Incidental Mutation 'R1609:Pnisr'
| ID |
176665 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pnisr
|
| Ensembl Gene |
ENSMUSG00000028248 |
| Gene Name |
PNN interacting serine/arginine-rich |
| Synonyms |
Sfrs18, 5730406M06Rik |
| MMRRC Submission |
039646-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.955)
|
| Stock # |
R1609 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
21847583-21876475 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 21871440 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Stop codon
at position 387
(G387*)
|
| 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
AA Change: G387*
|
| SMART Domains |
Protein: ENSMUSP00000029911
Gene: ENSMUSG00000028248
AA Change: G387*
| 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
AA Change: G387*
|
| SMART Domains |
Protein: ENSMUSP00000095840
Gene: ENSMUSG00000028248
AA Change: G387*
| 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.1%
- 20x: 88.1%
|
| Validation Efficiency |
96% (49/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot2 |
C |
T |
12: 84,039,630 (GRCm39) |
R380C |
possibly damaging |
Het |
| Allc |
A |
T |
12: 28,603,993 (GRCm39) |
D363E |
probably damaging |
Het |
| Anxa2 |
TCCC |
TCC |
9: 69,397,036 (GRCm39) |
|
probably null |
Het |
| App |
C |
A |
16: 84,876,837 (GRCm39) |
V185L |
probably damaging |
Het |
| Atp5if1 |
T |
C |
4: 132,258,078 (GRCm39) |
D47G |
probably benign |
Het |
| Auh |
G |
A |
13: 52,989,532 (GRCm39) |
P308L |
probably benign |
Het |
| Cbr4 |
T |
A |
8: 61,956,192 (GRCm39) |
Y220N |
probably damaging |
Het |
| Ccdc6 |
C |
A |
10: 70,002,877 (GRCm39) |
Q203K |
probably damaging |
Het |
| Cntnap2 |
T |
C |
6: 45,992,264 (GRCm39) |
V397A |
probably benign |
Het |
| Dmxl2 |
A |
G |
9: 54,316,547 (GRCm39) |
I1613T |
possibly damaging |
Het |
| Dnah14 |
T |
C |
1: 181,577,742 (GRCm39) |
S3020P |
probably damaging |
Het |
| Dnah7b |
T |
C |
1: 46,392,126 (GRCm39) |
L3829P |
probably damaging |
Het |
| Fbxw25 |
C |
T |
9: 109,492,578 (GRCm39) |
C53Y |
probably benign |
Het |
| Fndc1 |
G |
T |
17: 7,991,598 (GRCm39) |
H699Q |
unknown |
Het |
| Gnaq |
G |
A |
19: 16,360,618 (GRCm39) |
V314M |
possibly damaging |
Het |
| Gpr158 |
A |
G |
2: 21,788,104 (GRCm39) |
T582A |
possibly damaging |
Het |
| Mapk1 |
T |
C |
16: 16,856,170 (GRCm39) |
|
probably benign |
Het |
| Med1 |
T |
A |
11: 98,051,996 (GRCm39) |
H456L |
possibly damaging |
Het |
| Myo6 |
G |
A |
9: 80,195,499 (GRCm39) |
|
probably null |
Het |
| Nipbl |
A |
G |
15: 8,396,148 (GRCm39) |
Y142H |
probably damaging |
Het |
| Or4c113 |
A |
T |
2: 88,885,688 (GRCm39) |
F27L |
probably benign |
Het |
| Or8k24 |
A |
G |
2: 86,215,838 (GRCm39) |
I308T |
probably benign |
Het |
| Or8k33 |
A |
C |
2: 86,383,949 (GRCm39) |
V173G |
probably damaging |
Het |
| Pgbd5 |
T |
C |
8: 125,160,750 (GRCm39) |
D39G |
probably benign |
Het |
| Pnpla6 |
T |
C |
8: 3,567,135 (GRCm39) |
L61P |
probably damaging |
Het |
| Prkra |
A |
T |
2: 76,463,936 (GRCm39) |
I242N |
probably benign |
Het |
| Rp1 |
A |
G |
1: 4,419,424 (GRCm39) |
S563P |
probably damaging |
Het |
| Rtp3 |
A |
G |
9: 110,815,085 (GRCm39) |
|
probably benign |
Het |
| Sema3d |
A |
G |
5: 12,591,023 (GRCm39) |
T301A |
probably damaging |
Het |
| Setmar |
A |
G |
6: 108,053,076 (GRCm39) |
D190G |
probably benign |
Het |
| Sf3b2 |
A |
G |
19: 5,345,061 (GRCm39) |
|
probably benign |
Het |
| Taf4b |
A |
G |
18: 14,968,938 (GRCm39) |
K692E |
probably damaging |
Het |
| Tktl2 |
A |
G |
8: 66,965,504 (GRCm39) |
E354G |
probably benign |
Het |
| Tspan4 |
A |
G |
7: 141,071,557 (GRCm39) |
T135A |
probably damaging |
Het |
| Vmn1r22 |
G |
T |
6: 57,877,733 (GRCm39) |
Y81* |
probably null |
Het |
| Vmn2r31 |
T |
C |
7: 7,387,888 (GRCm39) |
E561G |
probably damaging |
Het |
| Xrn1 |
A |
T |
9: 95,856,946 (GRCm39) |
K389N |
probably benign |
Het |
| Zfp277 |
A |
T |
12: 40,378,719 (GRCm39) |
N379K |
probably damaging |
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 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGGTGGGGAGTAACTCGTACCA -3'
(R):5'- TGCCACAGAAATCTCAGATCACCTTCTA -3'
Sequencing Primer
(F):5'- TTACTATCACCGTTGTCTGAGG -3'
(R):5'- CTCAGATCACCTTCTATCTGTTTATC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation