Incidental Mutation 'R6696:Mns1'
ID 528589
Institutional Source Beutler Lab
Gene Symbol Mns1
Ensembl Gene ENSMUSG00000032221
Gene Name meiosis-specific nuclear structural protein 1
Synonyms
MMRRC Submission 044814-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.145) question?
Stock # R6696 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 72345276-72366036 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 72360044 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 398 (R398Q)
Ref Sequence ENSEMBL: ENSMUSP00000034746 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034746] [ENSMUST00000183809] [ENSMUST00000184312] [ENSMUST00000184604]
AlphaFold Q61884
Predicted Effect probably damaging
Transcript: ENSMUST00000034746
AA Change: R398Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034746
Gene: ENSMUSG00000032221
AA Change: R398Q

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.0%
Validation Efficiency 100% (48/48)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap25 G T 6: 87,442,633 (GRCm39) H350Q probably damaging Het
Arhgap25 C A 6: 87,443,545 (GRCm39) V305F probably damaging Het
Atg3 A T 16: 44,995,644 (GRCm39) I126F possibly damaging Het
Best2 A T 8: 85,737,873 (GRCm39) L174* probably null Het
Ccdc134 T A 15: 82,015,722 (GRCm39) D67E probably damaging Het
Coasy G T 11: 100,973,927 (GRCm39) R31L possibly damaging Het
Col5a3 C T 9: 20,690,329 (GRCm39) G1162R probably damaging Het
Dhrs7l C T 12: 72,666,255 (GRCm39) A139T possibly damaging Het
Eipr1 C A 12: 28,909,357 (GRCm39) T208N probably benign Het
Epha2 A G 4: 141,048,850 (GRCm39) T606A probably benign Het
Fan1 A T 7: 63,999,826 (GRCm39) I853N probably damaging Het
Fbxw18 A C 9: 109,517,832 (GRCm39) S385A probably benign Het
Galnt11 T C 5: 25,460,112 (GRCm39) V307A probably benign Het
Gata3 A T 2: 9,879,303 (GRCm39) Y224* probably null Het
Gm527 T C 12: 64,967,866 (GRCm39) M96T possibly damaging Het
Hivep2 T C 10: 14,009,503 (GRCm39) F1720S probably benign Het
Hltf T G 3: 20,119,470 (GRCm39) probably null Het
Imp4 T C 1: 34,483,327 (GRCm39) V247A probably benign Het
Iqca1 G A 1: 90,057,922 (GRCm39) T259I probably benign Het
Klra6 A G 6: 129,993,696 (GRCm39) F192L probably benign Het
Lnp1 T C 16: 56,748,149 (GRCm39) K48E possibly damaging Het
Lrp4 A G 2: 91,327,690 (GRCm39) D1513G probably benign Het
Lrrc25 G A 8: 71,071,015 (GRCm39) probably null Het
Macf1 T A 4: 123,403,596 (GRCm39) Y590F probably damaging Het
Mms19 C A 19: 41,942,452 (GRCm39) V359L probably benign Het
Myo1c C T 11: 75,562,461 (GRCm39) P918S probably benign Het
Nme3 G T 17: 25,116,268 (GRCm39) C158F possibly damaging Het
Pam T A 1: 97,813,452 (GRCm39) H326L possibly damaging Het
Plcxd1 A G 5: 110,249,751 (GRCm39) N151S possibly damaging Het
Prep A T 10: 45,029,174 (GRCm39) N525Y probably damaging Het
Rab11fip5 T C 6: 85,318,928 (GRCm39) I654V possibly damaging Het
Sbf2 T A 7: 110,159,505 (GRCm39) Q35L probably benign Het
Shcbp1 A G 8: 4,789,262 (GRCm39) F519S probably damaging Het
Slc18a3 T C 14: 32,186,270 (GRCm39) I38V possibly damaging Het
Slc5a2 A T 7: 127,869,215 (GRCm39) I332F probably damaging Het
Slc7a7 C T 14: 54,615,218 (GRCm39) probably null Het
Srbd1 C T 17: 86,446,619 (GRCm39) V47I possibly damaging Het
Synj1 C G 16: 90,757,340 (GRCm39) V877L probably damaging Het
Tgfbr3 C T 5: 107,284,796 (GRCm39) V618I probably benign Het
Tmem191 C T 16: 17,100,886 (GRCm39) probably null Het
Tmem67 C A 4: 12,061,754 (GRCm39) probably null Het
Tmem94 C T 11: 115,682,814 (GRCm39) A617V probably damaging Het
Vmn1r71 T A 7: 10,482,401 (GRCm39) I96F probably damaging Het
Vmn2r7 A T 3: 64,614,495 (GRCm39) F440I probably benign Het
Wdr7 A G 18: 63,872,401 (GRCm39) Q445R probably benign Het
Wnk1 A G 6: 119,925,243 (GRCm39) L1407P 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
R0512:Mns1 UTSW 9 72,356,753 (GRCm39) missense possibly damaging 0.87
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
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'- ACGTAACTCTAGCCCCACTG -3'
(R):5'- TACACACTAGGGTGCACATG -3'

Sequencing Primer
(F):5'- GTAACTCTAGCCCCACTGTCGTG -3'
(R):5'- ATGTGCACACTCAAGCTCTC -3'
Posted On 2018-07-24