Incidental Mutation 'R0512:Mns1'
ID 47915
Institutional Source Beutler Lab
Gene Symbol Mns1
Ensembl Gene ENSMUSG00000032221
Gene Name meiosis-specific nuclear structural protein 1
Synonyms
MMRRC Submission 038706-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.145) question?
Stock # R0512 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 72345276-72366036 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 72356753 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 308 (E308G)
Ref Sequence ENSEMBL: ENSMUSP00000034746 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034746] [ENSMUST00000183809] [ENSMUST00000184312] [ENSMUST00000184604]
AlphaFold Q61884
Predicted Effect possibly damaging
Transcript: ENSMUST00000034746
AA Change: E308G

PolyPhen 2 Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000034746
Gene: ENSMUSG00000032221
AA Change: E308G

DomainStartEndE-ValueType
Pfam:TPH 117 462 3.1e-76 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000183809
SMART Domains Protein: ENSMUSP00000139105
Gene: ENSMUSG00000032221

DomainStartEndE-ValueType
Pfam:Trichoplein 116 219 5.1e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000184312
SMART Domains Protein: ENSMUSP00000138844
Gene: ENSMUSG00000090626

DomainStartEndE-ValueType
coiled coil region 23 63 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000184604
SMART Domains Protein: ENSMUSP00000139232
Gene: ENSMUSG00000032221

DomainStartEndE-ValueType
Pfam:Trichoplein 116 158 8e-12 PFAM
Pfam:Trichoplein 150 206 1.4e-9 PFAM
Meta Mutation Damage Score 0.0606 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.8%
Validation Efficiency 100% (92/92)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein highly similar to the mouse meiosis-specific nuclear structural 1 protein. The mouse protein was shown to be expressed at the pachytene stage during spermatogenesis and may function as a nuclear skeletal protein to regulate nuclear morphology during meiosis. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a null mutation display partial lethality, male infertility, sperm flagellum abnormalities, immotile sperm, randomized left-right patterning, hydroencephaly, and motile cilia abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930519G04Rik T G 5: 115,001,569 (GRCm39) M22R probably benign Het
Abca8b C A 11: 109,841,476 (GRCm39) M1039I probably benign Het
Actn2 A T 13: 12,292,301 (GRCm39) I653N probably damaging Het
Actr8 G T 14: 29,700,513 (GRCm39) V31L probably benign Het
Adam30 T C 3: 98,069,441 (GRCm39) C425R probably damaging Het
Armc1 A G 3: 19,203,659 (GRCm39) V89A possibly damaging Het
Atr T C 9: 95,817,579 (GRCm39) M2090T probably damaging Het
Braf T A 6: 39,641,923 (GRCm39) probably benign Het
Cant1 A T 11: 118,302,091 (GRCm39) N75K probably benign Het
Chd7 C T 4: 8,805,139 (GRCm39) probably benign Het
Clec16a A G 16: 10,432,444 (GRCm39) Y488C probably damaging Het
Col6a3 A T 1: 90,749,520 (GRCm39) probably benign Het
Col9a2 T A 4: 120,911,504 (GRCm39) M615K probably benign Het
Dedd G A 1: 171,168,498 (GRCm39) R228H probably damaging Het
Dhtkd1 C T 2: 5,908,902 (GRCm39) D731N probably damaging Het
Ercc2 A G 7: 19,127,812 (GRCm39) T651A probably damaging Het
Fam13a T A 6: 58,933,684 (GRCm39) D302V probably damaging Het
Fam193a T C 5: 34,583,735 (GRCm39) S19P probably damaging Het
Fam43a T C 16: 30,420,553 (GRCm39) V379A possibly damaging Het
Fat1 C A 8: 45,404,369 (GRCm39) Y373* probably null Het
Fbxl15 A C 19: 46,317,861 (GRCm39) D181A probably damaging Het
Flt3 A T 5: 147,278,080 (GRCm39) C831* probably null Het
Foxj3 T A 4: 119,443,033 (GRCm39) probably benign Het
Glul T C 1: 153,781,132 (GRCm39) probably benign Het
Gm16380 A T 9: 53,791,529 (GRCm39) noncoding transcript Het
Gm7964 A T 7: 83,405,158 (GRCm39) noncoding transcript Het
Hipk1 A G 3: 103,667,890 (GRCm39) F559S possibly damaging Het
Hnf4g A T 3: 3,716,682 (GRCm39) I284F probably damaging Het
Hoxa13 CCG CCGCG 6: 52,237,618 (GRCm39) probably null Het
Icosl A G 10: 77,907,800 (GRCm39) N120S possibly damaging Het
Ift172 A G 5: 31,442,821 (GRCm39) V155A possibly damaging Het
Kdm4c A G 4: 74,252,031 (GRCm39) E426G probably benign Het
Kif23 A G 9: 61,826,257 (GRCm39) probably benign Het
Krt81 C A 15: 101,361,508 (GRCm39) R24L possibly damaging Het
Lama1 G A 17: 68,086,129 (GRCm39) C1456Y possibly damaging Het
Lamc3 T A 2: 31,827,980 (GRCm39) L1378Q probably damaging Het
Larp1b T A 3: 40,924,469 (GRCm39) L121M probably benign Het
Lepr T A 4: 101,649,216 (GRCm39) D872E probably damaging Het
Lepr A C 4: 101,671,901 (GRCm39) D975A possibly damaging Het
Magi1 A G 6: 93,671,045 (GRCm39) V1068A probably damaging Het
Malt1 T A 18: 65,591,271 (GRCm39) N358K probably damaging Het
Mfap4 T A 11: 61,378,771 (GRCm39) W240R probably damaging Het
Mis18a A G 16: 90,523,244 (GRCm39) V84A possibly damaging Het
Mpp2 C A 11: 101,953,116 (GRCm39) L258F possibly damaging Het
Myh2 A G 11: 67,079,504 (GRCm39) E987G probably damaging Het
Myof A G 19: 37,942,972 (GRCm39) V702A possibly damaging Het
Nhs C A X: 160,620,355 (GRCm39) R1467I probably damaging Het
Nrxn2 A G 19: 6,567,228 (GRCm39) T1360A probably damaging Het
Obox6 A G 7: 15,567,874 (GRCm39) I191T probably benign Het
Pacs2 G T 12: 113,014,547 (GRCm39) R236L probably damaging Het
Pcdhb2 T G 18: 37,429,032 (GRCm39) V335G probably damaging Het
Phyhipl T C 10: 70,404,748 (GRCm39) I140M probably damaging Het
Pkhd1 T C 1: 20,380,738 (GRCm39) probably benign Het
Ppp1r3b T G 8: 35,851,571 (GRCm39) C137G probably damaging Het
Prdm13 T A 4: 21,678,490 (GRCm39) I667F probably damaging Het
Prex2 A G 1: 11,270,157 (GRCm39) M1281V probably benign Het
Rab40b A G 11: 121,250,412 (GRCm39) F81L probably damaging Het
Rb1cc1 T C 1: 6,318,767 (GRCm39) S729P probably damaging Het
Rcl1 A G 19: 29,105,497 (GRCm39) D228G probably damaging Het
Rhbdf1 A T 11: 32,160,875 (GRCm39) C19* probably null Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rnf150 G A 8: 83,590,807 (GRCm39) V57M probably benign Het
Rp9 A G 9: 22,370,015 (GRCm39) F51L probably benign Het
Sav1 A T 12: 70,015,975 (GRCm39) Y274* probably null Het
Scn4a A T 11: 106,236,503 (GRCm39) D252E probably damaging Het
Scn5a T C 9: 119,379,724 (GRCm39) T187A probably damaging Het
Sigirr T A 7: 140,672,333 (GRCm39) D229V probably benign Het
Slc39a13 T C 2: 90,896,031 (GRCm39) S157G possibly damaging Het
Slc6a20a A G 9: 123,489,471 (GRCm39) S191P probably damaging Het
Sorl1 C A 9: 41,979,128 (GRCm39) A457S probably benign Het
Spag5 A G 11: 78,210,412 (GRCm39) probably benign Het
Spon1 A G 7: 113,436,066 (GRCm39) E119G possibly damaging Het
Spred2 T A 11: 19,958,485 (GRCm39) probably benign Het
Sprr3 T G 3: 92,364,784 (GRCm39) Q20P possibly damaging Het
Strn3 A T 12: 51,673,966 (GRCm39) F464L possibly damaging Het
Sun1 A G 5: 139,220,602 (GRCm39) probably benign Het
Sypl2 A G 3: 108,133,486 (GRCm39) W28R possibly damaging Het
Syt5 A T 7: 4,545,813 (GRCm39) V150D probably damaging Het
Tasor T C 14: 27,168,363 (GRCm39) F302L probably damaging Het
Thsd7a A G 6: 12,379,604 (GRCm39) I940T possibly damaging Het
Tlcd3b C T 7: 126,426,795 (GRCm39) R73C probably damaging Het
Tnrc6a T A 7: 122,785,951 (GRCm39) probably benign Het
Trp53 T A 11: 69,479,509 (GRCm39) L203Q probably damaging Het
Tubgcp4 T C 2: 121,005,900 (GRCm39) V96A probably benign Het
Usp17la A G 7: 104,510,246 (GRCm39) T284A possibly damaging Het
Usp34 T C 11: 23,401,997 (GRCm39) M2409T probably benign Het
Vmn2r100 C A 17: 19,742,382 (GRCm39) P252Q possibly damaging Het
Vmn2r56 A G 7: 12,449,350 (GRCm39) I296T probably benign Het
Vmn2r67 A G 7: 84,799,900 (GRCm39) V446A probably damaging Het
Zfp217 C T 2: 169,957,382 (GRCm39) A539T probably benign Het
Zfp267 T C 3: 36,220,262 (GRCm39) C762R probably damaging Het
Other mutations in Mns1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01620:Mns1 APN 9 72,364,195 (GRCm39) unclassified probably benign
R0390:Mns1 UTSW 9 72,360,086 (GRCm39) missense probably damaging 1.00
R1803:Mns1 UTSW 9 72,360,016 (GRCm39) missense probably damaging 1.00
R1988:Mns1 UTSW 9 72,356,041 (GRCm39) splice site probably null
R3821:Mns1 UTSW 9 72,346,730 (GRCm39) missense probably damaging 1.00
R3822:Mns1 UTSW 9 72,346,730 (GRCm39) missense probably damaging 1.00
R4640:Mns1 UTSW 9 72,346,564 (GRCm39) missense probably benign 0.36
R6051:Mns1 UTSW 9 72,356,735 (GRCm39) missense probably damaging 1.00
R6696:Mns1 UTSW 9 72,360,044 (GRCm39) missense probably damaging 1.00
R6835:Mns1 UTSW 9 72,360,026 (GRCm39) missense probably damaging 1.00
R7257:Mns1 UTSW 9 72,360,097 (GRCm39) missense probably damaging 1.00
R7340:Mns1 UTSW 9 72,356,025 (GRCm39) missense probably damaging 1.00
R7903:Mns1 UTSW 9 72,360,093 (GRCm39) missense probably benign 0.04
R8068:Mns1 UTSW 9 72,355,809 (GRCm39) critical splice acceptor site probably null
R9275:Mns1 UTSW 9 72,356,507 (GRCm39) missense probably benign 0.01
R9450:Mns1 UTSW 9 72,359,890 (GRCm39) missense probably benign 0.10
R9786:Mns1 UTSW 9 72,346,556 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ACTCTGAACAGTCCGTGTTTGCC -3'
(R):5'- GACGTTGACACACAATGCAGCC -3'

Sequencing Primer
(F):5'- CTCCTGATTGCTTTTTAGGGAAAGAC -3'
(R):5'- AATGCAGCCGCCCTATG -3'
Posted On 2013-06-12