Incidental Mutation 'R6439:Zfp326'
| ID |
518931 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp326
|
| Ensembl Gene |
ENSMUSG00000029290 |
| Gene Name |
zinc finger protein 326 |
| Synonyms |
5730470H14Rik, ZAN75 |
| MMRRC Submission |
044577-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.431)
|
| Stock # |
R6439 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
106024431-106063684 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 106036584 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Arginine
at position 76
(M76R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118976
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031227]
[ENSMUST00000138615]
[ENSMUST00000150440]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031227
AA Change: M165R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000031227
Gene: ENSMUSG00000029290
AA Change: M165R
| 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 |
noncoding transcript
Transcript: ENSMUST00000133155
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135215
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135374
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136558
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138615
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150109
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000150440
AA Change: M76R
PolyPhen 2
Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000118976
Gene: ENSMUSG00000029290
AA Change: M76R
| 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 |
|
| Meta Mutation Damage Score |
0.1716 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.5%
|
| Validation Efficiency |
100% (35/35) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130401M01Rik |
T |
C |
15: 57,895,444 (GRCm39) |
D18G |
probably null |
Het |
| A530064D06Rik |
A |
G |
17: 48,473,653 (GRCm39) |
V88A |
probably damaging |
Het |
| Abhd6 |
T |
C |
14: 8,055,589 (GRCm38) |
L272P |
probably damaging |
Het |
| Adam25 |
C |
T |
8: 41,207,627 (GRCm39) |
R298C |
possibly damaging |
Het |
| Adam34l |
T |
C |
8: 44,078,988 (GRCm39) |
N412S |
probably damaging |
Het |
| Afap1l2 |
T |
C |
19: 56,916,818 (GRCm39) |
N219D |
possibly damaging |
Het |
| Brd3 |
A |
G |
2: 27,353,938 (GRCm39) |
F58S |
probably damaging |
Het |
| Ceacam3 |
G |
A |
7: 16,892,253 (GRCm39) |
R332H |
possibly damaging |
Het |
| Cfap57 |
C |
A |
4: 118,446,172 (GRCm39) |
|
probably null |
Het |
| Chd2 |
A |
G |
7: 73,130,154 (GRCm39) |
F834L |
probably damaging |
Het |
| Crocc2 |
A |
G |
1: 93,111,126 (GRCm39) |
K140E |
possibly damaging |
Het |
| Fam117b |
A |
G |
1: 60,020,731 (GRCm39) |
T534A |
probably benign |
Het |
| Fchsd1 |
C |
T |
18: 38,102,487 (GRCm39) |
V14I |
probably damaging |
Het |
| Grid2ip |
A |
T |
5: 143,359,257 (GRCm39) |
E291V |
probably damaging |
Het |
| Hbp1 |
A |
G |
12: 31,987,720 (GRCm39) |
L146S |
probably damaging |
Het |
| Hr |
A |
G |
14: 70,799,276 (GRCm39) |
D616G |
possibly damaging |
Het |
| Igfbp5 |
A |
C |
1: 72,902,300 (GRCm39) |
|
probably null |
Het |
| Jak2 |
C |
T |
19: 29,287,022 (GRCm39) |
|
probably null |
Het |
| Mpl |
T |
C |
4: 118,305,750 (GRCm39) |
D425G |
probably damaging |
Het |
| Ms4a4c |
T |
C |
19: 11,398,676 (GRCm39) |
S165P |
probably benign |
Het |
| Mycbp2 |
A |
G |
14: 103,392,911 (GRCm39) |
S3217P |
probably benign |
Het |
| Nfatc3 |
T |
A |
8: 106,810,502 (GRCm39) |
L426* |
probably null |
Het |
| Or4f47 |
T |
C |
2: 111,972,509 (GRCm39) |
V73A |
probably benign |
Het |
| Or5ak24 |
T |
C |
2: 85,261,068 (GRCm39) |
Y35C |
probably damaging |
Het |
| Or7a42 |
T |
A |
10: 78,791,818 (GRCm39) |
Y260N |
probably damaging |
Het |
| Phf1 |
G |
T |
17: 27,155,586 (GRCm39) |
V384L |
probably benign |
Het |
| Rangap1 |
T |
C |
15: 81,596,336 (GRCm39) |
T259A |
probably benign |
Het |
| Rec8 |
A |
G |
14: 55,856,076 (GRCm39) |
N6S |
possibly damaging |
Het |
| Rmdn2 |
G |
A |
17: 79,934,971 (GRCm39) |
|
probably benign |
Het |
| Scin |
T |
C |
12: 40,118,945 (GRCm39) |
Y617C |
probably damaging |
Het |
| Ttc13 |
T |
C |
8: 125,400,221 (GRCm39) |
S744G |
probably benign |
Het |
| Ttc14 |
T |
C |
3: 33,862,968 (GRCm39) |
|
probably benign |
Het |
| Uggt1 |
T |
C |
1: 36,214,032 (GRCm39) |
E219G |
possibly damaging |
Het |
| Vmn1r183 |
A |
G |
7: 23,754,704 (GRCm39) |
D169G |
possibly damaging |
Het |
| Vmn1r72 |
A |
T |
7: 11,413,064 (GRCm39) |
|
probably null |
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 |
|
PIT4508001:Zfp326
|
UTSW |
5 |
106,062,556 (GRCm39) |
missense |
probably benign |
0.02 |
|
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 |
|
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'- TCGATTTGAGAGCTCCTACCG -3'
(R):5'- TGGGAAACTTTTGCAGCCAAC -3'
Sequencing Primer
(F):5'- TTTGAGAGCTCCTACCGGAATAGC -3'
(R):5'- CTCGTTGAAAACATGGTCTTGAAAGG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation