Incidental Mutation 'R1179:Pnisr'
| ID |
100212 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pnisr
|
| Ensembl Gene |
ENSMUSG00000028248 |
| Gene Name |
PNN interacting serine/arginine-rich |
| Synonyms |
Sfrs18, 5730406M06Rik |
| MMRRC Submission |
039251-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.955)
|
| Stock # |
R1179 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
21847583-21876475 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21865937 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 309
(T309A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095840
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029911]
[ENSMUST00000098238]
[ENSMUST00000108229]
[ENSMUST00000185001]
|
| AlphaFold |
A2AJT4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029911
AA Change: T309A
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000029911
Gene: ENSMUSG00000028248
AA Change: T309A
| 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 |
possibly damaging
Transcript: ENSMUST00000098238
AA Change: T309A
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000095840
Gene: ENSMUSG00000028248
AA Change: T309A
| 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: T309A
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000103864
Gene: ENSMUSG00000028248
AA Change: T309A
| 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: ENSMUST00000150368
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150927
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185001
AA Change: T309A
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000139324
Gene: ENSMUSG00000028248
AA Change: T309A
| 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 |
- 1x: 98.8%
- 3x: 97.5%
- 10x: 93.7%
- 20x: 84.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy1 |
T |
A |
11: 7,117,054 (GRCm39) |
|
probably null |
Het |
| Aknad1 |
T |
C |
3: 108,659,783 (GRCm39) |
S266P |
possibly damaging |
Het |
| Gaa |
A |
T |
11: 119,171,954 (GRCm39) |
R686W |
probably damaging |
Het |
| Gls2 |
A |
T |
10: 128,035,103 (GRCm39) |
T79S |
probably damaging |
Het |
| Golga2 |
G |
T |
2: 32,193,707 (GRCm39) |
R511L |
possibly damaging |
Het |
| Hrnr |
T |
C |
3: 93,239,850 (GRCm39) |
S3363P |
unknown |
Het |
| Ift81 |
T |
C |
5: 122,740,773 (GRCm39) |
K187R |
probably benign |
Het |
| Kcnj1 |
T |
A |
9: 32,308,062 (GRCm39) |
I162N |
probably damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,532,280 (GRCm39) |
Q118R |
possibly damaging |
Het |
| Mc5r |
C |
G |
18: 68,471,741 (GRCm39) |
|
probably null |
Het |
| Naga |
T |
A |
15: 82,214,357 (GRCm39) |
N385Y |
probably benign |
Het |
| Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Nrip3 |
A |
G |
7: 109,362,762 (GRCm39) |
V163A |
probably damaging |
Het |
| Or6c202 |
A |
C |
10: 128,995,927 (GRCm39) |
S309A |
probably benign |
Het |
| Or8g55 |
T |
C |
9: 39,785,371 (GRCm39) |
S267P |
possibly damaging |
Het |
| Pacsin3 |
A |
G |
2: 91,094,205 (GRCm39) |
E378G |
probably damaging |
Het |
| Rad54l |
A |
T |
4: 115,968,517 (GRCm39) |
L93Q |
probably benign |
Het |
| Ralgps2 |
G |
T |
1: 156,729,369 (GRCm39) |
P50Q |
probably damaging |
Het |
| Stab2 |
A |
G |
10: 86,786,165 (GRCm39) |
V594A |
probably damaging |
Het |
| Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
| Tmem17 |
A |
T |
11: 22,468,454 (GRCm39) |
N131I |
probably damaging |
Het |
| Trrap |
G |
A |
5: 144,714,749 (GRCm39) |
R107H |
possibly damaging |
Het |
| Vmp1 |
T |
C |
11: 86,498,055 (GRCm39) |
T287A |
probably damaging |
Het |
| Zfp423 |
T |
A |
8: 88,414,700 (GRCm39) |
H1185L |
probably damaging |
Het |
| Zfp773 |
AGCTGCTGCTGCTGCTGCTGCTGCTGC |
AGCTGCTGCTGCTGCTGCTGCTGC |
7: 7,136,092 (GRCm39) |
|
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 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
|
| Posted On |
2014-01-15 |
Incidental Mutation