Incidental Mutation 'IGL03053:Elavl4'
ID409143
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Elavl4
Ensembl Gene ENSMUSG00000028546
Gene NameELAV like RNA binding protein 4
SynonymsHud
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.415) question?
Stock #IGL03053
Quality Score
Status
Chromosome4
Chromosomal Location110203722-110351909 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 110251494 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 16 (S16T)
Ref Sequence ENSEMBL: ENSMUSP00000102214 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102722] [ENSMUST00000102723] [ENSMUST00000106597] [ENSMUST00000106598] [ENSMUST00000106600] [ENSMUST00000106601] [ENSMUST00000106603] [ENSMUST00000138972] [ENSMUST00000142722] [ENSMUST00000153906]
Predicted Effect possibly damaging
Transcript: ENSMUST00000102722
AA Change: S18T

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000099783
Gene: ENSMUSG00000028546
AA Change: S18T

DomainStartEndE-ValueType
low complexity region 18 33 N/A INTRINSIC
RRM 52 125 7.57e-24 SMART
RRM 138 213 1.35e-20 SMART
low complexity region 219 233 N/A INTRINSIC
RRM 289 362 2.37e-25 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000102723
AA Change: S13T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000099784
Gene: ENSMUSG00000028546
AA Change: S13T

DomainStartEndE-ValueType
low complexity region 13 28 N/A INTRINSIC
RRM 47 120 7.57e-24 SMART
RRM 133 208 1.35e-20 SMART
low complexity region 214 228 N/A INTRINSIC
RRM 298 371 2.37e-25 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106597
AA Change: S18T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102207
Gene: ENSMUSG00000028546
AA Change: S18T

DomainStartEndE-ValueType
low complexity region 18 33 N/A INTRINSIC
RRM 52 125 7.57e-24 SMART
RRM 138 213 1.35e-20 SMART
low complexity region 219 233 N/A INTRINSIC
RRM 303 376 2.37e-25 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106598
AA Change: S13T

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000102208
Gene: ENSMUSG00000028546
AA Change: S13T

DomainStartEndE-ValueType
low complexity region 13 28 N/A INTRINSIC
RRM 47 120 7.57e-24 SMART
RRM 133 208 1.35e-20 SMART
low complexity region 214 228 N/A INTRINSIC
RRM 284 357 2.37e-25 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106600
AA Change: S30T

PolyPhen 2 Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000102210
Gene: ENSMUSG00000028546
AA Change: S30T

DomainStartEndE-ValueType
low complexity region 30 45 N/A INTRINSIC
RRM 64 137 7.57e-24 SMART
RRM 150 225 1.35e-20 SMART
low complexity region 231 245 N/A INTRINSIC
RRM 301 374 2.37e-25 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106601
AA Change: S13T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102212
Gene: ENSMUSG00000028546
AA Change: S13T

DomainStartEndE-ValueType
low complexity region 13 28 N/A INTRINSIC
RRM 47 120 7.57e-24 SMART
RRM 133 208 1.35e-20 SMART
low complexity region 214 228 N/A INTRINSIC
RRM 284 357 2.37e-25 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000106603
AA Change: S16T

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000102214
Gene: ENSMUSG00000028546
AA Change: S16T

DomainStartEndE-ValueType
low complexity region 16 31 N/A INTRINSIC
RRM 50 123 7.57e-24 SMART
RRM 136 211 1.35e-20 SMART
low complexity region 217 231 N/A INTRINSIC
RRM 274 347 2.37e-25 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000138972
AA Change: S11T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000123014
Gene: ENSMUSG00000028546
AA Change: S11T

DomainStartEndE-ValueType
low complexity region 11 26 N/A INTRINSIC
RRM 45 118 7.57e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000142722
AA Change: S26T

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000121828
Gene: ENSMUSG00000028546
AA Change: S26T

DomainStartEndE-ValueType
low complexity region 26 41 N/A INTRINSIC
Pfam:RRM_1 61 92 1.8e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144554
Predicted Effect probably benign
Transcript: ENSMUST00000153906
AA Change: S11T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000120942
Gene: ENSMUSG00000028546
AA Change: S11T

DomainStartEndE-ValueType
low complexity region 11 26 N/A INTRINSIC
Pfam:RRM_1 46 95 1.3e-14 PFAM
Pfam:RRM_6 46 95 1.5e-7 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele display increased neural progenitor self-renewal and impaired neuronal differentiation, partial penetrance of hind limb clasping, and impaired coordination. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot11 G A 4: 106,755,853 Q342* probably null Het
Arglu1 T A 8: 8,683,960 I119L probably benign Het
Atp1a2 G A 1: 172,278,356 T914I probably damaging Het
Birc6 C T 17: 74,565,972 R409C probably damaging Het
Brwd1 A T 16: 96,017,677 S1318R possibly damaging Het
C1qtnf12 A T 4: 155,966,464 N297Y probably damaging Het
Cbwd1 T A 19: 24,955,377 E97D probably damaging Het
Cyp2a4 A T 7: 26,313,550 probably benign Het
Cyp2j7 C T 4: 96,230,037 M106I probably benign Het
Dis3 A G 14: 99,098,734 V112A probably benign Het
Ehd3 A G 17: 73,805,442 Y67C probably damaging Het
F2rl1 A C 13: 95,513,618 V252G probably benign Het
Fggy A T 4: 95,926,809 probably benign Het
Hc G T 2: 35,024,198 N832K probably benign Het
Hnf1a T A 5: 114,970,733 M38L probably benign Het
Kif13a T C 13: 46,752,088 N793S probably benign Het
Kit A G 5: 75,610,914 N244D probably benign Het
Mb21d1 A T 9: 78,437,437 F234Y probably benign Het
Mgat5b A G 11: 116,923,450 E60G possibly damaging Het
Obsl1 T C 1: 75,493,079 H1098R probably benign Het
Olfr1094 A G 2: 86,829,263 I170M possibly damaging Het
Olfr1178 A G 2: 88,391,594 M116V probably damaging Het
Olfr1230 A C 2: 89,296,445 I275S probably damaging Het
Olfr138 A C 17: 38,274,791 S7R probably damaging Het
Olfr166 A T 16: 19,487,219 H127L probably benign Het
Olfr198 A G 16: 59,202,247 Y60H probably damaging Het
Olfr215 T C 6: 116,582,245 R234G possibly damaging Het
Pitpnm2 A G 5: 124,143,601 I42T probably damaging Het
Prkd2 A G 7: 16,850,263 D347G possibly damaging Het
Prkdc A G 16: 15,834,166 I3806V probably benign Het
Rasgrp2 T C 19: 6,407,332 probably benign Het
Rc3h1 T A 1: 160,955,817 D734E probably benign Het
Rtel1 A G 2: 181,351,944 K619E probably benign Het
Tnfrsf26 T C 7: 143,614,860 D147G possibly damaging Het
Ufl1 A G 4: 25,275,833 I110T probably damaging Het
Ugt2b36 A G 5: 87,092,074 S151P possibly damaging Het
Vmn2r25 T C 6: 123,823,118 Y755C probably damaging Het
Zfhx3 T C 8: 108,946,500 V1394A probably damaging Het
Zzef1 G T 11: 72,831,539 probably benign Het
Other mutations in Elavl4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01296:Elavl4 APN 4 110206612 missense probably benign 0.03
IGL01777:Elavl4 APN 4 110206661 critical splice acceptor site probably null
IGL02212:Elavl4 APN 4 110206412 missense probably damaging 1.00
R0386:Elavl4 UTSW 4 110206705 intron probably benign
R1141:Elavl4 UTSW 4 110251368 nonsense probably null
R1826:Elavl4 UTSW 4 110251292 missense probably damaging 1.00
R5155:Elavl4 UTSW 4 110292636 missense probably null 0.22
R5294:Elavl4 UTSW 4 110211430 missense possibly damaging 0.90
R5507:Elavl4 UTSW 4 110213206 missense probably benign 0.17
R5558:Elavl4 UTSW 4 110206603 missense probably benign 0.37
R5927:Elavl4 UTSW 4 110290243 unclassified probably benign
R5987:Elavl4 UTSW 4 110290644 missense probably benign 0.40
R6376:Elavl4 UTSW 4 110255454 start gained probably benign
R6504:Elavl4 UTSW 4 110255382 splice site probably null
R6987:Elavl4 UTSW 4 110251405 missense possibly damaging 0.70
R7278:Elavl4 UTSW 4 110211425 critical splice donor site probably null
R7431:Elavl4 UTSW 4 110226633 missense probably damaging 1.00
R7717:Elavl4 UTSW 4 110206466 missense probably damaging 1.00
R7979:Elavl4 UTSW 4 110211648 missense probably benign 0.12
R8516:Elavl4 UTSW 4 110251379 missense probably damaging 1.00
Posted On2016-08-02