Incidental Mutation 'IGL01354:Zrsr2-ps1'
| ID |
75480 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zrsr2-ps1
|
| Ensembl Gene |
ENSMUSG00000044068 |
| Gene Name |
zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2, pseudogene 1 |
| Synonyms |
D11Ncvs75, SP2, Irlgs2, U2afbp-rs, U2af1-rs1, 35kDa, Zrsr1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01354
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
22922019-22926500 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 22924190 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 321
(H321Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062025
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049506]
[ENSMUST00000057843]
[ENSMUST00000071068]
[ENSMUST00000159081]
[ENSMUST00000160826]
|
| AlphaFold |
Q64707 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049506
AA Change: H321Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000062025
Gene: ENSMUSG00000044068
AA Change: H321Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
39 |
N/A |
INTRINSIC |
|
coiled coil region
|
52 |
144 |
N/A |
INTRINSIC |
|
ZnF_C3H1
|
158 |
184 |
1.69e-3 |
SMART |
|
RRM
|
190 |
291 |
1.44e-2 |
SMART |
|
ZnF_C3H1
|
297 |
323 |
1.2e-3 |
SMART |
|
low complexity region
|
364 |
389 |
N/A |
INTRINSIC |
|
low complexity region
|
403 |
418 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057843
|
| SMART Domains |
Protein: ENSMUSP00000053606
Gene: ENSMUSG00000051355
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
22 |
N/A |
INTRINSIC |
|
Pfam:HCaRG
|
44 |
238 |
1.2e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071068
|
| SMART Domains |
Protein: ENSMUSP00000065079
Gene: ENSMUSG00000051355
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
17 |
N/A |
INTRINSIC |
|
Pfam:HCaRG
|
57 |
89 |
2.2e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093270
|
| SMART Domains |
Protein: ENSMUSP00000090958
Gene: ENSMUSG00000051355
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HCaRG
|
3 |
137 |
1.7e-27 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159081
|
| SMART Domains |
Protein: ENSMUSP00000124719
Gene: ENSMUSG00000051355
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HCaRG
|
12 |
184 |
1.3e-53 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160826
|
| SMART Domains |
Protein: ENSMUSP00000125609
Gene: ENSMUSG00000098650
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HCaRG
|
1 |
99 |
1.3e-36 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162924
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230879
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229075
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Heterozygotes for a targeted null mutation of this imprinted gene are viable and fertile regardless of the parental origin of the mutated allele. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1l2 |
A |
G |
10: 83,363,240 (GRCm39) |
L41P |
probably damaging |
Het |
| Baz2b |
T |
C |
2: 59,799,233 (GRCm39) |
Q297R |
probably benign |
Het |
| Chl1 |
A |
T |
6: 103,642,814 (GRCm39) |
Q184L |
probably benign |
Het |
| Cyp2a5 |
A |
G |
7: 26,536,528 (GRCm39) |
D169G |
possibly damaging |
Het |
| Cyp2d34 |
G |
A |
15: 82,501,823 (GRCm39) |
T229M |
probably benign |
Het |
| Fgd5 |
C |
T |
6: 92,038,824 (GRCm39) |
R995* |
probably null |
Het |
| Gaa |
T |
C |
11: 119,161,394 (GRCm39) |
S146P |
probably benign |
Het |
| Gm11437 |
T |
A |
11: 84,058,144 (GRCm39) |
|
probably benign |
Het |
| Inpp5a |
T |
C |
7: 139,118,150 (GRCm39) |
F235L |
probably damaging |
Het |
| Lpp |
T |
A |
16: 24,580,816 (GRCm39) |
Y177* |
probably null |
Het |
| Malt1 |
A |
G |
18: 65,608,262 (GRCm39) |
Y654C |
probably damaging |
Het |
| Or2y10 |
T |
C |
11: 49,455,024 (GRCm39) |
I92T |
probably damaging |
Het |
| Or4k52 |
A |
C |
2: 111,611,246 (GRCm39) |
N194H |
possibly damaging |
Het |
| Or8b4 |
G |
A |
9: 37,830,840 (GRCm39) |
V301I |
possibly damaging |
Het |
| Otog |
A |
G |
7: 45,939,150 (GRCm39) |
N2060S |
probably damaging |
Het |
| Phc1 |
G |
A |
6: 122,311,042 (GRCm39) |
T98I |
probably damaging |
Het |
| Pik3cb |
A |
G |
9: 98,946,221 (GRCm39) |
I535T |
possibly damaging |
Het |
| Plxna2 |
A |
G |
1: 194,444,743 (GRCm39) |
I712V |
probably benign |
Het |
| Psmc2 |
A |
G |
5: 22,000,834 (GRCm39) |
E103G |
possibly damaging |
Het |
| Ptprb |
A |
G |
10: 116,179,796 (GRCm39) |
I1405V |
probably benign |
Het |
| Ralgapa1 |
T |
C |
12: 55,824,101 (GRCm39) |
N260D |
possibly damaging |
Het |
| Reln |
G |
A |
5: 22,124,173 (GRCm39) |
Q2778* |
probably null |
Het |
| Slco1a8 |
T |
C |
6: 141,936,134 (GRCm39) |
N317S |
probably benign |
Het |
| Sptlc1 |
T |
A |
13: 53,487,987 (GRCm39) |
Q452L |
probably benign |
Het |
| Traf4 |
C |
A |
11: 78,056,226 (GRCm39) |
R14L |
possibly damaging |
Het |
| Ubap2 |
T |
C |
4: 41,207,005 (GRCm39) |
E191G |
probably damaging |
Het |
| Vstm4 |
A |
T |
14: 32,641,202 (GRCm39) |
T262S |
probably benign |
Het |
|
| Other mutations in Zrsr2-ps1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1474:Zrsr2-ps1
|
UTSW |
11 |
22,924,404 (GRCm39) |
missense |
probably benign |
|
|
R1653:Zrsr2-ps1
|
UTSW |
11 |
22,924,158 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1766:Zrsr2-ps1
|
UTSW |
11 |
22,923,637 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4884:Zrsr2-ps1
|
UTSW |
11 |
22,923,805 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7223:Zrsr2-ps1
|
UTSW |
11 |
22,923,388 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7417:Zrsr2-ps1
|
UTSW |
11 |
22,924,662 (GRCm39) |
splice site |
probably null |
|
|
R7431:Zrsr2-ps1
|
UTSW |
11 |
22,923,580 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7736:Zrsr2-ps1
|
UTSW |
11 |
22,923,510 (GRCm39) |
nonsense |
probably null |
|
|
R7751:Zrsr2-ps1
|
UTSW |
11 |
22,923,595 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R8762:Zrsr2-ps1
|
UTSW |
11 |
22,923,694 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9621:Zrsr2-ps1
|
UTSW |
11 |
22,923,418 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
| Posted On |
2013-10-07 |
Incidental Mutation