Incidental Mutation 'IGL00499:Pnisr'
ID |
6704 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pnisr
|
Ensembl Gene |
ENSMUSG00000028248 |
Gene Name |
PNN interacting serine/arginine-rich |
Synonyms |
Sfrs18, 5730406M06Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.955)
|
Stock # |
IGL00499
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
21847583-21876475 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 21870407 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095840
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029911]
[ENSMUST00000098238]
[ENSMUST00000108229]
[ENSMUST00000185001]
|
AlphaFold |
A2AJT4 |
Predicted Effect |
probably null
Transcript: ENSMUST00000029911
|
SMART Domains |
Protein: ENSMUSP00000029911 Gene: ENSMUSG00000028248
Domain | Start | End | E-Value | Type |
low complexity region
|
1 |
27 |
N/A |
INTRINSIC |
internal_repeat_1
|
57 |
86 |
6.59e-5 |
PROSPERO |
low complexity region
|
94 |
117 |
N/A |
INTRINSIC |
internal_repeat_1
|
121 |
149 |
6.59e-5 |
PROSPERO |
low complexity region
|
181 |
194 |
N/A |
INTRINSIC |
Pfam:PNISR
|
223 |
391 |
1.1e-55 |
PFAM |
low complexity region
|
429 |
449 |
N/A |
INTRINSIC |
low complexity region
|
494 |
586 |
N/A |
INTRINSIC |
low complexity region
|
592 |
640 |
N/A |
INTRINSIC |
low complexity region
|
664 |
703 |
N/A |
INTRINSIC |
low complexity region
|
746 |
783 |
N/A |
INTRINSIC |
low complexity region
|
789 |
814 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000098238
|
SMART Domains |
Protein: ENSMUSP00000095840 Gene: ENSMUSG00000028248
Domain | Start | End | E-Value | Type |
low complexity region
|
1 |
27 |
N/A |
INTRINSIC |
internal_repeat_1
|
57 |
86 |
7.37e-5 |
PROSPERO |
low complexity region
|
94 |
117 |
N/A |
INTRINSIC |
internal_repeat_1
|
121 |
149 |
7.37e-5 |
PROSPERO |
low complexity region
|
181 |
194 |
N/A |
INTRINSIC |
coiled coil region
|
240 |
276 |
N/A |
INTRINSIC |
low complexity region
|
289 |
298 |
N/A |
INTRINSIC |
low complexity region
|
318 |
331 |
N/A |
INTRINSIC |
low complexity region
|
334 |
347 |
N/A |
INTRINSIC |
low complexity region
|
376 |
415 |
N/A |
INTRINSIC |
low complexity region
|
429 |
449 |
N/A |
INTRINSIC |
low complexity region
|
494 |
586 |
N/A |
INTRINSIC |
low complexity region
|
592 |
640 |
N/A |
INTRINSIC |
low complexity region
|
664 |
703 |
N/A |
INTRINSIC |
low complexity region
|
746 |
783 |
N/A |
INTRINSIC |
low complexity region
|
789 |
805 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108229
|
SMART Domains |
Protein: ENSMUSP00000103864 Gene: ENSMUSG00000028248
Domain | Start | End | E-Value | Type |
low complexity region
|
1 |
27 |
N/A |
INTRINSIC |
low complexity region
|
94 |
117 |
N/A |
INTRINSIC |
low complexity region
|
181 |
194 |
N/A |
INTRINSIC |
coiled coil region
|
240 |
276 |
N/A |
INTRINSIC |
low complexity region
|
289 |
298 |
N/A |
INTRINSIC |
low complexity region
|
318 |
331 |
N/A |
INTRINSIC |
low complexity region
|
334 |
347 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133241
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148561
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000185001
|
SMART Domains |
Protein: ENSMUSP00000139324 Gene: ENSMUSG00000028248
Domain | Start | End | E-Value | Type |
low complexity region
|
1 |
27 |
N/A |
INTRINSIC |
low complexity region
|
94 |
117 |
N/A |
INTRINSIC |
low complexity region
|
181 |
194 |
N/A |
INTRINSIC |
coiled coil region
|
240 |
276 |
N/A |
INTRINSIC |
low complexity region
|
289 |
298 |
N/A |
INTRINSIC |
low complexity region
|
318 |
331 |
N/A |
INTRINSIC |
low complexity region
|
334 |
347 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930533K18Rik |
C |
A |
10: 70,711,138 (GRCm39) |
|
noncoding transcript |
Het |
Abcb9 |
T |
C |
5: 124,215,301 (GRCm39) |
D480G |
possibly damaging |
Het |
Adam26a |
A |
T |
8: 44,021,896 (GRCm39) |
N531K |
possibly damaging |
Het |
AW554918 |
A |
T |
18: 25,553,122 (GRCm39) |
K542* |
probably null |
Het |
Blk |
A |
G |
14: 63,618,169 (GRCm39) |
F246L |
probably damaging |
Het |
Camk1 |
T |
C |
6: 113,313,172 (GRCm39) |
E292G |
probably benign |
Het |
Ccdc88a |
C |
T |
11: 29,449,341 (GRCm39) |
T261I |
probably benign |
Het |
Cep290 |
A |
T |
10: 100,379,189 (GRCm39) |
Q57L |
probably damaging |
Het |
Cpsf1 |
A |
T |
15: 76,484,416 (GRCm39) |
H688Q |
probably benign |
Het |
Cryz |
T |
C |
3: 154,310,579 (GRCm39) |
V13A |
possibly damaging |
Het |
Dst |
A |
G |
1: 34,329,504 (GRCm39) |
K6858R |
probably damaging |
Het |
Dync2h1 |
A |
T |
9: 7,168,700 (GRCm39) |
V371E |
possibly damaging |
Het |
Eps8 |
C |
A |
6: 137,499,886 (GRCm39) |
E181* |
probably null |
Het |
Flt4 |
T |
C |
11: 49,526,088 (GRCm39) |
I796T |
probably damaging |
Het |
Gmps |
A |
G |
3: 63,921,788 (GRCm39) |
N597S |
probably benign |
Het |
Itgav |
T |
A |
2: 83,633,339 (GRCm39) |
M1011K |
probably damaging |
Het |
Kif16b |
A |
G |
2: 142,699,244 (GRCm39) |
M112T |
probably damaging |
Het |
Lig1 |
T |
C |
7: 13,032,756 (GRCm39) |
|
probably null |
Het |
Lrrc30 |
A |
G |
17: 67,939,034 (GRCm39) |
F182S |
probably damaging |
Het |
Oxsm |
A |
T |
14: 16,242,076 (GRCm38) |
M231K |
probably damaging |
Het |
Rsrc1 |
A |
T |
3: 66,989,933 (GRCm39) |
|
probably benign |
Het |
Setd1b |
A |
T |
5: 123,296,810 (GRCm39) |
|
probably benign |
Het |
Tbx6 |
A |
G |
7: 126,380,701 (GRCm39) |
Y8C |
probably damaging |
Het |
Tmem33 |
T |
C |
5: 67,441,538 (GRCm39) |
Y196H |
probably damaging |
Het |
Traf5 |
T |
C |
1: 191,741,589 (GRCm39) |
D96G |
possibly damaging |
Het |
Tsc22d1 |
T |
A |
14: 76,656,357 (GRCm39) |
D945E |
probably damaging |
Het |
Tubb2b |
T |
C |
13: 34,312,329 (GRCm39) |
I155V |
probably benign |
Het |
Usp13 |
T |
A |
3: 32,935,560 (GRCm39) |
Y328N |
probably damaging |
Het |
Usp17lc |
G |
A |
7: 103,067,673 (GRCm39) |
D323N |
probably damaging |
Het |
Usp17lc |
G |
A |
7: 103,067,672 (GRCm39) |
M322I |
probably damaging |
Het |
Zfp341 |
C |
T |
2: 154,476,151 (GRCm39) |
T446I |
probably damaging |
Het |
Zfp407 |
A |
G |
18: 84,579,877 (GRCm39) |
L412P |
probably damaging |
Het |
Zfp521 |
T |
A |
18: 14,072,177 (GRCm39) |
D21V |
probably benign |
Het |
Zranb1 |
A |
G |
7: 132,584,233 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Pnisr |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01467:Pnisr
|
APN |
4 |
21,874,650 (GRCm39) |
unclassified |
probably benign |
|
IGL01997:Pnisr
|
APN |
4 |
21,871,537 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02641:Pnisr
|
APN |
4 |
21,860,908 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02756:Pnisr
|
APN |
4 |
21,862,175 (GRCm39) |
missense |
probably benign |
0.07 |
R0106:Pnisr
|
UTSW |
4 |
21,874,617 (GRCm39) |
unclassified |
probably benign |
|
R0106:Pnisr
|
UTSW |
4 |
21,874,617 (GRCm39) |
unclassified |
probably benign |
|
R0620:Pnisr
|
UTSW |
4 |
21,874,092 (GRCm39) |
unclassified |
probably benign |
|
R0636:Pnisr
|
UTSW |
4 |
21,873,800 (GRCm39) |
unclassified |
probably benign |
|
R1179:Pnisr
|
UTSW |
4 |
21,865,937 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1388:Pnisr
|
UTSW |
4 |
21,862,041 (GRCm39) |
missense |
possibly damaging |
0.88 |
R1450:Pnisr
|
UTSW |
4 |
21,874,912 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1609:Pnisr
|
UTSW |
4 |
21,871,440 (GRCm39) |
nonsense |
probably null |
|
R1663:Pnisr
|
UTSW |
4 |
21,873,857 (GRCm39) |
unclassified |
probably benign |
|
R1670:Pnisr
|
UTSW |
4 |
21,865,893 (GRCm39) |
missense |
probably damaging |
1.00 |
R1721:Pnisr
|
UTSW |
4 |
21,874,086 (GRCm39) |
unclassified |
probably benign |
|
R1792:Pnisr
|
UTSW |
4 |
21,860,968 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1867:Pnisr
|
UTSW |
4 |
21,874,086 (GRCm39) |
unclassified |
probably benign |
|
R1868:Pnisr
|
UTSW |
4 |
21,874,086 (GRCm39) |
unclassified |
probably benign |
|
R1909:Pnisr
|
UTSW |
4 |
21,869,517 (GRCm39) |
missense |
possibly damaging |
0.88 |
R1931:Pnisr
|
UTSW |
4 |
21,873,612 (GRCm39) |
missense |
probably benign |
0.01 |
R4843:Pnisr
|
UTSW |
4 |
21,857,400 (GRCm39) |
intron |
probably benign |
|
R4917:Pnisr
|
UTSW |
4 |
21,859,330 (GRCm39) |
intron |
probably benign |
|
R5076:Pnisr
|
UTSW |
4 |
21,874,990 (GRCm39) |
unclassified |
probably benign |
|
R5164:Pnisr
|
UTSW |
4 |
21,859,237 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5227:Pnisr
|
UTSW |
4 |
21,874,587 (GRCm39) |
unclassified |
probably benign |
|
R6722:Pnisr
|
UTSW |
4 |
21,859,165 (GRCm39) |
missense |
probably damaging |
0.99 |
R7878:Pnisr
|
UTSW |
4 |
21,874,370 (GRCm39) |
missense |
unknown |
|
R8512:Pnisr
|
UTSW |
4 |
21,870,372 (GRCm39) |
nonsense |
probably null |
|
R9049:Pnisr
|
UTSW |
4 |
21,854,391 (GRCm39) |
missense |
unknown |
|
R9680:Pnisr
|
UTSW |
4 |
21,873,586 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1088:Pnisr
|
UTSW |
4 |
21,873,684 (GRCm39) |
missense |
probably benign |
|
Z1176:Pnisr
|
UTSW |
4 |
21,873,684 (GRCm39) |
missense |
probably benign |
|
Z1177:Pnisr
|
UTSW |
4 |
21,873,684 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2012-04-20 |