Incidental Mutation 'IGL02193:5830411N06Rik'
ID283971
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 5830411N06Rik
Ensembl Gene ENSMUSG00000054672
Gene NameRIKEN cDNA 5830411N06 gene
SynonymsScart2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02193
Quality Score
Status
Chromosome7
Chromosomal Location140247284-140300736 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 140249000 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 191 (T191A)
Ref Sequence ENSEMBL: ENSMUSP00000131905 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093984] [ENSMUST00000164583]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000059882
SMART Domains Protein: ENSMUSP00000061346
Gene: ENSMUSG00000054672

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
SR 29 130 1.49e-18 SMART
SR 137 233 2.53e-4 SMART
SR 238 336 1.65e-34 SMART
SR 340 440 4.53e-32 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000093984
AA Change: T191A

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000091520
Gene: ENSMUSG00000054672
AA Change: T191A

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
SR 29 130 1.49e-18 SMART
SR 137 233 2.53e-4 SMART
SR 238 336 1.65e-34 SMART
SR 340 440 4.53e-32 SMART
SR 446 546 8.78e-30 SMART
SR 551 651 1.26e-53 SMART
SR 656 756 2.88e-16 SMART
SR 783 883 7.62e-48 SMART
transmembrane domain 903 925 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000164583
AA Change: T191A

PolyPhen 2 Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000131905
Gene: ENSMUSG00000054672
AA Change: T191A

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
SR 29 130 1.49e-18 SMART
SR 137 233 2.53e-4 SMART
Blast:SR 291 349 5e-12 BLAST
SR 354 452 1.65e-34 SMART
SR 456 556 4.53e-32 SMART
SR 562 662 8.78e-30 SMART
SR 667 767 1.26e-53 SMART
SR 772 872 2.88e-16 SMART
SR 899 999 7.62e-48 SMART
transmembrane domain 1019 1041 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210212
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130011E15Rik G T 19: 45,972,884 T118K probably benign Het
Agl A G 3: 116,779,166 L812P probably damaging Het
Ankmy1 A T 1: 92,881,045 F714I probably benign Het
Celf5 A G 10: 81,470,673 I52T probably damaging Het
Clstn1 T C 4: 149,645,352 V771A probably benign Het
Enpep G T 3: 129,281,687 L661I possibly damaging Het
Faxc A G 4: 21,993,486 N377D possibly damaging Het
Gabrb3 A G 7: 57,792,516 E190G probably damaging Het
Gm4787 C T 12: 81,378,528 M285I probably benign Het
Gm5900 A C 7: 104,950,024 noncoding transcript Het
Gm6133 A G 18: 78,350,093 N101D probably benign Het
Gtse1 A G 15: 85,862,330 K116E probably benign Het
H2-D1 T G 17: 35,265,809 H215Q possibly damaging Het
Hdc A T 2: 126,601,780 probably benign Het
Hnrnph3 T C 10: 63,017,277 H195R probably damaging Het
Ipo8 T C 6: 148,777,284 T939A probably damaging Het
Krt79 G T 15: 101,939,905 P104T possibly damaging Het
Lama4 A T 10: 39,042,674 M384L probably benign Het
Lamb2 T G 9: 108,489,360 D1590E probably benign Het
Ly6i A T 15: 74,983,030 C10* probably null Het
Mamdc4 G A 2: 25,564,446 A1082V probably benign Het
Mrvi1 A T 7: 110,898,955 L411Q probably damaging Het
Nlrp4a G T 7: 26,449,278 K103N possibly damaging Het
Nlrp4a T A 7: 26,459,692 L799H probably damaging Het
Olfr1040 A T 2: 86,146,715 N6K probably benign Het
Olfr1383 C T 11: 49,523,744 T7I possibly damaging Het
Olfr449 T C 6: 42,838,819 probably benign Het
Otud6b T C 4: 14,812,543 H268R probably damaging Het
Peg3 T C 7: 6,711,928 E138G probably damaging Het
Phactr1 T C 13: 42,709,700 probably benign Het
Psmf1 A G 2: 151,720,813 probably benign Het
Rab32 T C 10: 10,546,455 probably benign Het
Rfwd3 C T 8: 111,273,015 probably benign Het
Slc25a3 A G 10: 91,118,115 V245A probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Thoc1 A G 18: 9,992,863 D545G probably benign Het
Tpst1 T A 5: 130,101,896 M69K possibly damaging Het
Trank1 T C 9: 111,367,276 V1456A probably benign Het
Trappc6a T A 7: 19,515,219 C124S possibly damaging Het
Tsc22d2 T A 3: 58,460,207 probably benign Het
Other mutations in 5830411N06Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00465:5830411N06Rik APN 7 140294842 missense probably damaging 0.99
IGL01101:5830411N06Rik APN 7 140296104 missense probably benign 0.35
IGL01120:5830411N06Rik APN 7 140296559 missense probably benign 0.02
IGL01958:5830411N06Rik APN 7 140274127 missense probably damaging 1.00
IGL02150:5830411N06Rik APN 7 140297859 missense possibly damaging 0.84
IGL02239:5830411N06Rik APN 7 140295843 missense probably damaging 1.00
IGL02335:5830411N06Rik APN 7 140296540 missense probably damaging 1.00
IGL02569:5830411N06Rik APN 7 140298362 missense probably benign 0.01
IGL02993:5830411N06Rik APN 7 140296573 missense probably benign 0.07
IGL03261:5830411N06Rik APN 7 140294833 missense probably benign 0.00
IGL03365:5830411N06Rik APN 7 140296769 missense probably damaging 1.00
IGL03399:5830411N06Rik APN 7 140247956 missense probably benign 0.00
IGL03052:5830411N06Rik UTSW 7 140248914 missense probably damaging 1.00
PIT4791001:5830411N06Rik UTSW 7 140274062 missense possibly damaging 0.53
R0021:5830411N06Rik UTSW 7 140296397 missense probably benign 0.15
R0021:5830411N06Rik UTSW 7 140296397 missense probably benign 0.15
R0347:5830411N06Rik UTSW 7 140297854 missense probably damaging 1.00
R0374:5830411N06Rik UTSW 7 140248961 missense probably damaging 1.00
R0639:5830411N06Rik UTSW 7 140247959 missense probably benign 0.01
R0667:5830411N06Rik UTSW 7 140261537 missense possibly damaging 0.73
R0789:5830411N06Rik UTSW 7 140248220 missense probably damaging 1.00
R0959:5830411N06Rik UTSW 7 140294791 missense probably damaging 1.00
R1316:5830411N06Rik UTSW 7 140299670 missense probably benign 0.09
R1764:5830411N06Rik UTSW 7 140297265 missense probably benign 0.00
R2247:5830411N06Rik UTSW 7 140249129 missense probably null 0.96
R2379:5830411N06Rik UTSW 7 140299769 missense probably benign 0.15
R4112:5830411N06Rik UTSW 7 140298368 nonsense probably null
R4114:5830411N06Rik UTSW 7 140297910 missense probably damaging 1.00
R4346:5830411N06Rik UTSW 7 140247965 missense probably damaging 0.97
R4836:5830411N06Rik UTSW 7 140299108 missense probably benign
R4956:5830411N06Rik UTSW 7 140298362 missense probably benign 0.00
R5208:5830411N06Rik UTSW 7 140298036 missense probably benign 0.00
R5571:5830411N06Rik UTSW 7 140249123 missense probably damaging 1.00
R5583:5830411N06Rik UTSW 7 140296826 missense probably damaging 1.00
R5645:5830411N06Rik UTSW 7 140248940 missense possibly damaging 0.95
R6183:5830411N06Rik UTSW 7 140296034 missense possibly damaging 0.82
R6995:5830411N06Rik UTSW 7 140261601 missense probably benign
R7436:5830411N06Rik UTSW 7 140261607 missense probably benign
R7621:5830411N06Rik UTSW 7 140296829 missense probably damaging 1.00
R7662:5830411N06Rik UTSW 7 140294812 missense possibly damaging 0.58
R7669:5830411N06Rik UTSW 7 140296321 missense possibly damaging 0.47
R7686:5830411N06Rik UTSW 7 140249052 missense probably benign 0.00
Posted On2015-04-16