Incidental Mutation 'IGL02040:Hnrnpab'
ID184711
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hnrnpab
Ensembl Gene ENSMUSG00000020358
Gene Nameheterogeneous nuclear ribonucleoprotein A/B
SynonymsCBF-A, Hnrpab, Cgbfa
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.590) question?
Stock #IGL02040
Quality Score
Status
Chromosome11
Chromosomal Location51600100-51606847 bp(-) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) A to G at 51601795 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000132190 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020625] [ENSMUST00000074669] [ENSMUST00000101249] [ENSMUST00000101250] [ENSMUST00000109103] [ENSMUST00000167797]
Predicted Effect probably benign
Transcript: ENSMUST00000020625
SMART Domains Protein: ENSMUSP00000020625
Gene: ENSMUSG00000020359

DomainStartEndE-ValueType
low complexity region 14 25 N/A INTRINSIC
Pfam:Aminotran_3 27 433 2.1e-81 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000074669
SMART Domains Protein: ENSMUSP00000074238
Gene: ENSMUSG00000020358

DomainStartEndE-ValueType
low complexity region 21 55 N/A INTRINSIC
RRM 76 148 3.59e-25 SMART
RRM 160 232 5.79e-20 SMART
low complexity region 240 270 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000101249
AA Change: Y295H
SMART Domains Protein: ENSMUSP00000098807
Gene: ENSMUSG00000020358
AA Change: Y295H

DomainStartEndE-ValueType
low complexity region 21 55 N/A INTRINSIC
RRM 76 148 3.59e-25 SMART
RRM 160 232 5.79e-20 SMART
low complexity region 240 310 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000101250
SMART Domains Protein: ENSMUSP00000098808
Gene: ENSMUSG00000020359

DomainStartEndE-ValueType
low complexity region 14 25 N/A INTRINSIC
Pfam:Aminotran_3 33 212 8.2e-29 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000109103
AA Change: Y295H
SMART Domains Protein: ENSMUSP00000104731
Gene: ENSMUSG00000020358
AA Change: Y295H

DomainStartEndE-ValueType
Pfam:CBFNT 1 75 5.7e-23 PFAM
RRM 76 148 3.59e-25 SMART
RRM 160 232 5.79e-20 SMART
low complexity region 240 313 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156128
Predicted Effect probably benign
Transcript: ENSMUST00000167797
SMART Domains Protein: ENSMUSP00000132190
Gene: ENSMUSG00000020359

DomainStartEndE-ValueType
low complexity region 14 25 N/A INTRINSIC
Pfam:Aminotran_3 33 373 1.5e-75 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169995
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a protein with consensus RNA binding domains present in a number of other RNA binding proteins and a glycine-rich C-terminus. This gene overlaps in a tail-to-tail orientation the gene encoding alanine-glyoxylate aminotransferase 2-like 2. Some of the exons of this gene are interspersed with exons of alanine-glyoxylate aminotransferase 2-like 2. Two alternatively spliced transcript variants that encode distinct proteins have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal neuron differentiation, increased susceptibility to neuronal excitotoxicity and long neurites. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700109H08Rik T G 5: 3,580,405 F107C probably damaging Het
4930590J08Rik T C 6: 91,918,110 V262A probably benign Het
A830018L16Rik T A 1: 11,933,598 probably benign Het
Adgrb1 T C 15: 74,541,575 V536A possibly damaging Het
Ano6 T G 15: 95,955,944 I667R probably benign Het
Ap3b1 T A 13: 94,408,845 probably null Het
Azin2 G T 4: 128,950,658 L37M possibly damaging Het
Caap1 A G 4: 94,550,430 I174T probably damaging Het
Cacna1h A G 17: 25,397,611 V46A probably benign Het
Chrna6 T C 8: 27,407,261 D196G probably damaging Het
Col19a1 A G 1: 24,312,045 probably null Het
Defb22 G T 2: 152,490,056 T19K possibly damaging Het
Dhx36 T C 3: 62,501,015 D134G probably benign Het
Dync1h1 A G 12: 110,637,124 I2211V probably benign Het
Ecel1 A C 1: 87,154,923 C23G probably benign Het
Elmod2 A G 8: 83,321,497 V112A probably damaging Het
Enpp1 T C 10: 24,655,856 K510E probably damaging Het
Erbb4 A T 1: 68,042,535 S1113R probably damaging Het
Esf1 A T 2: 140,129,261 D653E possibly damaging Het
Exd1 A G 2: 119,540,065 V54A possibly damaging Het
Fam227b A T 2: 126,121,084 probably benign Het
Fnbp1l A G 3: 122,570,953 probably benign Het
Foxf1 A G 8: 121,085,345 N316S probably damaging Het
Gm12794 G A 4: 101,941,134 V101I possibly damaging Het
Gm15448 A G 7: 3,821,517 probably benign Het
Gpaa1 T C 15: 76,334,295 V426A probably benign Het
Gpc2 A G 5: 138,276,582 probably null Het
Hsf4 T G 8: 105,275,667 probably benign Het
Inpp4a G T 1: 37,396,085 R179L probably damaging Het
Jakmip2 T A 18: 43,571,854 M361L probably benign Het
Kif15 A C 9: 123,017,385 Y117S probably damaging Het
Lnpep T C 17: 17,544,905 H761R probably benign Het
Masp2 G T 4: 148,603,813 C180F probably damaging Het
Mical2 A G 7: 112,311,406 E261G probably damaging Het
Mtmr7 T C 8: 40,560,885 I211V probably benign Het
Nsd2 T C 5: 33,867,571 probably benign Het
Olfr1062 A G 2: 86,422,992 I228T probably damaging Het
Olfr1226 A G 2: 89,193,563 I157T probably benign Het
Olfr638 A G 7: 104,003,407 N44S probably damaging Het
Olfr933 T C 9: 38,976,614 probably benign Het
Oxct1 G A 15: 4,026,768 probably benign Het
Plbd2 C T 5: 120,487,442 S430N probably damaging Het
Postn A G 3: 54,362,689 K63R probably benign Het
Proc A T 18: 32,134,860 V75E probably benign Het
Ptprt T C 2: 162,238,072 Y269C probably damaging Het
Rcc2 T C 4: 140,720,591 V476A possibly damaging Het
Recql5 A G 11: 115,932,797 V41A possibly damaging Het
Ros1 T A 10: 52,115,922 I1402F probably damaging Het
Rpgrip1 C T 14: 52,121,019 T194I possibly damaging Het
Scin T C 12: 40,069,453 probably benign Het
Skint4 T C 4: 112,146,482 probably benign Het
Sptan1 T A 2: 30,013,713 S1545T probably benign Het
Tpra1 A T 6: 88,910,182 H168L possibly damaging Het
Trim47 T C 11: 116,107,908 E295G probably damaging Het
Ttc28 T A 5: 110,892,936 C63* probably null Het
Usp45 G A 4: 21,830,433 R696H probably benign Het
Zfyve27 G A 19: 42,179,391 R124Q probably damaging Het
Other mutations in Hnrnpab
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02806:Hnrnpab APN 11 51605478 missense probably benign 0.03
F5770:Hnrnpab UTSW 11 51602624 missense probably benign 0.39
R0172:Hnrnpab UTSW 11 51602667 missense probably damaging 0.99
R3619:Hnrnpab UTSW 11 51602611 missense possibly damaging 0.73
R3747:Hnrnpab UTSW 11 51602646 missense probably benign 0.04
R5489:Hnrnpab UTSW 11 51604813 missense probably damaging 1.00
R5854:Hnrnpab UTSW 11 51604681 missense probably damaging 1.00
R5910:Hnrnpab UTSW 11 51601454 missense probably benign
R6901:Hnrnpab UTSW 11 51601848 intron probably benign
V7581:Hnrnpab UTSW 11 51602624 missense probably benign 0.39
V7583:Hnrnpab UTSW 11 51602624 missense probably benign 0.39
X0025:Hnrnpab UTSW 11 51604729 missense probably damaging 1.00
X0064:Hnrnpab UTSW 11 51601801 intron probably benign
Z1088:Hnrnpab UTSW 11 51601746 intron probably benign
Posted On2014-05-07