Incidental Mutation 'IGL02641:Pnisr'
| ID |
301726 |
| 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 # |
IGL02641
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
21847583-21876475 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21860908 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 197
(N197S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095840
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029911]
[ENSMUST00000098238]
[ENSMUST00000108229]
[ENSMUST00000185001]
|
| AlphaFold |
A2AJT4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029911
AA Change: N197S
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000029911
Gene: ENSMUSG00000028248
AA Change: N197S
| 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 benign
Transcript: ENSMUST00000098238
AA Change: N197S
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000095840
Gene: ENSMUSG00000028248
AA Change: N197S
| 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
AA Change: N197S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000103864
Gene: ENSMUSG00000028248
AA Change: N197S
| 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: ENSMUST00000138419
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138681
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150368
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150927
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185001
AA Change: N197S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000139324
Gene: ENSMUSG00000028248
AA Change: N197S
| 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: ENSMUST00000152666
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156136
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3100002H09Rik |
A |
T |
4: 124,504,510 (GRCm39) |
M14K |
unknown |
Het |
| Arhgap24 |
T |
C |
5: 103,040,386 (GRCm39) |
V441A |
probably damaging |
Het |
| Cdv3 |
G |
T |
9: 103,241,223 (GRCm39) |
Q115K |
probably damaging |
Het |
| Clstn1 |
G |
T |
4: 149,713,968 (GRCm39) |
G207C |
probably null |
Het |
| Col28a1 |
A |
T |
6: 8,014,794 (GRCm39) |
Y870* |
probably null |
Het |
| Creb3 |
A |
C |
4: 43,563,311 (GRCm39) |
H136P |
probably benign |
Het |
| Dcaf17 |
G |
A |
2: 70,912,375 (GRCm39) |
C320Y |
probably damaging |
Het |
| Fbl |
T |
C |
7: 27,874,471 (GRCm39) |
S66P |
probably damaging |
Het |
| Fgfrl1 |
C |
A |
5: 108,853,731 (GRCm39) |
S279R |
probably damaging |
Het |
| Gdpgp1 |
C |
T |
7: 79,888,796 (GRCm39) |
R276* |
probably null |
Het |
| Hcfc2 |
A |
G |
10: 82,538,383 (GRCm39) |
Y140C |
probably damaging |
Het |
| Ighg3 |
A |
G |
12: 113,323,818 (GRCm39) |
I190T |
unknown |
Het |
| Itgav |
T |
C |
2: 83,598,689 (GRCm39) |
|
probably benign |
Het |
| Lce1c |
C |
A |
3: 92,587,845 (GRCm39) |
|
probably benign |
Het |
| Ldoc1 |
G |
A |
X: 60,753,419 (GRCm39) |
C35Y |
probably damaging |
Het |
| Lrp10 |
T |
A |
14: 54,706,068 (GRCm39) |
C419* |
probably null |
Het |
| Micall2 |
T |
C |
5: 139,705,094 (GRCm39) |
D80G |
probably damaging |
Het |
| Or5b21 |
T |
A |
19: 12,839,566 (GRCm39) |
C142* |
probably null |
Het |
| Pde3b |
C |
T |
7: 114,130,052 (GRCm39) |
T869I |
probably damaging |
Het |
| Pip5k1c |
C |
A |
10: 81,153,155 (GRCm39) |
|
probably null |
Het |
| Pkhd1 |
G |
A |
1: 20,628,976 (GRCm39) |
T657I |
possibly damaging |
Het |
| Rpl21-ps4 |
G |
A |
14: 11,227,661 (GRCm38) |
|
noncoding transcript |
Het |
| Rtn4rl1 |
A |
C |
11: 75,156,650 (GRCm39) |
T361P |
probably damaging |
Het |
| Spaca9 |
C |
A |
2: 28,585,963 (GRCm39) |
E34* |
probably null |
Het |
| Trip10 |
T |
A |
17: 57,569,411 (GRCm39) |
D478E |
probably benign |
Het |
| Tsc22d2 |
A |
G |
3: 58,323,576 (GRCm39) |
D156G |
probably damaging |
Het |
| Ufc1 |
T |
C |
1: 171,117,764 (GRCm39) |
D50G |
probably damaging |
Het |
| Vmn1r202 |
T |
G |
13: 22,686,274 (GRCm39) |
I48L |
probably benign |
Het |
| Vmn2r111 |
A |
T |
17: 22,792,205 (GRCm39) |
V17E |
possibly damaging |
Het |
| Vps13a |
T |
A |
19: 16,676,185 (GRCm39) |
M1263L |
probably benign |
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 |
|
|
IGL01467:Pnisr
|
APN |
4 |
21,874,650 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01997:Pnisr
|
APN |
4 |
21,871,537 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
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 |
2015-04-16 |
Incidental Mutation