Incidental Mutation 'R2938:Rbm10'
ID256132
Institutional Source Beutler Lab
Gene Symbol Rbm10
Ensembl Gene ENSMUSG00000031060
Gene NameRNA binding motif protein 10
Synonyms
MMRRC Submission 040515-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.919) question?
Stock #R2938 (G1)
Quality Score222
Status Validated
ChromosomeX
Chromosomal Location20617503-20650901 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 20647695 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 429 (L429P)
Ref Sequence ENSEMBL: ENSMUSP00000111031 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064911] [ENSMUST00000082089] [ENSMUST00000084383] [ENSMUST00000115374] [ENSMUST00000115375] [ENSMUST00000177738]
Predicted Effect possibly damaging
Transcript: ENSMUST00000064911
AA Change: L506P

PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000068188
Gene: ENSMUSG00000031060
AA Change: L506P

DomainStartEndE-ValueType
low complexity region 2 21 N/A INTRINSIC
low complexity region 56 73 N/A INTRINSIC
low complexity region 80 88 N/A INTRINSIC
low complexity region 113 125 N/A INTRINSIC
RRM 130 205 1.99e-9 SMART
ZnF_RBZ 215 239 1.2e-8 SMART
RRM 301 380 4.75e-7 SMART
low complexity region 397 419 N/A INTRINSIC
low complexity region 540 562 N/A INTRINSIC
low complexity region 593 605 N/A INTRINSIC
low complexity region 629 648 N/A INTRINSIC
low complexity region 739 751 N/A INTRINSIC
ZnF_C2H2 759 784 7.55e-1 SMART
coiled coil region 785 818 N/A INTRINSIC
G_patch 856 902 8.39e-20 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000082089
AA Change: L429P

PolyPhen 2 Score 0.671 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000080738
Gene: ENSMUSG00000031060
AA Change: L429P

DomainStartEndE-ValueType
low complexity region 2 21 N/A INTRINSIC
RRM 60 128 9.2e-2 SMART
ZnF_RBZ 138 162 1.2e-8 SMART
RRM 224 303 4.75e-7 SMART
low complexity region 320 342 N/A INTRINSIC
low complexity region 463 485 N/A INTRINSIC
low complexity region 516 528 N/A INTRINSIC
low complexity region 552 571 N/A INTRINSIC
low complexity region 662 674 N/A INTRINSIC
ZnF_C2H2 682 707 7.55e-1 SMART
coiled coil region 708 741 N/A INTRINSIC
G_patch 779 825 8.39e-20 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000084383
AA Change: L429P

PolyPhen 2 Score 0.671 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000111031
Gene: ENSMUSG00000031060
AA Change: L429P

DomainStartEndE-ValueType
low complexity region 2 21 N/A INTRINSIC
RRM 60 128 9.2e-2 SMART
ZnF_RBZ 138 162 1.2e-8 SMART
RRM 224 303 4.75e-7 SMART
low complexity region 320 342 N/A INTRINSIC
low complexity region 463 485 N/A INTRINSIC
low complexity region 516 528 N/A INTRINSIC
low complexity region 552 571 N/A INTRINSIC
low complexity region 662 674 N/A INTRINSIC
ZnF_C2H2 682 707 7.55e-1 SMART
coiled coil region 708 741 N/A INTRINSIC
G_patch 779 825 8.39e-20 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000115374
AA Change: L506P

PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000111032
Gene: ENSMUSG00000031060
AA Change: L506P

DomainStartEndE-ValueType
low complexity region 2 21 N/A INTRINSIC
low complexity region 56 73 N/A INTRINSIC
low complexity region 80 88 N/A INTRINSIC
low complexity region 113 125 N/A INTRINSIC
RRM 130 205 1.99e-9 SMART
ZnF_RBZ 215 239 1.2e-8 SMART
RRM 301 380 4.75e-7 SMART
low complexity region 397 419 N/A INTRINSIC
low complexity region 540 562 N/A INTRINSIC
low complexity region 593 605 N/A INTRINSIC
low complexity region 629 648 N/A INTRINSIC
low complexity region 739 751 N/A INTRINSIC
ZnF_C2H2 759 784 7.55e-1 SMART
coiled coil region 785 818 N/A INTRINSIC
G_patch 856 902 8.39e-20 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000115375
AA Change: L505P

PolyPhen 2 Score 0.616 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000111033
Gene: ENSMUSG00000031060
AA Change: L505P

DomainStartEndE-ValueType
low complexity region 2 21 N/A INTRINSIC
low complexity region 56 73 N/A INTRINSIC
low complexity region 80 88 N/A INTRINSIC
low complexity region 113 125 N/A INTRINSIC
RRM 130 205 1.99e-9 SMART
ZnF_RBZ 215 239 1.2e-8 SMART
RRM 301 379 2.69e-6 SMART
low complexity region 396 418 N/A INTRINSIC
low complexity region 539 561 N/A INTRINSIC
low complexity region 592 604 N/A INTRINSIC
low complexity region 628 647 N/A INTRINSIC
low complexity region 738 750 N/A INTRINSIC
ZnF_C2H2 758 783 7.55e-1 SMART
coiled coil region 784 817 N/A INTRINSIC
G_patch 855 901 8.39e-20 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141128
Predicted Effect possibly damaging
Transcript: ENSMUST00000177738
AA Change: L505P

PolyPhen 2 Score 0.616 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000136209
Gene: ENSMUSG00000031060
AA Change: L505P

DomainStartEndE-ValueType
low complexity region 2 21 N/A INTRINSIC
low complexity region 56 73 N/A INTRINSIC
low complexity region 80 88 N/A INTRINSIC
low complexity region 113 125 N/A INTRINSIC
RRM 130 205 1.99e-9 SMART
ZnF_RBZ 215 239 1.2e-8 SMART
RRM 301 379 2.69e-6 SMART
low complexity region 396 418 N/A INTRINSIC
low complexity region 539 561 N/A INTRINSIC
low complexity region 592 604 N/A INTRINSIC
low complexity region 628 647 N/A INTRINSIC
low complexity region 738 750 N/A INTRINSIC
ZnF_C2H2 758 783 7.55e-1 SMART
coiled coil region 784 817 N/A INTRINSIC
G_patch 855 901 8.39e-20 SMART
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency 100% (62/62)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear protein that belongs to a family proteins that contain an RNA-binding motif. The encoded protein associates with hnRNP proteins and may be involved in regulating alternative splicing. Defects in this gene are the cause of the X-linked recessive disorder, TARP syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2011]
PHENOTYPE: Male chimeras hemizygous for a gene trapped allele appear normal at E8.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arfgef2 T A 2: 166,894,733 I1775K probably damaging Het
Arhgap45 T A 10: 80,029,002 M933K probably damaging Het
Astn2 A T 4: 65,992,313 H427Q possibly damaging Het
Bace2 T C 16: 97,412,188 probably null Het
Cacna1b A G 2: 24,606,528 V125A probably benign Het
Cbarp T C 10: 80,131,769 D539G probably damaging Het
Ccdc59 A T 10: 105,841,527 K9M possibly damaging Het
Ccdc73 T A 2: 104,975,635 L296* probably null Het
Cd40 G C 2: 165,069,702 V191L probably benign Het
Cdc6 A G 11: 98,910,760 I217V probably benign Het
Cdh15 G A 8: 122,862,024 R279Q probably damaging Het
Cdr1 T G X: 61,185,362 D66A unknown Het
Cela3b A G 4: 137,423,263 I208T probably benign Het
Col1a2 A T 6: 4,520,788 Q375L possibly damaging Het
Csn1s1 A T 5: 87,677,136 Q221L possibly damaging Het
Cstl1 T A 2: 148,751,057 I44N possibly damaging Het
Depdc5 G A 5: 32,901,621 probably null Het
Dthd1 A G 5: 62,842,957 I541V probably benign Het
Eml6 G A 11: 29,833,049 probably benign Het
Fkbp15 T A 4: 62,304,663 T1000S probably benign Het
Gimap8 A T 6: 48,658,796 R498S possibly damaging Het
Glis1 A G 4: 107,632,291 N692D possibly damaging Het
Gpr83 A G 9: 14,864,871 T163A probably benign Het
Hmgcr G A 13: 96,663,068 L173F probably damaging Het
Htr2b T A 1: 86,102,455 I173F possibly damaging Het
Ifna11 T C 4: 88,820,293 L112P probably damaging Het
Lmod1 A G 1: 135,363,916 K170E probably benign Het
Lrrtm1 A T 6: 77,243,652 M31L probably benign Het
Macf1 T C 4: 123,432,902 N2815S probably damaging Het
Man1c1 A G 4: 134,702,952 I173T possibly damaging Het
Man2b2 A G 5: 36,820,986 I318T probably benign Het
Mib1 T A 18: 10,752,033 probably benign Het
Myo10 T A 15: 25,795,717 S1315T probably damaging Het
Nsun5 C T 5: 135,375,463 Q375* probably null Het
Olfr1032 T C 2: 86,008,013 M79T probably damaging Het
Olfr792 T A 10: 129,540,615 F26Y probably damaging Het
Olfr984 A T 9: 40,100,743 I249K probably benign Het
Opcml A G 9: 27,791,386 M1V probably null Het
Parm1 T C 5: 91,594,469 I232T possibly damaging Het
Pdss1 T A 2: 22,906,787 probably null Het
Pfkfb2 G A 1: 130,705,410 T202I possibly damaging Het
Postn T A 3: 54,370,310 F242Y probably damaging Het
Prss12 A G 3: 123,486,976 T437A probably benign Het
Rap1gap2 C A 11: 74,407,322 A491S possibly damaging Het
Saraf A G 8: 34,168,581 N346D probably benign Het
Sec31b T C 19: 44,536,179 D93G probably damaging Het
Sgcg A T 14: 61,229,625 F175L probably damaging Het
Sh3rf2 A G 18: 42,149,724 D449G probably benign Het
Slc9a3 T C 13: 74,121,669 I52T possibly damaging Het
Tcf7 A T 11: 52,282,783 probably null Het
Tlr1 A G 5: 64,925,908 V442A probably damaging Het
Tmub1 A G 5: 24,445,924 *261Q probably null Het
Uck1 GCCAACACC GCC 2: 32,256,076 probably benign Het
Utp4 A G 8: 106,922,929 D670G probably damaging Het
Vamp5 A G 6: 72,369,340 V91A probably benign Het
Vmn1r35 A T 6: 66,678,966 M73K possibly damaging Het
Vmn2r12 C T 5: 109,091,531 E389K probably damaging Het
Wdsub1 T C 2: 59,873,286 T112A possibly damaging Het
Xpo4 G T 14: 57,604,440 Q473K probably benign Het
Xpo7 A G 14: 70,671,690 I797T probably damaging Het
Zfp808 G A 13: 62,171,218 V67M probably benign Het
Other mutations in Rbm10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00574:Rbm10 APN X 20650692 unclassified probably benign
IGL00574:Rbm10 APN X 20650693 unclassified probably benign
R0374:Rbm10 UTSW X 20637559 small deletion probably benign
R0762:Rbm10 UTSW X 20637664 splice site probably benign
R0763:Rbm10 UTSW X 20637664 splice site probably benign
R1489:Rbm10 UTSW X 20637664 splice site probably benign
R1616:Rbm10 UTSW X 20645991 missense probably benign
R2255:Rbm10 UTSW X 20635739 missense unknown
R2937:Rbm10 UTSW X 20647695 missense possibly damaging 0.67
Predicted Primers PCR Primer
(F):5'- TGGCATGACTGGGACCAAAG -3'
(R):5'- GTATGACTGCTCATGGGTCACAG -3'

Sequencing Primer
(F):5'- TGGAACAGGTGAGCCTCATACTC -3'
(R):5'- CTGCTCATGGGTCACAGAAGGG -3'
Posted On2014-12-29