Incidental Mutation 'IGL02641:Pnisr'
ID301726
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pnisr
Ensembl Gene ENSMUSG00000028248
Gene NamePNN interacting serine/arginine-rich
SynonymsSfrs18, 5730406M06Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.950) question?
Stock #IGL02641
Quality Score
Status
Chromosome4
Chromosomal Location21847583-21876475 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 21860908 bp
ZygosityHeterozygous
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]
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000152666
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156136
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

DomainStartEndE-ValueType
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3100002H09Rik A T 4: 124,610,717 M14K unknown Het
Arhgap24 T C 5: 102,892,520 V441A probably damaging Het
Cdv3 G T 9: 103,364,024 Q115K probably damaging Het
Clstn1 G T 4: 149,629,511 G207C probably null Het
Col28a1 A T 6: 8,014,794 Y870* probably null Het
Creb3 A C 4: 43,563,311 H136P probably benign Het
Dcaf17 G A 2: 71,082,031 C320Y probably damaging Het
Fbl T C 7: 28,175,046 S66P probably damaging Het
Fgfrl1 C A 5: 108,705,865 S279R probably damaging Het
Gdpgp1 C T 7: 80,239,048 R276* probably null Het
Hcfc2 A G 10: 82,702,549 Y140C probably damaging Het
Ighg3 A G 12: 113,360,198 I190T unknown Het
Itgav T C 2: 83,768,345 probably benign Het
Lce1c C A 3: 92,680,538 probably benign Het
Ldoc1 G A X: 61,709,813 C35Y probably damaging Het
Lrp10 T A 14: 54,468,611 C419* probably null Het
Micall2 T C 5: 139,719,339 D80G probably damaging Het
Olfr1444 T A 19: 12,862,202 C142* probably null Het
Pde3b C T 7: 114,530,817 T869I probably damaging Het
Pip5k1c C A 10: 81,317,321 probably null Het
Pkhd1 G A 1: 20,558,752 T657I possibly damaging Het
Rpl21-ps4 G A 14: 11,227,661 noncoding transcript Het
Rtn4rl1 A C 11: 75,265,824 T361P probably damaging Het
Spaca9 C A 2: 28,695,951 E34* probably null Het
Trip10 T A 17: 57,262,411 D478E probably benign Het
Tsc22d2 A G 3: 58,416,155 D156G probably damaging Het
Ufc1 T C 1: 171,290,191 D50G probably damaging Het
Vmn1r202 T G 13: 22,502,104 I48L probably benign Het
Vmn2r111 A T 17: 22,573,224 V17E possibly damaging Het
Vps13a T A 19: 16,698,821 M1263L probably benign Het
Other mutations in Pnisr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00499:Pnisr APN 4 21870407 critical splice donor site probably null
IGL01467:Pnisr APN 4 21874650 unclassified probably benign
IGL01997:Pnisr APN 4 21871537 missense possibly damaging 0.95
IGL02756:Pnisr APN 4 21862175 missense probably benign 0.07
R0106:Pnisr UTSW 4 21874617 unclassified probably benign
R0106:Pnisr UTSW 4 21874617 unclassified probably benign
R0620:Pnisr UTSW 4 21874092 unclassified probably benign
R0636:Pnisr UTSW 4 21873800 unclassified probably benign
R1179:Pnisr UTSW 4 21865937 missense possibly damaging 0.95
R1388:Pnisr UTSW 4 21862041 missense possibly damaging 0.88
R1450:Pnisr UTSW 4 21874912 critical splice acceptor site probably null
R1609:Pnisr UTSW 4 21871440 nonsense probably null
R1663:Pnisr UTSW 4 21873857 unclassified probably benign
R1670:Pnisr UTSW 4 21865893 missense probably damaging 1.00
R1721:Pnisr UTSW 4 21874086 unclassified probably benign
R1792:Pnisr UTSW 4 21860968 missense possibly damaging 0.94
R1867:Pnisr UTSW 4 21874086 unclassified probably benign
R1868:Pnisr UTSW 4 21874086 unclassified probably benign
R1909:Pnisr UTSW 4 21869517 missense possibly damaging 0.88
R1931:Pnisr UTSW 4 21873612 missense probably benign 0.01
R4843:Pnisr UTSW 4 21857400 intron probably benign
R4917:Pnisr UTSW 4 21859330 intron probably benign
R5076:Pnisr UTSW 4 21874990 unclassified probably benign
R5164:Pnisr UTSW 4 21859237 missense possibly damaging 0.88
R5227:Pnisr UTSW 4 21874587 unclassified probably benign
R6722:Pnisr UTSW 4 21859165 missense probably damaging 0.99
R7878:Pnisr UTSW 4 21874370 missense unknown
R7961:Pnisr UTSW 4 21874370 missense unknown
Z1088:Pnisr UTSW 4 21873684 missense probably benign
Z1176:Pnisr UTSW 4 21873684 missense probably benign
Z1177:Pnisr UTSW 4 21873684 missense probably benign
Posted On2015-04-16