Incidental Mutation 'R4571:Fam76a'
ID 342133
Institutional Source Beutler Lab
Gene Symbol Fam76a
Ensembl Gene ENSMUSG00000028878
Gene Name family with sequence similarity 76, member A
Synonyms
MMRRC Submission 041795-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.169) question?
Stock # R4571 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 132626524-132649869 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 132648208 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 3 (H3R)
Ref Sequence ENSEMBL: ENSMUSP00000121892 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030696] [ENSMUST00000097856] [ENSMUST00000148667]
AlphaFold Q922G2
Predicted Effect probably benign
Transcript: ENSMUST00000030696
SMART Domains Protein: ENSMUSP00000030696
Gene: ENSMUSG00000028878

DomainStartEndE-ValueType
Pfam:FAM76 4 297 2.3e-115 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000097856
SMART Domains Protein: ENSMUSP00000095468
Gene: ENSMUSG00000028878

DomainStartEndE-ValueType
low complexity region 111 122 N/A INTRINSIC
coiled coil region 188 271 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000148667
AA Change: H3R

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000121892
Gene: ENSMUSG00000028878
AA Change: H3R

DomainStartEndE-ValueType
internal_repeat_1 38 63 9.63e-5 PROSPERO
internal_repeat_1 68 93 9.63e-5 PROSPERO
low complexity region 94 105 N/A INTRINSIC
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 100% (69/69)
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A T 11: 109,920,884 (GRCm39) C1497S probably damaging Het
Acoxl G T 2: 127,719,727 (GRCm39) G163W probably damaging Het
Apbb1 T A 7: 105,222,969 (GRCm39) N214I probably damaging Het
Apol7b T C 15: 77,307,734 (GRCm39) K254E probably benign Het
Arl4d T A 11: 101,557,969 (GRCm39) V165E possibly damaging Het
Brca1 C A 11: 101,408,192 (GRCm39) R1377L probably benign Het
Btf3 A G 13: 98,449,792 (GRCm39) F65L probably benign Het
C2 T C 17: 35,082,635 (GRCm39) N495D probably benign Het
Cacna1c T C 6: 118,607,341 (GRCm39) T1188A probably benign Het
Chd7 C A 4: 8,866,217 (GRCm39) D796E probably benign Het
Clasp2 G T 9: 113,676,789 (GRCm39) L173F probably damaging Het
Clec4g A T 8: 3,768,766 (GRCm39) probably null Het
Col9a3 T C 2: 180,258,159 (GRCm39) probably benign Het
Csmd2 T A 4: 128,373,888 (GRCm39) probably null Het
Ddx11 T C 17: 66,437,768 (GRCm39) C165R probably benign Het
Dnah7c A C 1: 46,572,376 (GRCm39) M950L probably damaging Het
Dusp23 A C 1: 172,460,181 (GRCm39) probably null Het
Ebag9 A T 15: 44,500,158 (GRCm39) probably null Het
Edn3 G A 2: 174,623,697 (GRCm39) A211T probably benign Het
Eif3e G A 15: 43,129,558 (GRCm39) T190I possibly damaging Het
Gabbr1 G T 17: 37,365,128 (GRCm39) E138* probably null Het
Galc T C 12: 98,188,876 (GRCm39) T412A probably benign Het
Gimap3 T C 6: 48,742,654 (GRCm39) D92G possibly damaging Het
Gin1 T C 1: 97,712,801 (GRCm39) Y285H probably damaging Het
Gm4868 A G 5: 125,925,782 (GRCm39) noncoding transcript Het
Gm7052 T A 17: 22,259,405 (GRCm39) probably benign Het
Gpcpd1 T A 2: 132,392,270 (GRCm39) E226D probably benign Het
Hoxb4 T C 11: 96,209,992 (GRCm39) S133P possibly damaging Het
Hrg C T 16: 22,779,972 (GRCm39) probably benign Het
Insrr A G 3: 87,708,194 (GRCm39) K212R probably benign Het
Ipp A G 4: 116,387,655 (GRCm39) D411G probably damaging Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Kcnq3 A G 15: 65,902,461 (GRCm39) F172L probably damaging Het
Kdm5d T C Y: 927,110 (GRCm39) F616S probably damaging Het
Lars1 T C 18: 42,361,295 (GRCm39) probably null Het
Lmo7 G T 14: 102,125,030 (GRCm39) Q496H probably damaging Het
Map3k9 C A 12: 81,780,865 (GRCm39) A432S probably benign Het
Nop2 T G 6: 125,117,844 (GRCm39) probably null Het
Nup50l T A 6: 96,141,862 (GRCm39) N394I probably damaging Het
Or10ag53 C A 2: 87,082,802 (GRCm39) Q174K possibly damaging Het
Or2h2 T C 17: 37,396,471 (GRCm39) I195M probably damaging Het
Or5m11b A T 2: 85,806,175 (GRCm39) E196V probably damaging Het
Or6k2 A T 1: 173,986,494 (GRCm39) N52Y possibly damaging Het
Pan2 A G 10: 128,144,512 (GRCm39) T187A probably benign Het
Pcmtd2 A G 2: 181,484,217 (GRCm39) E9G possibly damaging Het
Pik3cb T A 9: 98,972,310 (GRCm39) I283F possibly damaging Het
Pkhd1 G A 1: 20,683,633 (GRCm39) T40I probably damaging Het
Plxna2 T C 1: 194,493,296 (GRCm39) V1857A possibly damaging Het
Polg T C 7: 79,110,127 (GRCm39) S334G probably damaging Het
Rem2 T C 14: 54,715,116 (GRCm39) S98P probably damaging Het
Rpl5-ps2 G T 2: 154,546,156 (GRCm39) noncoding transcript Het
Slc6a18 A T 13: 73,814,489 (GRCm39) N468K possibly damaging Het
Slco4a1 A T 2: 180,106,171 (GRCm39) T118S probably benign Het
Smg1 A T 7: 117,738,688 (GRCm39) N3520K possibly damaging Het
Tapbp C A 17: 34,145,427 (GRCm39) D415E probably damaging Het
Topaz1 A G 9: 122,576,501 (GRCm39) T31A probably benign Het
Trpv6 C T 6: 41,598,678 (GRCm39) R649H probably damaging Het
Vmn1r188 A G 13: 22,272,688 (GRCm39) Y214C probably benign Het
Vps8 T A 16: 21,254,525 (GRCm39) I59N probably damaging Het
Wnt9a T C 11: 59,222,163 (GRCm39) C354R probably damaging Het
Zcchc2 A G 1: 105,958,987 (GRCm39) T1153A possibly damaging Het
Zfp30 A G 7: 29,492,627 (GRCm39) R294G probably damaging Het
Zfp558 A T 9: 18,367,799 (GRCm39) C330S possibly damaging Het
Zfp62 A C 11: 49,106,568 (GRCm39) S220R probably damaging Het
Zfp62 G T 11: 49,106,569 (GRCm39) S220I probably damaging Het
Zp3r A G 1: 130,505,757 (GRCm39) S423P probably damaging Het
Other mutations in Fam76a
AlleleSourceChrCoordTypePredicted EffectPPH Score
BB003:Fam76a UTSW 4 132,629,405 (GRCm39) missense probably damaging 1.00
BB013:Fam76a UTSW 4 132,629,405 (GRCm39) missense probably damaging 1.00
R0099:Fam76a UTSW 4 132,638,098 (GRCm39) unclassified probably benign
R0764:Fam76a UTSW 4 132,638,010 (GRCm39) missense probably damaging 1.00
R1567:Fam76a UTSW 4 132,645,039 (GRCm39) nonsense probably null
R1971:Fam76a UTSW 4 132,631,294 (GRCm39) missense probably damaging 1.00
R3907:Fam76a UTSW 4 132,643,432 (GRCm39) missense probably damaging 1.00
R4783:Fam76a UTSW 4 132,643,501 (GRCm39) missense probably damaging 1.00
R4783:Fam76a UTSW 4 132,629,428 (GRCm39) splice site probably null
R4784:Fam76a UTSW 4 132,643,501 (GRCm39) missense probably damaging 1.00
R4784:Fam76a UTSW 4 132,629,428 (GRCm39) splice site probably null
R4785:Fam76a UTSW 4 132,643,501 (GRCm39) missense probably damaging 1.00
R4785:Fam76a UTSW 4 132,629,428 (GRCm39) splice site probably null
R5871:Fam76a UTSW 4 132,631,321 (GRCm39) missense probably damaging 1.00
R7107:Fam76a UTSW 4 132,631,232 (GRCm39) missense possibly damaging 0.65
R7832:Fam76a UTSW 4 132,629,342 (GRCm39) missense probably damaging 0.99
R7926:Fam76a UTSW 4 132,629,405 (GRCm39) missense probably damaging 1.00
R9430:Fam76a UTSW 4 132,645,055 (GRCm39) missense probably damaging 0.98
R9650:Fam76a UTSW 4 132,629,387 (GRCm39) missense probably damaging 1.00
R9673:Fam76a UTSW 4 132,628,557 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GAGAACTGTACCTCTCCTGC -3'
(R):5'- ATCTTTTGCCTTCGTATCACAAGTG -3'

Sequencing Primer
(F):5'- CTGGTACTCGGTCCTACAGTAG -3'
(R):5'- GATCCTTCTCATTATCCCACAACAG -3'
Posted On 2015-09-24