Incidental Mutation 'IGL02562:Snrpa'
ID 298700
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Snrpa
Ensembl Gene ENSMUSG00000061479
Gene Name small nuclear ribonucleoprotein polypeptide A
Synonyms Rnu1a1, C430021M15Rik, U1A, U1 snRNP
Accession Numbers
Essential gene? Probably essential (E-score: 0.960) question?
Stock # IGL02562
Quality Score
Status
Chromosome 7
Chromosomal Location 26886431-26895696 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 26891123 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Methionine at position 116 (K116M)
Ref Sequence ENSEMBL: ENSMUSP00000131897 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080356] [ENSMUST00000108379] [ENSMUST00000122202] [ENSMUST00000126211] [ENSMUST00000141378] [ENSMUST00000163311] [ENSMUST00000179391]
AlphaFold Q62189
Predicted Effect probably damaging
Transcript: ENSMUST00000080356
AA Change: K116M

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000079228
Gene: ENSMUSG00000061479
AA Change: K116M

DomainStartEndE-ValueType
RRM 17 91 2.3e-14 SMART
low complexity region 109 120 N/A INTRINSIC
low complexity region 125 156 N/A INTRINSIC
low complexity region 162 206 N/A INTRINSIC
RRM 214 283 6.31e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108379
SMART Domains Protein: ENSMUSP00000104016
Gene: ENSMUSG00000078786

DomainStartEndE-ValueType
low complexity region 26 42 N/A INTRINSIC
low complexity region 50 80 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000122202
AA Change: K116M

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113678
Gene: ENSMUSG00000061479
AA Change: K116M

DomainStartEndE-ValueType
RRM 17 91 2.3e-14 SMART
low complexity region 109 120 N/A INTRINSIC
low complexity region 125 156 N/A INTRINSIC
low complexity region 162 206 N/A INTRINSIC
RRM 214 283 6.31e-12 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000126211
AA Change: K116M

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000115335
Gene: ENSMUSG00000061479
AA Change: K116M

DomainStartEndE-ValueType
RRM 17 91 2.3e-14 SMART
low complexity region 109 120 N/A INTRINSIC
low complexity region 125 156 N/A INTRINSIC
low complexity region 162 206 N/A INTRINSIC
Pfam:RRM_1 215 247 3.8e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000141378
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148491
Predicted Effect probably damaging
Transcript: ENSMUST00000163311
AA Change: K116M

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000131897
Gene: ENSMUSG00000061479
AA Change: K116M

DomainStartEndE-ValueType
RRM 17 91 2.3e-14 SMART
low complexity region 109 120 N/A INTRINSIC
low complexity region 125 156 N/A INTRINSIC
low complexity region 162 206 N/A INTRINSIC
RRM 214 283 6.31e-12 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206439
Predicted Effect probably benign
Transcript: ENSMUST00000179391
SMART Domains Protein: ENSMUSP00000137189
Gene: ENSMUSG00000078786

DomainStartEndE-ValueType
low complexity region 26 42 N/A INTRINSIC
low complexity region 50 80 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl4 T C 3: 151,144,949 (GRCm39) C33R probably damaging Het
Aifm3 A G 16: 17,324,126 (GRCm39) N562S probably benign Het
Akap14 G A X: 36,427,441 (GRCm39) T98M possibly damaging Het
Atp7b T G 8: 22,518,101 (GRCm39) T234P probably benign Het
Atp8b1 T A 18: 64,715,057 (GRCm39) Q65L probably benign Het
Bclaf3 T C X: 158,349,434 (GRCm39) S600P probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Col4a5 A G X: 140,439,671 (GRCm39) probably benign Het
Gigyf2 A G 1: 87,335,097 (GRCm39) D120G probably benign Het
Gm4953 A T 1: 158,996,077 (GRCm39) noncoding transcript Het
Hip1r G T 5: 124,129,586 (GRCm39) probably benign Het
Itga2 A G 13: 114,973,106 (GRCm39) probably benign Het
Itga3 T C 11: 94,959,619 (GRCm39) T85A probably benign Het
Loxl1 A G 9: 58,196,199 (GRCm39) S607P probably damaging Het
Marchf2 G A 17: 33,915,048 (GRCm39) T182I probably damaging Het
Mbd1 T C 18: 74,409,993 (GRCm39) S386P probably benign Het
Meis2 C A 2: 115,879,627 (GRCm39) G231V probably damaging Het
Myo1h A G 5: 114,496,053 (GRCm39) K774E probably benign Het
Or10a2 C A 7: 106,673,769 (GRCm39) H245N probably benign Het
Or1e26 T C 11: 73,480,237 (GRCm39) N109S probably benign Het
Or2l5 A T 16: 19,333,714 (GRCm39) I224N possibly damaging Het
Or51ag1 G T 7: 103,155,423 (GRCm39) C243* probably null Het
Or8u9 T G 2: 86,001,384 (GRCm39) Y259S probably damaging Het
Pcm1 T A 8: 41,778,405 (GRCm39) D1813E probably damaging Het
Pdcl2 A G 5: 76,467,038 (GRCm39) Y52H probably damaging Het
Piezo1 T C 8: 123,223,502 (GRCm39) T816A probably benign Het
Ptpn13 T G 5: 103,710,157 (GRCm39) L1564R probably damaging Het
Pwwp3a A G 10: 80,074,729 (GRCm39) D438G probably damaging Het
S2bpcox16 T C 12: 81,557,616 (GRCm39) D63G probably damaging Het
Slc7a2 T A 8: 41,368,057 (GRCm39) M607K probably damaging Het
Spon1 A G 7: 113,635,996 (GRCm39) S737G probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Sspo A G 6: 48,467,056 (GRCm39) probably null Het
Tubb4a C A 17: 57,388,163 (GRCm39) E288* probably null Het
Vmn2r87 A T 10: 130,314,513 (GRCm39) C358S probably damaging Het
Other mutations in Snrpa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01622:Snrpa APN 7 26,892,395 (GRCm39) missense probably benign 0.18
IGL01623:Snrpa APN 7 26,892,395 (GRCm39) missense probably benign 0.18
IGL03077:Snrpa APN 7 26,891,186 (GRCm39) missense probably benign 0.00
lowly UTSW 7 26,892,371 (GRCm39) missense possibly damaging 0.59
R1454:Snrpa UTSW 7 26,892,362 (GRCm39) missense probably benign 0.34
R1779:Snrpa UTSW 7 26,891,174 (GRCm39) missense probably benign 0.02
R4238:Snrpa UTSW 7 26,892,293 (GRCm39) critical splice donor site probably null
R4601:Snrpa UTSW 7 26,894,958 (GRCm39) start codon destroyed probably null 0.04
R6986:Snrpa UTSW 7 26,892,389 (GRCm39) missense probably damaging 0.98
R7114:Snrpa UTSW 7 26,891,174 (GRCm39) missense probably benign
R7529:Snrpa UTSW 7 26,888,878 (GRCm39) missense probably benign 0.03
R7756:Snrpa UTSW 7 26,892,371 (GRCm39) missense possibly damaging 0.59
R7758:Snrpa UTSW 7 26,892,371 (GRCm39) missense possibly damaging 0.59
R8126:Snrpa UTSW 7 26,892,373 (GRCm39) missense possibly damaging 0.46
R8380:Snrpa UTSW 7 26,886,713 (GRCm39) missense possibly damaging 0.71
R8532:Snrpa UTSW 7 26,891,027 (GRCm39) critical splice donor site probably null
R8795:Snrpa UTSW 7 26,891,034 (GRCm39) missense possibly damaging 0.70
R9281:Snrpa UTSW 7 26,891,051 (GRCm39) missense probably benign
Posted On 2015-04-16