Incidental Mutation 'R5213:Msantd5f6'
ID 403248
Institutional Source Beutler Lab
Gene Symbol Msantd5f6
Ensembl Gene ENSMUSG00000066137
Gene Name Myb/SANT DNA binding domain containing 5 family member 6
Synonyms Gm11487
MMRRC Submission 042854-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.160) question?
Stock # R5213 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 73319269-73323309 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 73319571 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 302 (Q302K)
Ref Sequence ENSEMBL: ENSMUSP00000081520 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084480]
AlphaFold Q5RIS0
Predicted Effect probably damaging
Transcript: ENSMUST00000084480
AA Change: Q302K

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000081520
Gene: ENSMUSG00000066137
AA Change: Q302K

DomainStartEndE-ValueType
low complexity region 69 84 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000147434
AA Change: Q58K
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency
MGI Phenotype FUNCTION: This gene belongs to a family of related genes tandemly arranged in two clusters on chromosome 4. This family, which appears to be mouse-specific and composed of multiple highly similar members, is supported by limited transcript data. Members of the family maintain an intact open reading frame although the encoded protein has no known function. This gene is inferred from alignment of paralogous transcripts. [provided by RefSeq, Apr 2013]
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 C A 4: 86,303,865 (GRCm39) H1342N possibly damaging Het
Adcy2 G T 13: 68,768,942 (GRCm39) T1062K possibly damaging Het
Aqr T C 2: 113,943,808 (GRCm39) N1110S probably damaging Het
Atp10a C T 7: 58,423,731 (GRCm39) T232I probably damaging Het
Atp5pb T A 3: 105,863,227 (GRCm39) K70* probably null Het
Atp8b4 A C 2: 126,231,329 (GRCm39) probably null Het
Atraid A C 5: 31,209,552 (GRCm39) Q72P probably damaging Het
Atxn2 G T 5: 121,952,543 (GRCm39) probably null Het
Best3 A T 10: 116,860,377 (GRCm39) T546S probably benign Het
Brd3 T C 2: 27,353,960 (GRCm39) K51E possibly damaging Het
Brip1 A G 11: 86,034,147 (GRCm39) S525P possibly damaging Het
Cenpf A G 1: 189,387,177 (GRCm39) I1701T probably benign Het
Chrna9 A T 5: 66,128,427 (GRCm39) K208* probably null Het
Clec2l T A 6: 38,657,127 (GRCm39) C197S probably damaging Het
Crp A G 1: 172,526,086 (GRCm39) H57R probably benign Het
Cyp27b1 C A 10: 126,887,964 (GRCm39) T492N probably damaging Het
Dock4 A T 12: 40,726,741 (GRCm39) I340F probably damaging Het
Dsg1b A T 18: 20,528,987 (GRCm39) D241V probably damaging Het
Epg5 G T 18: 78,058,049 (GRCm39) V1865L probably benign Het
Erap1 A G 13: 74,819,614 (GRCm39) probably null Het
Fat2 C T 11: 55,144,658 (GRCm39) C4072Y probably benign Het
Fat4 T A 3: 39,034,340 (GRCm39) I2664N possibly damaging Het
Gabrp A G 11: 33,517,211 (GRCm39) probably null Het
Glis2 G T 16: 4,431,946 (GRCm39) probably benign Het
Gm17654 A G 14: 43,816,559 (GRCm39) S15P probably damaging Het
Gm21836 A G 9: 124,252,736 (GRCm39) V14A unknown Het
Gon7 G A 12: 102,720,380 (GRCm39) T84I possibly damaging Het
Greb1 G T 12: 16,764,791 (GRCm39) Y447* probably null Het
Grip2 A T 6: 91,756,812 (GRCm39) D546E probably benign Het
Hectd1 A G 12: 51,849,316 (GRCm39) probably null Het
Il36a T A 2: 24,114,486 (GRCm39) F120L probably damaging Het
Itga4 T C 2: 79,150,920 (GRCm39) V842A probably benign Het
Khsrp G A 17: 57,331,366 (GRCm39) A404V probably benign Het
Map3k11 T C 19: 5,740,669 (GRCm39) V132A probably damaging Het
Mcub A C 3: 129,710,646 (GRCm39) F262C probably benign Het
Mysm1 A T 4: 94,836,614 (GRCm39) V732E probably damaging Het
Npr2 T A 4: 43,640,673 (GRCm39) probably null Het
Or10d5 A C 9: 39,861,389 (GRCm39) I226S probably damaging Het
Or12d12 T C 17: 37,610,942 (GRCm39) I124V probably damaging Het
Or5k1b T C 16: 58,580,984 (GRCm39) Y185C probably damaging Het
Oxgr1 G T 14: 120,259,552 (GRCm39) Y218* probably null Het
Paf1 A G 7: 28,095,397 (GRCm39) Q161R possibly damaging Het
Pck1 A T 2: 172,997,878 (GRCm39) K316* probably null Het
Plac8 T A 5: 100,704,371 (GRCm39) M109L probably benign Het
Plagl2 A T 2: 153,074,239 (GRCm39) C221S probably damaging Het
Polg T C 7: 79,103,846 (GRCm39) D870G probably damaging Het
Polr2k T A 15: 36,175,143 (GRCm39) M1K probably null Het
Prdm9 T C 17: 15,775,416 (GRCm39) H276R probably damaging Het
Resf1 C A 6: 149,227,551 (GRCm39) P199Q possibly damaging Het
Rgs12 T A 5: 35,122,664 (GRCm39) I149N probably damaging Het
Serpina3i A G 12: 104,231,914 (GRCm39) I184V probably benign Het
Shank3 A G 15: 89,417,481 (GRCm39) E26G possibly damaging Het
Skil T C 3: 31,171,600 (GRCm39) S575P probably damaging Het
Slc13a1 A G 6: 24,108,158 (GRCm39) L306P probably damaging Het
Slc20a1 G T 2: 129,042,429 (GRCm39) W166L probably damaging Het
Slc45a2 C T 15: 11,027,871 (GRCm39) T480I probably damaging Het
Snrnp200 G T 2: 127,073,661 (GRCm39) G1353V probably damaging Het
Spata6l A T 19: 28,940,964 (GRCm39) V50E probably benign Het
Sphkap A G 1: 83,258,224 (GRCm39) I173T probably damaging Het
Stab2 A T 10: 86,743,061 (GRCm39) F1183I probably damaging Het
Stard9 A G 2: 120,529,707 (GRCm39) D1988G probably damaging Het
Tank T A 2: 61,480,292 (GRCm39) I276N probably benign Het
Tcaf3 A G 6: 42,568,401 (GRCm39) W652R probably damaging Het
Tgm2 G A 2: 157,984,980 (GRCm39) T42I possibly damaging Het
Tnni2 G T 7: 141,997,039 (GRCm39) probably null Het
Tns1 A G 1: 73,992,771 (GRCm39) S9P probably damaging Het
Tram1 T C 1: 13,649,966 (GRCm39) Y86C probably damaging Het
Trdv2-1 T C 14: 54,183,863 (GRCm39) S32P probably benign Het
Trim24 T C 6: 37,934,010 (GRCm39) I651T probably damaging Het
Trpm3 T G 19: 22,674,818 (GRCm39) Y72* probably null Het
Ube2o G A 11: 116,432,285 (GRCm39) P894S possibly damaging Het
Ubr4 C T 4: 139,129,877 (GRCm39) R666* probably null Het
Ugt1a8 T A 1: 88,015,845 (GRCm39) L86* probably null Het
Usp32 T A 11: 84,913,085 (GRCm39) N941I probably damaging Het
Utrn C T 10: 12,512,504 (GRCm39) V2322M probably damaging Het
Vmn1r184 A T 7: 25,967,136 (GRCm39) Y294F probably damaging Het
Vmn2r108 T C 17: 20,691,755 (GRCm39) N256S probably benign Het
Wdr7 T C 18: 63,888,197 (GRCm39) S557P probably damaging Het
Xrra1 C A 7: 99,547,690 (GRCm39) P293Q possibly damaging Het
Zc3h18 A G 8: 123,110,388 (GRCm39) D79G probably damaging Het
Zfp74 A T 7: 29,634,668 (GRCm39) Y347N probably damaging Het
Zfp740 T C 15: 102,121,082 (GRCm39) C169R possibly damaging Het
Other mutations in Msantd5f6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02373:Msantd5f6 APN 4 73,321,880 (GRCm39) missense probably benign 0.01
IGL03275:Msantd5f6 APN 4 73,321,653 (GRCm39) missense possibly damaging 0.80
R1066:Msantd5f6 UTSW 4 73,320,066 (GRCm39) missense possibly damaging 0.46
R1274:Msantd5f6 UTSW 4 73,321,313 (GRCm39) missense probably damaging 0.97
R1742:Msantd5f6 UTSW 4 73,319,447 (GRCm39) missense probably damaging 1.00
R1863:Msantd5f6 UTSW 4 73,320,037 (GRCm39) nonsense probably null
R1903:Msantd5f6 UTSW 4 73,321,675 (GRCm39) missense probably damaging 0.98
R2027:Msantd5f6 UTSW 4 73,321,295 (GRCm39) missense possibly damaging 0.46
R4011:Msantd5f6 UTSW 4 73,320,047 (GRCm39) missense probably damaging 0.97
R4801:Msantd5f6 UTSW 4 73,319,504 (GRCm39) nonsense probably null
R4802:Msantd5f6 UTSW 4 73,319,504 (GRCm39) nonsense probably null
R5334:Msantd5f6 UTSW 4 73,321,754 (GRCm39) missense probably benign 0.31
R5345:Msantd5f6 UTSW 4 73,319,514 (GRCm39) missense probably damaging 1.00
R6093:Msantd5f6 UTSW 4 73,320,258 (GRCm39) missense probably benign 0.05
R6786:Msantd5f6 UTSW 4 73,321,843 (GRCm39) missense possibly damaging 0.86
R8033:Msantd5f6 UTSW 4 73,321,329 (GRCm39) missense probably benign 0.01
R8093:Msantd5f6 UTSW 4 73,321,759 (GRCm39) missense probably damaging 0.98
R8877:Msantd5f6 UTSW 4 73,322,468 (GRCm39) nonsense probably null
R8975:Msantd5f6 UTSW 4 73,320,167 (GRCm39) missense probably damaging 0.97
R9191:Msantd5f6 UTSW 4 73,319,670 (GRCm39) missense probably damaging 0.96
R9230:Msantd5f6 UTSW 4 73,319,685 (GRCm39) missense probably benign 0.05
R9338:Msantd5f6 UTSW 4 73,320,245 (GRCm39) missense possibly damaging 0.82
Predicted Primers PCR Primer
(F):5'- AAAGTCCCCACATGTCTTCACTG -3'
(R):5'- ACCCAGAGGACAGGCAATTTC -3'

Sequencing Primer
(F):5'- CTGAGGACTTGAGCTCTAATCACG -3'
(R):5'- GGACAGGCAATTTCTTAGAGTGACTC -3'
Posted On 2016-07-22