Incidental Mutation 'R8426:Mov10l1'
ID 653492
Institutional Source Beutler Lab
Gene Symbol Mov10l1
Ensembl Gene ENSMUSG00000015365
Gene Name Mov10 like RISC complex RNA helicase 1
Synonyms CHAMP, Csm
MMRRC Submission 067820-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.197) question?
Stock # R8426 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 88867112-88939355 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 88881608 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000118437 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015509] [ENSMUST00000146993]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000015509
SMART Domains Protein: ENSMUSP00000015509
Gene: ENSMUSG00000015365

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 null
Transcript: ENSMUST00000146993
SMART Domains Protein: ENSMUSP00000118437
Gene: ENSMUSG00000015365

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T C 2: 69,155,606 (GRCm39) H32R probably benign Het
Abcb1b T C 5: 8,911,632 (GRCm39) probably null Het
Aicda A T 6: 122,538,150 (GRCm39) N103Y probably damaging Het
Bsn T C 9: 108,003,772 (GRCm39) E211G probably damaging Het
Casp9 T C 4: 141,540,936 (GRCm39) Y435H probably damaging Het
Catsper2 TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT 2: 121,228,053 (GRCm39) probably benign Het
Ceacam5 T C 7: 17,493,266 (GRCm39) V763A possibly damaging Het
Cxcr6 A G 9: 123,639,071 (GRCm39) N31S probably benign Het
Elapor1 G A 3: 108,378,742 (GRCm39) A352V probably damaging Het
Gm17728 A G 17: 9,641,231 (GRCm39) T114A probably benign Het
Gnao1 A T 8: 94,622,857 (GRCm39) probably null Het
Iffo2 A T 4: 139,342,291 (GRCm39) Y451F probably damaging Het
Ints4 G A 7: 97,150,239 (GRCm39) W258* probably null Het
Ipo11 T C 13: 106,978,678 (GRCm39) D834G possibly damaging Het
Kif5a T C 10: 127,067,358 (GRCm39) D853G probably damaging Het
Lama4 A G 10: 38,979,487 (GRCm39) E1655G probably damaging Het
Lepr G A 4: 101,671,841 (GRCm39) S955N probably benign Het
Lrp1b T C 2: 41,388,318 (GRCm39) I550V Het
Mroh9 A T 1: 162,852,294 (GRCm39) D798E probably damaging Het
Myo10 A G 15: 25,799,576 (GRCm39) I1380V probably damaging Het
Neu2 C T 1: 87,524,387 (GRCm39) S124L probably damaging Het
Nol6 T C 4: 41,119,870 (GRCm39) I543V probably benign Het
Nrxn3 G A 12: 88,762,097 (GRCm39) R48H possibly damaging Het
Ogn C T 13: 49,774,567 (GRCm39) R237C possibly damaging Het
Or10aa3 T C 1: 173,878,146 (GRCm39) L69P probably damaging Het
Or8b46 A T 9: 38,450,620 (GRCm39) Y143F probably damaging Het
Phf24 C T 4: 42,933,785 (GRCm39) Q19* probably null Het
Plat G T 8: 23,262,248 (GRCm39) G91W probably damaging Het
Plscr4 C T 9: 92,372,843 (GRCm39) R322* probably null Het
Ptch2 G T 4: 116,965,369 (GRCm39) S318I possibly damaging Het
Sart1 A G 19: 5,433,769 (GRCm39) M356T probably benign Het
Slit2 A G 5: 48,382,105 (GRCm39) N529D probably benign Het
Smchd1 A C 17: 71,755,598 (GRCm39) D261E probably damaging Het
Tcerg1 G A 18: 42,681,466 (GRCm39) V538I possibly damaging Het
Thada A T 17: 84,530,131 (GRCm39) M1746K probably benign Het
Thsd1 A G 8: 22,733,654 (GRCm39) I234V probably benign Het
Tm9sf4 G A 2: 153,045,736 (GRCm39) G536D probably damaging Het
Tmprss11c G T 5: 86,379,677 (GRCm39) N410K probably damaging Het
Ttc28 G A 5: 111,381,207 (GRCm39) D1240N probably benign Het
Unc5d G T 8: 29,210,016 (GRCm39) S440Y probably damaging Het
Vmn1r44 A G 6: 89,870,470 (GRCm39) D72G probably benign Het
Vmn1r68 T C 7: 10,261,382 (GRCm39) N239D probably benign Het
Vmn2r107 T A 17: 20,577,239 (GRCm39) H412Q possibly 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
R2120:Mov10l1 UTSW 15 88,891,830 (GRCm39) missense probably benign 0.30
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
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'- GTGAGCGTTCTTTCCCAACAC -3'
(R):5'- GCTGAAGGTAAGAGTGGATTCC -3'

Sequencing Primer
(F):5'- ACTTTTAGGAATAAGTTACCTTCCCC -3'
(R):5'- AGAGGTCCCGAGTTCAATTCC -3'
Posted On 2020-10-20