Incidental Mutation 'IGL01467:Pnisr'
ID |
88139 |
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 # |
IGL01467
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
21847583-21876475 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
C to T
at 21874650 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139324
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029911]
[ENSMUST00000098238]
[ENSMUST00000108229]
[ENSMUST00000185001]
|
AlphaFold |
A2AJT4 |
Predicted Effect |
unknown
Transcript: ENSMUST00000029911
AA Change: H798Y
|
SMART Domains |
Protein: ENSMUSP00000029911 Gene: ENSMUSG00000028248 AA Change: H798Y
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 |
unknown
Transcript: ENSMUST00000098238
AA Change: H798Y
|
SMART Domains |
Protein: ENSMUSP00000095840 Gene: ENSMUSG00000028248 AA Change: H798Y
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam1a |
A |
G |
5: 121,657,791 (GRCm39) |
C501R |
probably damaging |
Het |
Atxn1 |
C |
T |
13: 45,720,669 (GRCm39) |
V409I |
probably damaging |
Het |
Cdkn2aip |
T |
C |
8: 48,164,247 (GRCm39) |
R489G |
probably damaging |
Het |
Cgn |
A |
G |
3: 94,686,898 (GRCm39) |
S135P |
probably damaging |
Het |
Cpne3 |
C |
A |
4: 19,553,737 (GRCm39) |
C98F |
probably benign |
Het |
Cyp2c23 |
T |
C |
19: 44,003,512 (GRCm39) |
N221S |
possibly damaging |
Het |
Dnah8 |
A |
G |
17: 30,998,890 (GRCm39) |
N3525S |
probably damaging |
Het |
Efr3b |
T |
C |
12: 4,019,597 (GRCm39) |
E560G |
probably damaging |
Het |
Eif2b5 |
C |
A |
16: 20,327,714 (GRCm39) |
C154* |
probably null |
Het |
Eps8l2 |
A |
G |
7: 140,941,514 (GRCm39) |
E595G |
probably damaging |
Het |
Gm9839 |
A |
T |
1: 32,559,032 (GRCm39) |
I350N |
probably damaging |
Het |
Hdlbp |
A |
T |
1: 93,345,420 (GRCm39) |
|
probably benign |
Het |
Il18rap |
A |
T |
1: 40,587,799 (GRCm39) |
I466F |
probably damaging |
Het |
Itpr1 |
T |
A |
6: 108,465,457 (GRCm39) |
I2123N |
probably damaging |
Het |
Jakmip2 |
A |
G |
18: 43,715,352 (GRCm39) |
I58T |
probably benign |
Het |
Kdm2a |
A |
G |
19: 4,374,435 (GRCm39) |
S899P |
probably damaging |
Het |
Mmp15 |
T |
A |
8: 96,092,959 (GRCm39) |
F113I |
probably benign |
Het |
Neb |
T |
C |
2: 52,049,499 (GRCm39) |
H6448R |
possibly damaging |
Het |
Or1j12 |
C |
T |
2: 36,342,656 (GRCm39) |
R20* |
probably null |
Het |
Or2m13 |
T |
C |
16: 19,226,539 (GRCm39) |
T77A |
probably benign |
Het |
Pdgfc |
A |
G |
3: 81,116,398 (GRCm39) |
T251A |
probably damaging |
Het |
Pdgfra |
T |
C |
5: 75,346,292 (GRCm39) |
|
probably null |
Het |
Pdpk1 |
A |
G |
17: 24,307,144 (GRCm39) |
S269P |
probably damaging |
Het |
Pip4k2c |
A |
T |
10: 127,035,498 (GRCm39) |
F347L |
probably benign |
Het |
Platr26 |
T |
C |
2: 71,553,656 (GRCm39) |
|
noncoding transcript |
Het |
Psma5-ps |
A |
G |
10: 85,149,986 (GRCm39) |
|
noncoding transcript |
Het |
Rab3gap1 |
T |
A |
1: 127,858,121 (GRCm39) |
|
probably null |
Het |
Scn10a |
C |
T |
9: 119,487,478 (GRCm39) |
V619I |
probably benign |
Het |
Slc38a11 |
T |
A |
2: 65,147,200 (GRCm39) |
T426S |
probably benign |
Het |
Son |
T |
C |
16: 91,454,165 (GRCm39) |
S971P |
possibly damaging |
Het |
Stk33 |
T |
A |
7: 108,928,796 (GRCm39) |
I239L |
probably damaging |
Het |
Tiparp |
G |
T |
3: 65,460,030 (GRCm39) |
G442* |
probably null |
Het |
Tmem270 |
G |
T |
5: 134,930,815 (GRCm39) |
|
probably benign |
Het |
Vmn2r4 |
A |
T |
3: 64,313,816 (GRCm39) |
N388K |
probably damaging |
Het |
Zfp750 |
A |
T |
11: 121,403,767 (GRCm39) |
C369* |
probably null |
Het |
|
Other mutations in Pnisr |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00499:Pnisr
|
APN |
4 |
21,870,407 (GRCm39) |
critical splice donor site |
probably null |
|
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 |
2013-11-18 |