Incidental Mutation 'IGL01701:D11Wsu47e'
ID104471
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol D11Wsu47e
Ensembl Gene ENSMUSG00000041623
Gene NameDNA segment, Chr 11, Wayne State University 47, expressed
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.079) question?
Stock #IGL01701
Quality Score
Status
Chromosome11
Chromosomal Location113684412-113694647 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 113689101 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 441 (F441L)
Ref Sequence ENSEMBL: ENSMUSP00000102232 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042227] [ENSMUST00000106621] [ENSMUST00000120194] [ENSMUST00000123466] [ENSMUST00000153732]
Predicted Effect probably benign
Transcript: ENSMUST00000042227
AA Change: F441L

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000042025
Gene: ENSMUSG00000041623
AA Change: F441L

DomainStartEndE-ValueType
low complexity region 273 283 N/A INTRINSIC
low complexity region 491 510 N/A INTRINSIC
transmembrane domain 529 548 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106621
AA Change: F441L

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000102232
Gene: ENSMUSG00000041623
AA Change: F441L

DomainStartEndE-ValueType
low complexity region 273 283 N/A INTRINSIC
low complexity region 491 510 N/A INTRINSIC
transmembrane domain 529 548 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000120194
SMART Domains Protein: ENSMUSP00000113652
Gene: ENSMUSG00000041629

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
low complexity region 22 48 N/A INTRINSIC
low complexity region 52 71 N/A INTRINSIC
Pfam:FAM104 75 185 3.1e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123466
Predicted Effect probably benign
Transcript: ENSMUST00000153732
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110008L16Rik T G 12: 55,308,875 probably benign Het
2410089E03Rik T C 15: 8,203,257 probably benign Het
4930568D16Rik A G 2: 35,364,764 Y36H possibly damaging Het
Adgrv1 T C 13: 81,419,631 D5141G possibly damaging Het
Adk G A 14: 21,103,854 E42K probably damaging Het
Akap1 C A 11: 88,845,132 V268L probably benign Het
Arl6ip5 A G 6: 97,210,813 probably benign Het
Atrx A G X: 105,830,920 S1945P probably damaging Het
Clec5a G A 6: 40,582,226 probably benign Het
Cul3 G T 1: 80,277,423 H6Q probably damaging Het
E330021D16Rik T A 6: 136,400,806 Y342F probably damaging Het
Fn1 T C 1: 71,629,853 probably benign Het
Furin C A 7: 80,392,492 V452F probably benign Het
Furin T A 7: 80,390,759 D777V probably benign Het
Hmgb4 G A 4: 128,260,373 T134I probably benign Het
Ift74 A T 4: 94,662,658 E349V possibly damaging Het
Igkv6-23 A T 6: 70,260,896 L13Q probably damaging Het
Lekr1 A T 3: 65,684,004 Y54F probably damaging Het
Lman1 A T 18: 65,994,850 V241E possibly damaging Het
Mat1a T A 14: 41,114,815 D167E probably benign Het
Myl6 G A 10: 128,492,097 A130V probably damaging Het
Myo9a T C 9: 59,884,594 probably null Het
Nlrp4f A T 13: 65,199,409 W12R probably damaging Het
Nr1h4 T C 10: 89,478,807 R276G probably benign Het
Olfr1026 C A 2: 85,924,077 Q270K possibly damaging Het
Olfr1314 T C 2: 112,092,506 N65S possibly damaging Het
Pag1 C T 3: 9,693,826 E411K probably damaging Het
Rttn A G 18: 89,064,215 N1422D probably damaging Het
Ryr1 C T 7: 29,059,810 R3345Q probably damaging Het
Slc12a8 T C 16: 33,540,910 L85P probably damaging Het
Slc22a17 T C 14: 54,907,261 H565R probably damaging Het
Slc46a3 T C 5: 147,886,298 T245A probably benign Het
Thsd7b A G 1: 129,430,928 H33R probably benign Het
Tmem131 A G 1: 36,808,237 V1260A probably benign Het
Tmem30a A T 9: 79,774,179 F236Y probably damaging Het
Trim30b A C 7: 104,366,051 Y43* probably null Het
Trpc3 T C 3: 36,671,594 K78E possibly damaging Het
Twist2 A T 1: 91,802,014 M130L probably benign Het
Other mutations in D11Wsu47e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01097:D11Wsu47e APN 11 113692470 missense probably benign 0.19
R0483:D11Wsu47e UTSW 11 113689195 missense possibly damaging 0.92
R0601:D11Wsu47e UTSW 11 113687886 missense probably benign 0.38
R1567:D11Wsu47e UTSW 11 113687902 missense probably damaging 0.99
R4834:D11Wsu47e UTSW 11 113688979 missense probably benign 0.03
R4923:D11Wsu47e UTSW 11 113688979 missense probably benign 0.03
R5194:D11Wsu47e UTSW 11 113688828 missense possibly damaging 0.83
R5779:D11Wsu47e UTSW 11 113687992 missense probably benign 0.02
R5815:D11Wsu47e UTSW 11 113687957 unclassified probably null
R6174:D11Wsu47e UTSW 11 113688975 missense possibly damaging 0.46
R6566:D11Wsu47e UTSW 11 113687998 missense probably damaging 0.96
R6837:D11Wsu47e UTSW 11 113688613 missense possibly damaging 0.90
R6974:D11Wsu47e UTSW 11 113687992 missense probably benign 0.02
Posted On2014-01-21