Incidental Mutation 'PIT4508001:Zfp326'
| ID |
556222 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp326
|
| Ensembl Gene |
ENSMUSG00000029290 |
| Gene Name |
zinc finger protein 326 |
| Synonyms |
5730470H14Rik, ZAN75 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.496)
|
| Stock # |
PIT4508001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
106024431-106063684 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 106062556 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 475
(Q475L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031227
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031227]
[ENSMUST00000138615]
[ENSMUST00000150440]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031227
AA Change: Q475L
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000031227
Gene: ENSMUSG00000029290
AA Change: Q475L
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
19 |
39 |
1.09e-7 |
PROSPERO |
|
internal_repeat_1
|
31 |
58 |
1.09e-7 |
PROSPERO |
|
low complexity region
|
63 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
154 |
162 |
N/A |
INTRINSIC |
|
low complexity region
|
194 |
205 |
N/A |
INTRINSIC |
|
coiled coil region
|
277 |
304 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
312 |
336 |
4.12e0 |
SMART |
|
ZnF_C2H2
|
405 |
430 |
1.78e2 |
SMART |
|
low complexity region
|
483 |
561 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138615
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000150440
AA Change: Q386L
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000118976
Gene: ENSMUSG00000029290
AA Change: Q386L
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
19 |
39 |
2.38e-7 |
PROSPERO |
|
internal_repeat_1
|
31 |
58 |
2.38e-7 |
PROSPERO |
|
low complexity region
|
63 |
73 |
N/A |
INTRINSIC |
|
low complexity region
|
105 |
116 |
N/A |
INTRINSIC |
|
coiled coil region
|
188 |
215 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
223 |
247 |
4.12e0 |
SMART |
|
ZnF_C2H2
|
316 |
341 |
1.78e2 |
SMART |
|
low complexity region
|
389 |
415 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 93.4%
- 3x: 90.7%
- 10x: 84.6%
- 20x: 71.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
T |
C |
16: 20,176,128 (GRCm39) |
T1228A |
probably damaging |
Het |
| Actg2 |
A |
T |
6: 83,489,989 (GRCm39) |
I370N |
possibly damaging |
Het |
| Ankrd36 |
A |
G |
11: 5,557,137 (GRCm39) |
T330A |
possibly damaging |
Het |
| Atrip |
C |
T |
9: 108,903,057 (GRCm39) |
A6T |
possibly damaging |
Het |
| Bms1 |
G |
A |
6: 118,360,767 (GRCm39) |
R1234C |
probably benign |
Het |
| Cacnb2 |
A |
T |
2: 14,989,230 (GRCm39) |
T487S |
probably benign |
Het |
| Cert1 |
T |
C |
13: 96,767,284 (GRCm39) |
F478S |
probably damaging |
Het |
| Esco2 |
A |
T |
14: 66,068,914 (GRCm39) |
V132E |
probably damaging |
Het |
| Gjb5 |
A |
T |
4: 127,250,033 (GRCm39) |
L37Q |
probably damaging |
Het |
| Gm8020 |
T |
A |
14: 42,324,234 (GRCm39) |
Y24F |
|
Het |
| H2bc8 |
CTCGACCATCACGTC |
CTC |
13: 23,755,867 (GRCm39) |
|
probably benign |
Het |
| H2-Q6 |
T |
C |
17: 35,644,796 (GRCm39) |
L195P |
probably damaging |
Het |
| Hc |
T |
C |
2: 34,874,816 (GRCm39) |
T1602A |
probably damaging |
Het |
| Hcrtr2 |
A |
T |
9: 76,153,662 (GRCm39) |
Y243* |
probably null |
Het |
| Itga3 |
T |
C |
11: 94,946,719 (GRCm39) |
H730R |
probably benign |
Het |
| Kif1a |
A |
T |
1: 92,974,451 (GRCm39) |
L866Q |
probably damaging |
Het |
| Krt81 |
A |
T |
15: 101,360,606 (GRCm39) |
L127Q |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,719,223 (GRCm39) |
I2262T |
probably damaging |
Het |
| Mxd3 |
A |
T |
13: 55,473,707 (GRCm39) |
D170E |
probably benign |
Het |
| Myh2 |
A |
G |
11: 67,076,331 (GRCm39) |
M811V |
probably benign |
Het |
| Naa16 |
A |
T |
14: 79,606,527 (GRCm39) |
D335E |
probably benign |
Het |
| Nkd1 |
A |
G |
8: 89,249,028 (GRCm39) |
T58A |
probably benign |
Het |
| Ogfrl1 |
T |
A |
1: 23,409,351 (GRCm39) |
R292* |
probably null |
Het |
| Or52e2 |
T |
A |
7: 102,804,520 (GRCm39) |
M145L |
probably benign |
Het |
| Or5w13 |
G |
A |
2: 87,524,059 (GRCm39) |
H56Y |
probably damaging |
Het |
| Pom121l12 |
A |
G |
11: 14,549,689 (GRCm39) |
R132G |
possibly damaging |
Het |
| Prss46 |
A |
G |
9: 110,680,484 (GRCm39) |
K210E |
probably damaging |
Het |
| Scn8a |
T |
C |
15: 100,927,573 (GRCm39) |
Y1351H |
probably damaging |
Het |
| Shisa9 |
G |
A |
16: 12,085,344 (GRCm39) |
V318I |
probably benign |
Het |
| Slc41a2 |
T |
G |
10: 83,090,744 (GRCm39) |
H480P |
probably damaging |
Het |
| Slc45a1 |
C |
A |
4: 150,722,892 (GRCm39) |
A331S |
probably benign |
Het |
| Smg1 |
A |
T |
7: 117,784,764 (GRCm39) |
F885I |
unknown |
Het |
| Speer4f1 |
T |
C |
5: 17,685,412 (GRCm39) |
S236P |
unknown |
Het |
| Zzef1 |
T |
G |
11: 72,786,002 (GRCm39) |
V2058G |
probably benign |
Het |
|
| Other mutations in Zfp326 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00158:Zfp326
|
APN |
5 |
106,054,911 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL00432:Zfp326
|
APN |
5 |
106,044,399 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01551:Zfp326
|
APN |
5 |
106,036,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03197:Zfp326
|
APN |
5 |
106,039,059 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0326:Zfp326
|
UTSW |
5 |
106,058,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0411:Zfp326
|
UTSW |
5 |
106,026,641 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0634:Zfp326
|
UTSW |
5 |
106,034,069 (GRCm39) |
nonsense |
probably null |
|
|
R0850:Zfp326
|
UTSW |
5 |
106,026,663 (GRCm39) |
splice site |
probably null |
|
|
R1833:Zfp326
|
UTSW |
5 |
106,039,035 (GRCm39) |
nonsense |
probably null |
|
|
R2108:Zfp326
|
UTSW |
5 |
106,062,646 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R2857:Zfp326
|
UTSW |
5 |
106,036,395 (GRCm39) |
missense |
probably benign |
0.11 |
|
R3702:Zfp326
|
UTSW |
5 |
106,036,709 (GRCm39) |
splice site |
probably null |
|
|
R4690:Zfp326
|
UTSW |
5 |
106,054,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5614:Zfp326
|
UTSW |
5 |
106,036,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6212:Zfp326
|
UTSW |
5 |
106,058,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6262:Zfp326
|
UTSW |
5 |
106,036,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6274:Zfp326
|
UTSW |
5 |
106,053,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6439:Zfp326
|
UTSW |
5 |
106,036,584 (GRCm39) |
missense |
probably null |
0.69 |
|
R6963:Zfp326
|
UTSW |
5 |
106,059,359 (GRCm39) |
nonsense |
probably null |
|
|
R8073:Zfp326
|
UTSW |
5 |
106,062,682 (GRCm39) |
missense |
unknown |
|
|
R8496:Zfp326
|
UTSW |
5 |
106,036,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9781:Zfp326
|
UTSW |
5 |
106,062,825 (GRCm39) |
missense |
unknown |
|
|
Z1088:Zfp326
|
UTSW |
5 |
106,036,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGATCATCTGCATCAGCTCTTCTG -3'
(R):5'- AAGTGTGGCGCCTACATCTG -3'
Sequencing Primer
(F):5'- CAGCTCTTCTGCTTGTATCAAAAAC -3'
(R):5'- TGTGCTCGCACTGCTCAGTAG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation