Incidental Mutation 'R4681:Zfp408'
| ID |
350013 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp408
|
| Ensembl Gene |
ENSMUSG00000075040 |
| Gene Name |
zinc finger protein 408 |
| Synonyms |
LOC381410 |
| MMRRC Submission |
042015-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4681 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
91474014-91480136 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 91476131 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 341
(P341L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106965
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090614]
[ENSMUST00000099714]
[ENSMUST00000111329]
[ENSMUST00000111331]
[ENSMUST00000111333]
[ENSMUST00000145582]
|
| AlphaFold |
H7BX78 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090614
|
| SMART Domains |
Protein: ENSMUSP00000088105
Gene: ENSMUSG00000027247
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
42 |
52 |
N/A |
INTRINSIC |
|
SEC14
|
64 |
215 |
5.08e-25 |
SMART |
|
low complexity region
|
224 |
238 |
N/A |
INTRINSIC |
|
RhoGAP
|
257 |
428 |
1.06e-61 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099714
AA Change: P441L
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000097301
Gene: ENSMUSG00000075040
AA Change: P441L
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
344 |
366 |
7.05e-1 |
SMART |
|
ZnF_C2H2
|
372 |
394 |
1.67e-2 |
SMART |
|
ZnF_C2H2
|
400 |
422 |
2.24e-3 |
SMART |
|
ZnF_C2H2
|
428 |
450 |
8.6e-5 |
SMART |
|
ZnF_C2H2
|
459 |
481 |
5.9e-3 |
SMART |
|
ZnF_C2H2
|
487 |
509 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
515 |
537 |
2.95e-3 |
SMART |
|
ZnF_C2H2
|
542 |
564 |
2.2e-2 |
SMART |
|
ZnF_C2H2
|
570 |
592 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
598 |
620 |
3.89e-3 |
SMART |
|
low complexity region
|
625 |
638 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111329
|
| SMART Domains |
Protein: ENSMUSP00000106961
Gene: ENSMUSG00000027247
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
42 |
52 |
N/A |
INTRINSIC |
|
SEC14
|
64 |
215 |
5.08e-25 |
SMART |
|
low complexity region
|
224 |
238 |
N/A |
INTRINSIC |
|
RhoGAP
|
257 |
428 |
1.06e-61 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111331
|
| SMART Domains |
Protein: ENSMUSP00000106963
Gene: ENSMUSG00000027247
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
44 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
82 |
92 |
N/A |
INTRINSIC |
|
SEC14
|
104 |
255 |
5.08e-25 |
SMART |
|
low complexity region
|
264 |
278 |
N/A |
INTRINSIC |
|
RhoGAP
|
297 |
468 |
1.06e-61 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111333
AA Change: P341L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106965
Gene: ENSMUSG00000075040
AA Change: P341L
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
244 |
266 |
7.05e-1 |
SMART |
|
ZnF_C2H2
|
272 |
294 |
1.67e-2 |
SMART |
|
ZnF_C2H2
|
300 |
322 |
2.24e-3 |
SMART |
|
ZnF_C2H2
|
328 |
350 |
8.6e-5 |
SMART |
|
ZnF_C2H2
|
359 |
381 |
5.9e-3 |
SMART |
|
ZnF_C2H2
|
387 |
409 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
415 |
437 |
2.95e-3 |
SMART |
|
ZnF_C2H2
|
442 |
464 |
2.2e-2 |
SMART |
|
ZnF_C2H2
|
470 |
492 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
498 |
520 |
3.89e-3 |
SMART |
|
low complexity region
|
525 |
538 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000117988
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127702
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152769
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155045
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145582
|
| Meta Mutation Damage Score |
0.1047 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.1%
|
| Validation Efficiency |
100% (59/59) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains ten tandem zinc fingers and an N-terminal SET domain, so it is likely a DNA binding protein that interacts with other proteins. In adults, the encoded protein is expressed most highly in retina. Consequently, defects in this gene have been associated with familial exudative vitreoretinopathy (FEVR) and retinitis pigmentosa (RP). [provided by RefSeq, Dec 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahctf1 |
G |
T |
1: 179,580,361 (GRCm39) |
T1947K |
probably benign |
Het |
| Ak9 |
A |
C |
10: 41,303,234 (GRCm39) |
K1669T |
unknown |
Het |
| Atp4b |
T |
C |
8: 13,439,700 (GRCm39) |
E174G |
probably benign |
Het |
| Bcl6 |
A |
G |
16: 23,787,203 (GRCm39) |
|
probably benign |
Het |
| Brca2 |
C |
G |
5: 150,475,863 (GRCm39) |
|
probably null |
Het |
| Btnl4 |
A |
T |
17: 34,689,075 (GRCm39) |
|
probably null |
Het |
| C4a |
G |
T |
17: 35,036,075 (GRCm39) |
|
noncoding transcript |
Het |
| Cab39l |
A |
G |
14: 59,737,054 (GRCm39) |
D58G |
probably benign |
Het |
| Cacna2d3 |
A |
T |
14: 29,015,092 (GRCm39) |
M100K |
probably damaging |
Het |
| Car2 |
T |
A |
3: 14,960,624 (GRCm39) |
Y127* |
probably null |
Het |
| Cdhr1 |
T |
C |
14: 36,818,194 (GRCm39) |
N86S |
probably benign |
Het |
| Celsr3 |
A |
G |
9: 108,704,953 (GRCm39) |
I479V |
possibly damaging |
Het |
| Cfhr1 |
A |
T |
1: 139,478,667 (GRCm39) |
Y53* |
probably null |
Het |
| Cgrrf1 |
A |
G |
14: 47,091,283 (GRCm39) |
E269G |
probably benign |
Het |
| Cimap3 |
C |
A |
3: 105,905,701 (GRCm39) |
G148C |
probably damaging |
Het |
| Clcn7 |
A |
T |
17: 25,376,935 (GRCm39) |
H636L |
probably damaging |
Het |
| Cox10 |
T |
G |
11: 63,867,277 (GRCm39) |
T240P |
possibly damaging |
Het |
| Crybg2 |
CTTCCAGAGCCATGGACCCATCTTTTCCA |
CTTCCA |
4: 133,800,029 (GRCm39) |
|
probably null |
Het |
| Dbt |
A |
G |
3: 116,326,963 (GRCm39) |
D104G |
probably damaging |
Het |
| F730035P03Rik |
T |
C |
7: 99,429,425 (GRCm39) |
|
noncoding transcript |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fam186b |
T |
C |
15: 99,178,771 (GRCm39) |
K185R |
probably benign |
Het |
| Fat4 |
T |
C |
3: 38,941,491 (GRCm39) |
L128P |
probably damaging |
Het |
| Gbf1 |
A |
T |
19: 46,268,989 (GRCm39) |
Q1381L |
probably benign |
Het |
| Glp2r |
C |
T |
11: 67,621,453 (GRCm39) |
|
probably null |
Het |
| Gm18025 |
A |
G |
12: 34,340,884 (GRCm39) |
S70P |
probably benign |
Het |
| Gpr45 |
A |
G |
1: 43,072,068 (GRCm39) |
D237G |
probably benign |
Het |
| Hectd4 |
A |
T |
5: 121,441,678 (GRCm39) |
L1213F |
possibly damaging |
Het |
| Hydin |
T |
C |
8: 111,233,103 (GRCm39) |
V1734A |
possibly damaging |
Het |
| Kcnh5 |
A |
T |
12: 75,054,397 (GRCm39) |
S516T |
probably benign |
Het |
| Liph |
A |
C |
16: 21,802,777 (GRCm39) |
S97R |
probably benign |
Het |
| Mtcl1 |
T |
C |
17: 66,756,139 (GRCm39) |
T68A |
unknown |
Het |
| Nsun7 |
T |
A |
5: 66,418,542 (GRCm39) |
S91T |
probably benign |
Het |
| Or5an10 |
T |
C |
19: 12,276,413 (GRCm39) |
T28A |
probably benign |
Het |
| Or6c75 |
A |
G |
10: 129,337,433 (GRCm39) |
I227V |
probably damaging |
Het |
| Pcdh20 |
A |
T |
14: 88,705,052 (GRCm39) |
N749K |
probably damaging |
Het |
| Pot1b |
A |
T |
17: 55,961,831 (GRCm39) |
D582E |
probably benign |
Het |
| Pxdn |
T |
C |
12: 30,062,325 (GRCm39) |
I1212T |
probably benign |
Het |
| Ramp1 |
T |
C |
1: 91,124,511 (GRCm39) |
V24A |
probably benign |
Het |
| S100a8 |
T |
A |
3: 90,576,890 (GRCm39) |
D14E |
probably benign |
Het |
| Stk31 |
A |
G |
6: 49,414,369 (GRCm39) |
D501G |
probably benign |
Het |
| Tbc1d19 |
G |
A |
5: 54,029,595 (GRCm39) |
V319M |
probably damaging |
Het |
| Tbcel |
G |
T |
9: 42,361,268 (GRCm39) |
H93Q |
probably damaging |
Het |
| Traf3ip2 |
C |
T |
10: 39,515,256 (GRCm39) |
P345S |
possibly damaging |
Het |
| Trpm8 |
A |
T |
1: 88,312,427 (GRCm39) |
I1103F |
possibly damaging |
Het |
| Ttc19 |
T |
A |
11: 62,199,917 (GRCm39) |
C112* |
probably null |
Het |
| Unc5c |
T |
G |
3: 141,474,374 (GRCm39) |
|
probably null |
Het |
| Urb1 |
A |
T |
16: 90,601,425 (GRCm39) |
H115Q |
probably damaging |
Het |
| Vmn2r15 |
T |
A |
5: 109,434,488 (GRCm39) |
I739F |
probably damaging |
Het |
| Zcchc14 |
G |
T |
8: 122,335,339 (GRCm39) |
|
probably benign |
Het |
| Zfp638 |
G |
A |
6: 83,958,719 (GRCm39) |
V1166M |
possibly damaging |
Het |
|
| Other mutations in Zfp408 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01154:Zfp408
|
APN |
2 |
91,478,351 (GRCm39) |
splice site |
probably benign |
|
|
IGL02374:Zfp408
|
APN |
2 |
91,476,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03012:Zfp408
|
APN |
2 |
91,478,153 (GRCm39) |
missense |
probably benign |
|
|
Innuendo
|
UTSW |
2 |
91,476,690 (GRCm39) |
missense |
probably benign |
0.06 |
|
Slander
|
UTSW |
2 |
91,478,194 (GRCm39) |
splice site |
probably benign |
|
|
R0467:Zfp408
|
UTSW |
2 |
91,475,882 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0981:Zfp408
|
UTSW |
2 |
91,475,528 (GRCm39) |
missense |
probably benign |
0.38 |
|
R1579:Zfp408
|
UTSW |
2 |
91,476,473 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1673:Zfp408
|
UTSW |
2 |
91,476,353 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1935:Zfp408
|
UTSW |
2 |
91,480,093 (GRCm39) |
start codon destroyed |
probably null |
0.95 |
|
R2071:Zfp408
|
UTSW |
2 |
91,476,363 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2127:Zfp408
|
UTSW |
2 |
91,475,519 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2141:Zfp408
|
UTSW |
2 |
91,478,194 (GRCm39) |
splice site |
probably benign |
|
|
R3688:Zfp408
|
UTSW |
2 |
91,476,777 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4782:Zfp408
|
UTSW |
2 |
91,475,369 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4939:Zfp408
|
UTSW |
2 |
91,475,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5306:Zfp408
|
UTSW |
2 |
91,476,690 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5344:Zfp408
|
UTSW |
2 |
91,475,588 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6054:Zfp408
|
UTSW |
2 |
91,479,636 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7985:Zfp408
|
UTSW |
2 |
91,476,776 (GRCm39) |
missense |
probably benign |
|
|
R8193:Zfp408
|
UTSW |
2 |
91,475,361 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9075:Zfp408
|
UTSW |
2 |
91,476,065 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9135:Zfp408
|
UTSW |
2 |
91,475,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9514:Zfp408
|
UTSW |
2 |
91,478,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Zfp408
|
UTSW |
2 |
91,478,150 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAATGTGGGCACTGGTAG -3'
(R):5'- GAAAGCTTCAAAGGCCACATG -3'
Sequencing Primer
(F):5'- TCTCCTGTGTGTAGCCGCAAG -3'
(R):5'- TTCAAAGGCCACATGCTGGG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation