Incidental Mutation 'R2120:Mov10l1'
ID 231410
Institutional Source Beutler Lab
Gene Symbol Mov10l1
Ensembl Gene ENSMUSG00000015365
Gene Name Mov10 like RISC complex RNA helicase 1
Synonyms CHAMP, Csm
MMRRC Submission 040124-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.197) question?
Stock # R2120 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 88867112-88939355 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 88891830 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 562 (Q562K)
Ref Sequence ENSEMBL: ENSMUSP00000015509 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015509] [ENSMUST00000146993]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000015509
AA Change: Q562K

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000015509
Gene: ENSMUSG00000015365
AA Change: Q562K

DomainStartEndE-ValueType
low complexity region 52 65 N/A INTRINSIC
low complexity region 338 349 N/A INTRINSIC
Blast:AAA 444 526 2e-7 BLAST
internal_repeat_1 615 651 5.23e-10 PROSPERO
internal_repeat_1 648 696 5.23e-10 PROSPERO
Pfam:AAA_11 746 852 1.4e-17 PFAM
Pfam:AAA_30 746 933 5e-11 PFAM
Pfam:AAA_19 754 826 1.5e-10 PFAM
Pfam:AAA_11 855 928 1.3e-18 PFAM
Pfam:AAA_12 935 1152 3.7e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000146993
AA Change: Q614K

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000118437
Gene: ENSMUSG00000015365
AA Change: Q614K

DomainStartEndE-ValueType
low complexity region 104 117 N/A INTRINSIC
low complexity region 390 401 N/A INTRINSIC
Blast:AAA 496 578 2e-7 BLAST
internal_repeat_1 667 703 6.08e-10 PROSPERO
internal_repeat_1 700 748 6.08e-10 PROSPERO
Pfam:AAA_11 798 903 1e-15 PFAM
Pfam:AAA_30 798 985 1.8e-11 PFAM
Pfam:AAA_19 806 878 7e-11 PFAM
Pfam:AAA_11 907 980 3.2e-17 PFAM
Pfam:AAA_12 987 1204 1.4e-43 PFAM
Meta Mutation Damage Score 0.0733 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 100% (86/86)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is similar to a mouse gene that encodes a putative RNA helicase and shows testis-specific expression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]
PHENOTYPE: Mice homozygous for a targeted allele lacking the helicase domain exhibit male infertility due to meiotic arrest, apoptosis, and derepression of retrotransposons in male germ cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,259,013 (GRCm39) probably benign Het
Abcg5 T A 17: 84,978,575 (GRCm39) E294D probably benign Het
Actrt2 C T 4: 154,751,551 (GRCm39) R195Q probably benign Het
Adamts12 C T 15: 11,310,665 (GRCm39) T974I probably damaging Het
Ankrd65 A G 4: 155,876,530 (GRCm39) T239A probably benign Het
Ano7 G T 1: 93,329,855 (GRCm39) probably benign Het
Apc A T 18: 34,409,654 (GRCm39) E198V probably damaging Het
Arhgef10 A G 8: 14,984,820 (GRCm39) D200G probably damaging Het
Atp9a A T 2: 168,495,457 (GRCm39) V583E probably damaging Het
Bicral C T 17: 47,135,741 (GRCm39) A490T probably benign Het
C1rl C T 6: 124,485,672 (GRCm39) P348S probably damaging Het
Cog1 T C 11: 113,540,424 (GRCm39) L13P probably damaging Het
Cx3cr1 T A 9: 119,880,749 (GRCm39) T218S probably damaging Het
Cyp2a12 A G 7: 26,736,071 (GRCm39) *493W probably null Het
Dmd G C X: 83,356,089 (GRCm39) A2257P probably benign Het
E2f4 A G 8: 106,026,973 (GRCm39) Y179C probably damaging Het
Ecel1 A G 1: 87,075,997 (GRCm39) S727P probably damaging Het
Endod1 T C 9: 14,268,949 (GRCm39) N179D probably benign Het
Epc2 C T 2: 49,437,621 (GRCm39) probably benign Het
Ets2 G T 16: 95,519,977 (GRCm39) R401L probably benign Het
Fgd4 C T 16: 16,243,692 (GRCm39) C614Y probably benign Het
Fgf18 A C 11: 33,068,003 (GRCm39) F129C probably damaging Het
Frem3 A T 8: 81,342,086 (GRCm39) T1460S probably benign Het
H2-M1 T G 17: 36,980,929 (GRCm39) T336P possibly damaging Het
Ikbkb T C 8: 23,157,233 (GRCm39) probably benign Het
Ipo7 G T 7: 109,648,838 (GRCm39) D704Y probably damaging Het
Jaml T A 9: 45,012,362 (GRCm39) I283N probably damaging Het
Jarid2 G T 13: 45,059,812 (GRCm39) M681I probably benign Het
Kif4-ps T C 12: 101,113,956 (GRCm39) L695P probably damaging Het
Kmt2d A G 15: 98,737,410 (GRCm39) probably benign Het
Krt25 T C 11: 99,212,023 (GRCm39) T205A probably benign Het
Lif T C 11: 4,219,051 (GRCm39) V110A possibly damaging Het
Ltbp1 T A 17: 75,617,154 (GRCm39) V1031E possibly damaging Het
Ltbr A G 6: 125,286,440 (GRCm39) S249P probably benign Het
Man2b1 A G 8: 85,819,653 (GRCm39) probably benign Het
Med16 A T 10: 79,738,916 (GRCm39) M290K possibly damaging Het
Msantd2 C T 9: 37,434,227 (GRCm39) R357W probably damaging Het
Mtcl2 T C 2: 156,875,245 (GRCm39) E835G probably damaging Het
Mtmr6 T C 14: 60,534,108 (GRCm39) F449L probably damaging Het
Myt1l A T 12: 29,833,618 (GRCm39) probably null Het
Neb A G 2: 52,154,076 (GRCm39) F2345S probably damaging Het
Nlrp6 T C 7: 140,506,357 (GRCm39) V766A probably benign Het
Or11g27 T C 14: 50,771,403 (GRCm39) I178T probably damaging Het
Or4k36 A G 2: 111,145,844 (GRCm39) T7A probably benign Het
Or6d13 A T 6: 116,517,416 (GRCm39) M1L probably null Het
Or8k22 G A 2: 86,163,689 (GRCm39) R4C probably benign Het
Patj T A 4: 98,344,462 (GRCm39) D591E probably benign Het
Pde6d A G 1: 86,473,524 (GRCm39) F91L probably benign Het
Pitpnm2 G A 5: 124,265,332 (GRCm39) P757L probably damaging Het
Plcd4 A G 1: 74,603,584 (GRCm39) T662A probably benign Het
Podn C T 4: 107,880,558 (GRCm39) A31T probably damaging Het
Prss37 G A 6: 40,492,294 (GRCm39) R186* probably null Het
Psg20 T A 7: 18,414,947 (GRCm39) Y316F probably benign Het
Psmd1 T A 1: 86,006,422 (GRCm39) S263T possibly damaging Het
Pum1 C A 4: 130,396,581 (GRCm39) T112K possibly damaging Het
Rab3gap2 A T 1: 184,993,564 (GRCm39) D782V possibly damaging Het
Rasgrp2 T A 19: 6,454,425 (GRCm39) M156K probably benign Het
Reln G A 5: 22,174,083 (GRCm39) H2007Y probably damaging Het
Rhbdl2 T A 4: 123,718,712 (GRCm39) I222K probably damaging Het
Rimbp2 A G 5: 128,865,582 (GRCm39) S582P probably damaging Het
Rpe T C 1: 66,754,387 (GRCm39) M153T probably damaging Het
Sars1 T C 3: 108,341,472 (GRCm39) I114V probably benign Het
Scamp5 C A 9: 57,354,508 (GRCm39) V49F possibly damaging Het
Sec14l1 C T 11: 117,039,358 (GRCm39) probably benign Het
Serpinb8 A G 1: 107,533,617 (GRCm39) E224G probably damaging Het
Setd2 A G 9: 110,378,932 (GRCm39) S632G probably benign Het
Slco6c1 C T 1: 96,993,808 (GRCm39) R645H possibly damaging Het
Srgn T A 10: 62,343,413 (GRCm39) probably benign Het
Stk40 C T 4: 126,022,640 (GRCm39) T138I probably benign Het
Syt10 C T 15: 89,674,979 (GRCm39) D456N probably damaging Het
Tada3 T C 6: 113,347,976 (GRCm39) I263V possibly damaging Het
Tas2r106 A T 6: 131,655,317 (GRCm39) L178H probably damaging Het
Tas2r115 T A 6: 132,714,470 (GRCm39) R160S possibly damaging Het
Trak1 T A 9: 121,302,063 (GRCm39) *940R probably null Het
Trp53bp2 A G 1: 182,269,204 (GRCm39) M223V probably benign Het
Ttc21b C T 2: 66,057,098 (GRCm39) V625I probably benign Het
Txnrd1 T A 10: 82,723,067 (GRCm39) C421S possibly damaging Het
Unc45a T C 7: 79,989,846 (GRCm39) T8A probably benign Het
Usp6nl T A 2: 6,445,748 (GRCm39) V552E probably damaging Het
Vmn2r115 T G 17: 23,578,297 (GRCm39) L590R probably damaging Het
Vmn2r88 A T 14: 51,650,665 (GRCm39) H126L probably benign Het
Vps13c A G 9: 67,826,616 (GRCm39) D1419G possibly damaging Het
Vwa3a A G 7: 120,391,641 (GRCm39) T776A probably benign Het
Zfp580 T C 7: 5,056,008 (GRCm39) Y123H probably damaging Het
Other mutations in Mov10l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00955:Mov10l1 APN 15 88,879,192 (GRCm39) missense probably damaging 1.00
IGL01110:Mov10l1 APN 15 88,905,460 (GRCm39) missense probably benign 0.05
IGL01369:Mov10l1 APN 15 88,909,040 (GRCm39) splice site probably benign
IGL01531:Mov10l1 APN 15 88,938,555 (GRCm39) missense probably damaging 0.99
IGL01712:Mov10l1 APN 15 88,908,969 (GRCm39) missense probably damaging 0.98
IGL02330:Mov10l1 APN 15 88,910,693 (GRCm39) missense probably damaging 1.00
IGL02540:Mov10l1 APN 15 88,902,414 (GRCm39) missense probably benign
IGL02938:Mov10l1 APN 15 88,872,729 (GRCm39) missense probably damaging 1.00
R0382:Mov10l1 UTSW 15 88,869,796 (GRCm39) missense possibly damaging 0.96
R0437:Mov10l1 UTSW 15 88,889,515 (GRCm39) missense probably damaging 0.96
R0504:Mov10l1 UTSW 15 88,883,042 (GRCm39) missense probably damaging 1.00
R0538:Mov10l1 UTSW 15 88,879,063 (GRCm39) missense possibly damaging 0.73
R0577:Mov10l1 UTSW 15 88,889,930 (GRCm39) missense probably damaging 1.00
R0592:Mov10l1 UTSW 15 88,882,969 (GRCm39) critical splice acceptor site probably null
R0972:Mov10l1 UTSW 15 88,905,482 (GRCm39) missense probably damaging 0.99
R1386:Mov10l1 UTSW 15 88,895,589 (GRCm39) missense possibly damaging 0.87
R1737:Mov10l1 UTSW 15 88,895,607 (GRCm39) missense possibly damaging 0.79
R3740:Mov10l1 UTSW 15 88,896,345 (GRCm39) missense possibly damaging 0.92
R3741:Mov10l1 UTSW 15 88,896,345 (GRCm39) missense possibly damaging 0.92
R3846:Mov10l1 UTSW 15 88,896,345 (GRCm39) missense possibly damaging 0.92
R3850:Mov10l1 UTSW 15 88,889,898 (GRCm39) critical splice acceptor site probably null
R3964:Mov10l1 UTSW 15 88,896,366 (GRCm39) missense probably benign 0.00
R3965:Mov10l1 UTSW 15 88,896,366 (GRCm39) missense probably benign 0.00
R4049:Mov10l1 UTSW 15 88,879,235 (GRCm39) splice site probably benign
R4836:Mov10l1 UTSW 15 88,904,472 (GRCm39) missense possibly damaging 0.47
R5233:Mov10l1 UTSW 15 88,867,235 (GRCm39) missense probably benign
R5466:Mov10l1 UTSW 15 88,869,904 (GRCm39) critical splice donor site probably null
R5552:Mov10l1 UTSW 15 88,938,569 (GRCm39) critical splice donor site probably null
R5780:Mov10l1 UTSW 15 88,896,181 (GRCm39) missense probably benign
R6275:Mov10l1 UTSW 15 88,910,823 (GRCm39) missense probably damaging 0.99
R6326:Mov10l1 UTSW 15 88,879,098 (GRCm39) missense probably damaging 1.00
R6652:Mov10l1 UTSW 15 88,878,105 (GRCm39) missense probably damaging 1.00
R6793:Mov10l1 UTSW 15 88,880,387 (GRCm39) missense possibly damaging 0.86
R7278:Mov10l1 UTSW 15 88,878,071 (GRCm39) missense probably benign 0.18
R7733:Mov10l1 UTSW 15 88,909,004 (GRCm39) missense probably damaging 0.99
R7998:Mov10l1 UTSW 15 88,937,642 (GRCm39) missense probably damaging 1.00
R8260:Mov10l1 UTSW 15 88,896,313 (GRCm39) missense probably benign
R8426:Mov10l1 UTSW 15 88,881,608 (GRCm39) critical splice donor site probably null
R8855:Mov10l1 UTSW 15 88,896,169 (GRCm39) missense probably benign 0.13
R8866:Mov10l1 UTSW 15 88,896,169 (GRCm39) missense probably benign 0.13
R9154:Mov10l1 UTSW 15 88,896,118 (GRCm39) missense possibly damaging 0.72
R9164:Mov10l1 UTSW 15 88,896,361 (GRCm39) missense probably benign 0.00
R9194:Mov10l1 UTSW 15 88,931,023 (GRCm39) missense probably damaging 1.00
R9353:Mov10l1 UTSW 15 88,872,622 (GRCm39) missense possibly damaging 0.70
R9470:Mov10l1 UTSW 15 88,904,518 (GRCm39) missense probably damaging 1.00
Z1177:Mov10l1 UTSW 15 88,937,614 (GRCm39) missense probably damaging 0.99
Z1177:Mov10l1 UTSW 15 88,902,371 (GRCm39) missense probably damaging 0.99
Z1177:Mov10l1 UTSW 15 88,880,339 (GRCm39) missense probably benign 0.36
Predicted Primers PCR Primer
(F):5'- TCAGTGTACGTGTCACAGGG -3'
(R):5'- TCATCTACAGAGTACAGCATGGC -3'

Sequencing Primer
(F):5'- GAGACATCCTCCTGTTTGTATAGC -3'
(R):5'- GAGTACAGCATGGCTAATATACCATC -3'
Posted On 2014-09-18