Incidental Mutation 'IGL02212:Elavl4'
ID 285529
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Elavl4
Ensembl Gene ENSMUSG00000028546
Gene Name ELAV like RNA binding protein 4
Synonyms Hud
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.438) question?
Stock # IGL02212
Quality Score
Status
Chromosome 4
Chromosomal Location 110060919-110209106 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 110063609 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 331 (I331F)
Ref Sequence ENSEMBL: ENSMUSP00000102214 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102722] [ENSMUST00000102723] [ENSMUST00000106597] [ENSMUST00000106598] [ENSMUST00000106600] [ENSMUST00000106601] [ENSMUST00000106603]
AlphaFold Q61701
Predicted Effect probably damaging
Transcript: ENSMUST00000102722
AA Change: I346F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099783
Gene: ENSMUSG00000028546
AA Change: I346F

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 damaging
Transcript: ENSMUST00000102723
AA Change: I355F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099784
Gene: ENSMUSG00000028546
AA Change: I355F

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 damaging
Transcript: ENSMUST00000106597
AA Change: I360F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102207
Gene: ENSMUSG00000028546
AA Change: I360F

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 damaging
Transcript: ENSMUST00000106598
AA Change: I341F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102208
Gene: ENSMUSG00000028546
AA Change: I341F

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 damaging
Transcript: ENSMUST00000106600
AA Change: I358F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000102210
Gene: ENSMUSG00000028546
AA Change: I358F

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 damaging
Transcript: ENSMUST00000106601
AA Change: I341F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000102212
Gene: ENSMUSG00000028546
AA Change: I341F

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 damaging
Transcript: ENSMUST00000106603
AA Change: I331F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102214
Gene: ENSMUSG00000028546
AA Change: I331F

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 noncoding transcript
Transcript: ENSMUST00000153200
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T A 2: 69,079,233 (GRCm39) D1079V probably damaging Het
Adam18 T C 8: 25,127,195 (GRCm39) H467R probably benign Het
Ambra1 T G 2: 91,747,706 (GRCm39) D1056E probably damaging Het
Aoah A C 13: 21,187,071 (GRCm39) N456T probably benign Het
Batf2 T A 19: 6,221,991 (GRCm39) F267Y probably damaging Het
Bbs7 C T 3: 36,648,558 (GRCm39) V397I probably benign Het
Bbs9 T A 9: 22,723,808 (GRCm39) D824E probably benign Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Brip1 A T 11: 86,029,841 (GRCm39) V601E possibly damaging Het
Bub1 A G 2: 127,647,271 (GRCm39) F773L probably damaging Het
Cadps A T 14: 12,522,345 (GRCm38) D606E possibly damaging Het
Cenps T G 4: 149,213,303 (GRCm39) D54A probably damaging Het
Cep170 T A 1: 176,563,502 (GRCm39) N1504I probably damaging Het
Cttnbp2 A G 6: 18,382,748 (GRCm39) V1340A possibly damaging Het
D630003M21Rik A T 2: 158,052,091 (GRCm39) S667T probably benign Het
Defa38 C T 8: 21,585,276 (GRCm39) probably benign Het
Dgkb A G 12: 38,189,413 (GRCm39) Y272C probably damaging Het
Dlx3 A G 11: 95,011,467 (GRCm39) D107G probably benign Het
Drd3 A T 16: 43,582,675 (GRCm39) N56I probably benign Het
Fam167a T G 14: 63,700,078 (GRCm39) S213A probably damaging Het
Fasn A T 11: 120,698,729 (GRCm39) I2489N probably damaging Het
Fbxo43 T C 15: 36,151,957 (GRCm39) K587E probably damaging Het
Fscn2 A G 11: 120,252,881 (GRCm39) D116G probably damaging Het
Galm T C 17: 80,457,546 (GRCm39) V194A probably benign Het
Gpr180 T A 14: 118,397,588 (GRCm39) F361I probably damaging Het
Gpx2 A T 12: 76,839,682 (GRCm39) C105* probably null Het
Gsdmc2 A T 15: 63,699,911 (GRCm39) probably benign Het
Hes2 T G 4: 152,244,982 (GRCm39) S150R probably damaging Het
Ighv1-56 C T 12: 115,206,417 (GRCm39) probably benign Het
Inhbb A T 1: 119,345,713 (GRCm39) V192D probably benign Het
Itgal A T 7: 126,900,152 (GRCm39) M137L probably benign Het
Jak2 A G 19: 29,265,382 (GRCm39) N470D probably benign Het
Jph1 T C 1: 17,161,981 (GRCm39) E227G probably damaging Het
Kcnj6 A T 16: 94,633,346 (GRCm39) I237N probably damaging Het
Kctd8 G T 5: 69,498,031 (GRCm39) P205Q probably benign Het
Klhdc1 A T 12: 69,297,540 (GRCm39) N37I probably damaging Het
Lrp2 T A 2: 69,281,608 (GRCm39) H3921L probably benign Het
Lrp8os2 T C 4: 107,664,245 (GRCm39) probably benign Het
Man2a2 A C 7: 80,012,056 (GRCm39) D700E probably benign Het
Mast1 A T 8: 85,648,026 (GRCm39) L485Q probably damaging Het
Mmp3 A G 9: 7,450,165 (GRCm39) D299G probably damaging Het
Mptx2 T A 1: 173,102,248 (GRCm39) D147V possibly damaging Het
Mrpl9 T A 3: 94,351,124 (GRCm39) probably null Het
Mup21 T G 4: 62,066,829 (GRCm39) E137A probably damaging Het
Mutyh T A 4: 116,672,803 (GRCm39) V52D probably damaging Het
Nalcn T A 14: 123,752,742 (GRCm39) S340C probably damaging Het
Neb A G 2: 52,198,323 (GRCm39) Y474H probably damaging Het
Nol8 A G 13: 49,815,626 (GRCm39) E560G possibly damaging Het
Ntn4 A G 10: 93,480,711 (GRCm39) D145G possibly damaging Het
Nup93 G A 8: 95,038,290 (GRCm39) probably null Het
Or1j17 A G 2: 36,578,194 (GRCm39) Y60C probably damaging Het
Or2n1b C A 17: 38,459,746 (GRCm39) T89K probably benign Het
Or2y14 A T 11: 49,404,737 (GRCm39) I91F probably damaging Het
Or52b2 C T 7: 104,986,350 (GRCm39) C191Y probably damaging Het
Pcdhb8 T A 18: 37,489,465 (GRCm39) V40E possibly damaging Het
Peg3 C T 7: 6,714,415 (GRCm39) R269H probably benign Het
Piwil1 T A 5: 128,827,334 (GRCm39) F648I possibly damaging Het
Psd4 A T 2: 24,295,326 (GRCm39) K827* probably null Het
Retsat T A 6: 72,578,693 (GRCm39) L135* probably null Het
Rtp3 A G 9: 110,816,389 (GRCm39) probably benign Het
Samd14 A G 11: 94,914,176 (GRCm39) Y305C probably damaging Het
Satb1 T A 17: 52,082,319 (GRCm39) Q445L possibly damaging Het
Shbg A G 11: 69,508,035 (GRCm39) L110P probably damaging Het
Slc17a6 T A 7: 51,317,218 (GRCm39) I413N possibly damaging Het
Slu7 A T 11: 43,331,469 (GRCm39) Q201L probably benign Het
Spg11 T C 2: 121,938,638 (GRCm39) T439A probably benign Het
Sstr5 A T 17: 25,710,647 (GRCm39) L194Q possibly damaging Het
Tjp2 A T 19: 24,116,150 (GRCm39) L13Q probably damaging Het
Tnk2 G A 16: 32,498,960 (GRCm39) V758I probably damaging Het
Ttll8 C A 15: 88,801,450 (GRCm39) V413L probably benign Het
Wiz T C 17: 32,587,109 (GRCm39) D67G probably damaging Het
Other mutations in Elavl4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01296:Elavl4 APN 4 110,063,809 (GRCm39) missense probably benign 0.03
IGL01777:Elavl4 APN 4 110,063,858 (GRCm39) critical splice acceptor site probably null
IGL03053:Elavl4 APN 4 110,108,691 (GRCm39) missense possibly damaging 0.89
R0386:Elavl4 UTSW 4 110,063,902 (GRCm39) intron probably benign
R1141:Elavl4 UTSW 4 110,108,565 (GRCm39) nonsense probably null
R1826:Elavl4 UTSW 4 110,108,489 (GRCm39) missense probably damaging 1.00
R5155:Elavl4 UTSW 4 110,149,833 (GRCm39) missense probably null 0.22
R5294:Elavl4 UTSW 4 110,068,627 (GRCm39) missense possibly damaging 0.90
R5507:Elavl4 UTSW 4 110,070,403 (GRCm39) missense probably benign 0.17
R5558:Elavl4 UTSW 4 110,063,800 (GRCm39) missense probably benign 0.37
R5927:Elavl4 UTSW 4 110,147,440 (GRCm39) unclassified probably benign
R5987:Elavl4 UTSW 4 110,147,841 (GRCm39) missense probably benign 0.40
R6376:Elavl4 UTSW 4 110,112,651 (GRCm39) start gained probably benign
R6504:Elavl4 UTSW 4 110,112,579 (GRCm39) splice site probably null
R6987:Elavl4 UTSW 4 110,108,602 (GRCm39) missense possibly damaging 0.70
R7278:Elavl4 UTSW 4 110,068,622 (GRCm39) critical splice donor site probably null
R7431:Elavl4 UTSW 4 110,083,830 (GRCm39) missense probably damaging 1.00
R7717:Elavl4 UTSW 4 110,063,663 (GRCm39) missense probably damaging 1.00
R7979:Elavl4 UTSW 4 110,068,845 (GRCm39) missense probably benign 0.12
R8516:Elavl4 UTSW 4 110,108,576 (GRCm39) missense probably damaging 1.00
R8963:Elavl4 UTSW 4 110,063,776 (GRCm39) missense probably damaging 1.00
R9216:Elavl4 UTSW 4 110,108,546 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16