Incidental Mutation 'R1017:Zfp605'
| ID |
96433 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp605
|
| Ensembl Gene |
ENSMUSG00000023284 |
| Gene Name |
zinc finger protein 605 |
| Synonyms |
A830023I12Rik |
| MMRRC Submission |
039121-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R1017 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
110257958-110277660 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 110275860 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 326
(T326I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108147
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086686]
[ENSMUST00000112528]
[ENSMUST00000147631]
|
| AlphaFold |
E9QAH2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086686
AA Change: T326I
PolyPhen 2
Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000083891
Gene: ENSMUSG00000023284
AA Change: T326I
| 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 benign
Transcript: ENSMUST00000112528
AA Change: T326I
PolyPhen 2
Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000108147
Gene: ENSMUSG00000023284
AA Change: T326I
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 98.8%
- 10x: 96.8%
- 20x: 93.4%
|
| Validation Efficiency |
98% (47/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acrbp |
C |
T |
6: 125,038,223 (GRCm39) |
|
probably benign |
Het |
| Ahnak |
A |
T |
19: 8,987,907 (GRCm39) |
I3064F |
probably damaging |
Het |
| Arhgef10l |
C |
A |
4: 140,242,617 (GRCm39) |
R884L |
probably damaging |
Het |
| Baiap2l2 |
A |
G |
15: 79,145,443 (GRCm39) |
F317L |
probably benign |
Het |
| Brinp2 |
A |
T |
1: 158,077,021 (GRCm39) |
I358N |
probably damaging |
Het |
| Ccin |
A |
G |
4: 43,985,222 (GRCm39) |
D543G |
probably benign |
Het |
| Cdh23 |
T |
A |
10: 60,167,572 (GRCm39) |
D1806V |
probably damaging |
Het |
| Cdh6 |
C |
T |
15: 13,051,562 (GRCm39) |
R357Q |
probably benign |
Het |
| Cpa3 |
T |
C |
3: 20,293,797 (GRCm39) |
M64V |
possibly damaging |
Het |
| Ctnnb1 |
T |
A |
9: 120,779,794 (GRCm39) |
F74I |
probably damaging |
Het |
| Cyp7a1 |
A |
T |
4: 6,272,307 (GRCm39) |
I302N |
probably damaging |
Het |
| Dnase1l2 |
C |
T |
17: 24,661,446 (GRCm39) |
A56T |
probably benign |
Het |
| Dscam |
T |
A |
16: 96,634,633 (GRCm39) |
D190V |
probably damaging |
Het |
| Fer1l4 |
T |
C |
2: 155,891,398 (GRCm39) |
|
probably null |
Het |
| Fscb |
T |
A |
12: 64,520,242 (GRCm39) |
D408V |
probably benign |
Het |
| Gm10306 |
A |
G |
4: 94,444,957 (GRCm39) |
|
probably benign |
Het |
| Gon4l |
T |
A |
3: 88,765,803 (GRCm39) |
M409K |
probably benign |
Het |
| Gsx2 |
T |
C |
5: 75,237,923 (GRCm39) |
S292P |
probably damaging |
Het |
| Hira |
T |
A |
16: 18,718,097 (GRCm39) |
|
probably null |
Het |
| Hoxa3 |
G |
T |
6: 52,149,386 (GRCm39) |
|
probably null |
Het |
| Irak3 |
T |
C |
10: 119,978,789 (GRCm39) |
E554G |
possibly damaging |
Het |
| Itgb3bp |
A |
G |
4: 99,657,724 (GRCm39) |
|
probably benign |
Het |
| Kifc3 |
C |
T |
8: 95,832,413 (GRCm39) |
D379N |
probably damaging |
Het |
| Lama5 |
A |
G |
2: 179,837,213 (GRCm39) |
V1032A |
probably damaging |
Het |
| Lmln |
T |
G |
16: 32,908,546 (GRCm39) |
I324R |
probably benign |
Het |
| Ltbp4 |
A |
G |
7: 27,005,501 (GRCm39) |
S1547P |
possibly damaging |
Het |
| Mdga1 |
T |
A |
17: 30,069,522 (GRCm39) |
T175S |
probably damaging |
Het |
| Mrps6 |
T |
A |
16: 91,855,346 (GRCm39) |
L8* |
probably null |
Het |
| Mtmr11 |
A |
C |
3: 96,071,794 (GRCm39) |
T203P |
probably damaging |
Het |
| Nat8f7 |
T |
C |
6: 85,684,552 (GRCm39) |
D96G |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,889,179 (GRCm39) |
E7531G |
unknown |
Het |
| Or2k2 |
A |
T |
4: 58,785,115 (GRCm39) |
S202R |
probably damaging |
Het |
| Or8k25 |
A |
T |
2: 86,243,855 (GRCm39) |
D180E |
probably damaging |
Het |
| Or8k27 |
A |
T |
2: 86,275,772 (GRCm39) |
L185I |
probably benign |
Het |
| Osbpl6 |
A |
G |
2: 76,380,063 (GRCm39) |
Y69C |
probably damaging |
Het |
| Polrmt |
C |
T |
10: 79,579,343 (GRCm39) |
W136* |
probably null |
Het |
| Raver1 |
T |
C |
9: 20,990,886 (GRCm39) |
|
probably benign |
Het |
| Rims4 |
C |
T |
2: 163,705,849 (GRCm39) |
V262M |
possibly damaging |
Het |
| Rsl1d1 |
T |
C |
16: 11,021,116 (GRCm39) |
K2E |
probably benign |
Het |
| Sik3 |
C |
T |
9: 46,107,107 (GRCm39) |
T417I |
probably benign |
Het |
| Spdl1 |
T |
C |
11: 34,710,117 (GRCm39) |
K388R |
possibly damaging |
Het |
| Tulp1 |
T |
C |
17: 28,583,277 (GRCm39) |
R88G |
probably damaging |
Het |
| Vldlr |
A |
C |
19: 27,218,733 (GRCm39) |
Y528S |
probably damaging |
Het |
| Zdhhc14 |
T |
A |
17: 5,543,924 (GRCm39) |
L68H |
probably damaging |
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 |
|
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 |
|
R6672:Zfp605
|
UTSW |
5 |
110,275,863 (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'- GCAGCAGAGAACTCACACTGGACA -3'
(R):5'- GAGGTTCGACTTCTCAGTGAAGGC -3'
Sequencing Primer
(F):5'- CTGGACAGAAGCCCTATGC -3'
(R):5'- tttttccacactcagcacac -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation