28 |
SMART |
|
low complexity region
|
147 |
159 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
200 |
222 |
1.36e-2 |
SMART |
|
ZnF_C2H2
|
228 |
250 |
4.38e1 |
SMART |
|
ZnF_C2H2
|
305 |
327 |
1.18e-2 |
SMART |
|
ZnF_C2H2
|
333 |
355 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
361 |
383 |
9.73e-4 |
SMART |
|
ZnF_C2H2
|
389 |
411 |
4.99e1 |
SMART |
|
ZnF_C2H2
|
443 |
465 |
5.4e1 |
SMART |
|
ZnF_C2H2
|
471 |
493 |
1.3e-4 |
SMART |
|
ZnF_C2H2
|
499 |
521 |
4.24e-4 |
SMART |
|
ZnF_C2H2
|
527 |
549 |
1.95e-3 |
SMART |
|
ZnF_C2H2
|
555 |
577 |
2.09e-3 |
SMART |
|
ZnF_C2H2
|
583 |
605 |
1.2e-3 |
SMART |
|
ZnF_C2H2
|
611 |
633 |
1.79e-2 |
SMART |
|
ZnF_C2H2
|
639 |
661 |
2.53e-2 |
SMART |
|
ZnF_C2H2
|
667 |
689 |
2.09e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112528
AA Change: H327R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108147
Gene: ENSMUSG00000023284
AA Change: H327R
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
6 |
66 |
3.75e-28 |
SMART |
|
low complexity region
|
147 |
159 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
200 |
222 |
1.36e-2 |
SMART |
|
ZnF_C2H2
|
228 |
250 |
4.38e1 |
SMART |
|
ZnF_C2H2
|
305 |
327 |
1.18e-2 |
SMART |
|
ZnF_C2H2
|
333 |
355 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
361 |
383 |
9.73e-4 |
SMART |
|
ZnF_C2H2
|
389 |
411 |
4.99e1 |
SMART |
|
ZnF_C2H2
|
443 |
465 |
5.4e1 |
SMART |
|
ZnF_C2H2
|
471 |
493 |
1.3e-4 |
SMART |
|
ZnF_C2H2
|
499 |
521 |
4.24e-4 |
SMART |
|
ZnF_C2H2
|
527 |
549 |
1.95e-3 |
SMART |
|
ZnF_C2H2
|
555 |
577 |
2.09e-3 |
SMART |
|
ZnF_C2H2
|
583 |
605 |
1.2e-3 |
SMART |
|
ZnF_C2H2
|
611 |
633 |
1.79e-2 |
SMART |
|
ZnF_C2H2
|
639 |
661 |
2.53e-2 |
SMART |
|
ZnF_C2H2
|
667 |
689 |
2.09e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144089
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147631
|
| SMART Domains |
Protein: ENSMUSP00000122236
Gene: ENSMUSG00000023284
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
6 |
66 |
3.75e-28 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (31/31) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actmap |
C |
T |
7: 26,903,489 (GRCm39) |
|
probably benign |
Het |
| Adam24 |
A |
G |
8: 41,134,572 (GRCm39) |
E680G |
probably benign |
Het |
| Adam7 |
T |
A |
14: 68,742,151 (GRCm39) |
|
probably null |
Het |
| Arid2 |
C |
T |
15: 96,260,226 (GRCm39) |
T351I |
probably benign |
Het |
| Asz1 |
T |
A |
6: 18,075,817 (GRCm39) |
E252V |
possibly damaging |
Het |
| Chrm5 |
C |
T |
2: 112,310,141 (GRCm39) |
C325Y |
probably benign |
Het |
| Cimap1a |
A |
G |
7: 140,428,340 (GRCm39) |
S25G |
probably benign |
Het |
| Cyp2c65 |
A |
G |
19: 39,076,118 (GRCm39) |
R357G |
probably damaging |
Het |
| Dhx36 |
A |
G |
3: 62,402,957 (GRCm39) |
V265A |
probably damaging |
Het |
| Dhx36 |
T |
A |
3: 62,408,300 (GRCm39) |
E179D |
probably benign |
Het |
| Dip2c |
G |
A |
13: 9,617,866 (GRCm39) |
|
probably null |
Het |
| Dock10 |
A |
T |
1: 80,490,248 (GRCm39) |
M1958K |
probably benign |
Het |
| Dpf1 |
T |
C |
7: 29,015,693 (GRCm39) |
C357R |
probably damaging |
Het |
| Dync1h1 |
C |
T |
12: 110,624,568 (GRCm39) |
R3703C |
probably damaging |
Het |
| Eef1g |
A |
G |
19: 8,944,411 (GRCm39) |
|
probably null |
Het |
| Gnl2 |
T |
C |
4: 124,942,186 (GRCm39) |
V397A |
probably damaging |
Het |
| Gramd2b |
A |
G |
18: 56,565,408 (GRCm39) |
E21G |
possibly damaging |
Het |
| Grik3 |
C |
A |
4: 125,517,309 (GRCm39) |
Q51K |
probably benign |
Het |
| Hectd2 |
G |
T |
19: 36,564,780 (GRCm39) |
Q20H |
probably damaging |
Het |
| Krtap5-1 |
A |
G |
7: 141,850,233 (GRCm39) |
C192R |
unknown |
Het |
| Lrpap1 |
A |
T |
5: 35,256,577 (GRCm39) |
M135K |
probably benign |
Het |
| Lrrc9 |
G |
A |
12: 72,520,710 (GRCm39) |
R664H |
possibly damaging |
Het |
| Mef2c |
T |
G |
13: 83,800,975 (GRCm39) |
V225G |
probably damaging |
Het |
| Nlrp9b |
T |
C |
7: 19,753,263 (GRCm39) |
L56P |
probably damaging |
Het |
| Nup133 |
T |
C |
8: 124,643,020 (GRCm39) |
|
probably null |
Het |
| Or12j4 |
G |
A |
7: 140,046,648 (GRCm39) |
C178Y |
probably damaging |
Het |
| Or5ak23 |
T |
A |
2: 85,244,948 (GRCm39) |
I92L |
possibly damaging |
Het |
| Ppp1r3d |
T |
C |
2: 178,055,552 (GRCm39) |
E150G |
possibly damaging |
Het |
| Smpd1 |
A |
G |
7: 105,204,480 (GRCm39) |
M120V |
probably benign |
Het |
| Zbtb46 |
A |
G |
2: 181,053,629 (GRCm39) |
L361P |
probably benign |
Het |
|
| Other mutations in Zfp605 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02388:Zfp605
|
APN |
5 |
110,275,506 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0010:Zfp605
|
UTSW |
5 |
110,275,400 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0357:Zfp605
|
UTSW |
5 |
110,272,245 (GRCm39) |
missense |
probably benign |
|
|
R0383:Zfp605
|
UTSW |
5 |
110,276,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1017:Zfp605
|
UTSW |
5 |
110,275,860 (GRCm39) |
missense |
probably benign |
0.42 |
|
R1663:Zfp605
|
UTSW |
5 |
110,275,451 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1688:Zfp605
|
UTSW |
5 |
110,276,907 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1752:Zfp605
|
UTSW |
5 |
110,271,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1994:Zfp605
|
UTSW |
5 |
110,275,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2173:Zfp605
|
UTSW |
5 |
110,275,323 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3740:Zfp605
|
UTSW |
5 |
110,276,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3742:Zfp605
|
UTSW |
5 |
110,276,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3981:Zfp605
|
UTSW |
5 |
110,275,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4095:Zfp605
|
UTSW |
5 |
110,275,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4349:Zfp605
|
UTSW |
5 |
110,276,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4669:Zfp605
|
UTSW |
5 |
110,275,227 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4914:Zfp605
|
UTSW |
5 |
110,275,567 (GRCm39) |
nonsense |
probably null |
|
|
R4994:Zfp605
|
UTSW |
5 |
110,275,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6814:Zfp605
|
UTSW |
5 |
110,275,311 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6872:Zfp605
|
UTSW |
5 |
110,275,311 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7251:Zfp605
|
UTSW |
5 |
110,275,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7395:Zfp605
|
UTSW |
5 |
110,259,885 (GRCm39) |
start gained |
probably benign |
|
|
R7560:Zfp605
|
UTSW |
5 |
110,275,157 (GRCm39) |
nonsense |
probably null |
|
|
R7623:Zfp605
|
UTSW |
5 |
110,275,386 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7965:Zfp605
|
UTSW |
5 |
110,275,316 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7999:Zfp605
|
UTSW |
5 |
110,276,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8307:Zfp605
|
UTSW |
5 |
110,276,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8355:Zfp605
|
UTSW |
5 |
110,259,848 (GRCm39) |
start gained |
probably benign |
|
|
R8455:Zfp605
|
UTSW |
5 |
110,259,848 (GRCm39) |
start gained |
probably benign |
|
|
X0063:Zfp605
|
UTSW |
5 |
110,271,714 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGCAGAGAACTCACACTGG -3'
(R):5'- AGGAGCTGTGACTTTTCAGG -3'
Sequencing Primer
(F):5'- GACAGAAGCCCTATGCACGTG -3'
(R):5'- GGTTTTCCGATGAAGGCCTCAC -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation