Incidental Mutation 'R5466:Mov10l1'
ID 433256
Institutional Source Beutler Lab
Gene Symbol Mov10l1
Ensembl Gene ENSMUSG00000015365
Gene Name Mov10 like RISC complex RNA helicase 1
Synonyms CHAMP, Csm
MMRRC Submission 043027-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.197) question?
Stock # R5466 (G1)
Quality Score 190
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 C at 88869904 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000118437 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015509] [ENSMUST00000015509] [ENSMUST00000146993] [ENSMUST00000146993]
AlphaFold no structure available at present
Predicted Effect probably null
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: 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
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156949
Coding Region Coverage
  • 1x: 98.2%
  • 3x: 97.3%
  • 10x: 95.1%
  • 20x: 90.5%
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik C A 2: 68,541,733 (GRCm39) A17E probably benign Het
Actc1 T C 2: 113,880,979 (GRCm39) D82G probably damaging Het
Aox1 G C 1: 58,080,619 (GRCm39) E23Q probably damaging Het
Arap3 A G 18: 38,129,789 (GRCm39) V124A probably benign Het
Armc5 A G 7: 127,839,336 (GRCm39) N218S probably damaging Het
Cacna2d1 T A 5: 16,451,712 (GRCm39) V192E probably damaging Het
Col6a5 T A 9: 105,808,282 (GRCm39) E922V unknown Het
Dennd4b G A 3: 90,175,807 (GRCm39) probably null Het
Dnah12 A G 14: 26,493,007 (GRCm39) D1256G probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Dpy19l1 T C 9: 24,325,684 (GRCm39) E707G probably damaging Het
Farp1 C T 14: 121,472,489 (GRCm39) P208L probably damaging Het
Fgf11 T C 11: 69,690,267 (GRCm39) I107V probably damaging Het
Fuca2 C T 10: 13,388,441 (GRCm39) Q406* probably null Het
Gm10428 A G 11: 62,643,932 (GRCm39) probably benign Het
Gm17430 A G 18: 9,726,228 (GRCm39) V148A probably benign Het
Gm5930 A T 14: 44,575,014 (GRCm39) N57K probably damaging Het
Gucy2c T A 6: 136,758,463 (GRCm39) K48* probably null Het
Ip6k2 C T 9: 108,675,661 (GRCm39) R109C probably damaging Het
Kif21b T A 1: 136,075,263 (GRCm39) F159I probably damaging Het
Macf1 A T 4: 123,346,658 (GRCm39) S1981T possibly damaging Het
Mga T A 2: 119,733,178 (GRCm39) L9M probably damaging Het
Msrb1 A T 17: 24,958,533 (GRCm39) H39L possibly damaging Het
Or4c117 A T 2: 88,955,477 (GRCm39) F199L probably benign Het
Or6b1 A T 6: 42,815,027 (GRCm39) T71S probably benign Het
Pcdha1 G A 18: 37,065,312 (GRCm39) A659T possibly damaging Het
Pcm1 T A 8: 41,725,499 (GRCm39) probably null Het
Rfpl4b C A 10: 38,697,394 (GRCm39) C69F probably damaging Het
Tnn G A 1: 159,948,106 (GRCm39) T869I possibly damaging Het
Trp53i11 C A 2: 93,029,728 (GRCm39) L121I possibly damaging Het
Uimc1 A G 13: 55,223,661 (GRCm39) S204P probably damaging Het
Usp43 A T 11: 67,804,709 (GRCm39) N169K probably damaging Het
Vldlr A G 19: 27,217,243 (GRCm39) probably null Het
Vmn2r115 A G 17: 23,579,030 (GRCm39) I834M probably damaging Het
Zbtb21 A G 16: 97,751,698 (GRCm39) S690P possibly damaging Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L 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
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
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'- ACACCAGGTTGAAAACGGTG -3'
(R):5'- TACGCCATAGCATAAACTTATAGGGAG -3'

Sequencing Primer
(F):5'- TGCAGGGCGTTGTGACAAG -3'
(R):5'- AGGGAGACTTTACTTTTTGAATTCC -3'
Posted On 2016-10-06