Incidental Mutation 'R9150:Fam181a'
ID 694981
Institutional Source Beutler Lab
Gene Symbol Fam181a
Ensembl Gene ENSMUSG00000096753
Gene Name family with sequence similarity 181, member A
Synonyms EG544888
MMRRC Submission 068938-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # R9150 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 103277272-103283326 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 103282139 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 15 (N15Y)
Ref Sequence ENSEMBL: ENSMUSP00000136681 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000179363] [ENSMUST00000189885] [ENSMUST00000191218]
AlphaFold J3QNB7
Predicted Effect probably damaging
Transcript: ENSMUST00000179363
AA Change: N15Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136681
Gene: ENSMUSG00000096753
AA Change: N15Y

DomainStartEndE-ValueType
Pfam:FAM181 1 280 9.5e-116 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000189885
AA Change: N15Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139607
Gene: ENSMUSG00000096753
AA Change: N15Y

DomainStartEndE-ValueType
Pfam:FAM181 1 159 6e-60 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000191218
AA Change: N15Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140842
Gene: ENSMUSG00000096753
AA Change: N15Y

DomainStartEndE-ValueType
Pfam:FAM181 1 280 6.7e-87 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 98% (56/57)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6b CTCCGGTGAGTGCCTCATCC CTCC 5: 137,553,354 (GRCm39) probably null Het
Ampd1 A T 3: 102,988,359 (GRCm39) I101F possibly damaging Het
Arhgap11a A G 2: 113,673,614 (GRCm39) V92A possibly damaging Het
Arih1 C A 9: 59,344,069 (GRCm39) L189F possibly damaging Het
B4galt3 A G 1: 171,103,899 (GRCm39) R379G probably benign Het
Capn12 A G 7: 28,590,378 (GRCm39) N642D probably benign Het
Cdc42ep3 T C 17: 79,642,299 (GRCm39) H207R probably benign Het
Dcps A T 9: 35,035,938 (GRCm39) L316H probably damaging Het
Dmgdh A G 13: 93,825,103 (GRCm39) Y142C probably damaging Het
Elmo2 A G 2: 165,140,607 (GRCm39) V300A probably damaging Het
Eml6 A T 11: 29,755,791 (GRCm39) V821E probably benign Het
Gm26657 G T 4: 56,740,835 (GRCm39) E7* probably null Het
Gm8267 A T 14: 44,955,362 (GRCm39) S220T probably benign Het
Gpld1 A T 13: 25,146,305 (GRCm39) Y183F probably damaging Het
Gpr158 G A 2: 21,831,251 (GRCm39) G784R probably benign Het
Grm2 A G 9: 106,524,657 (GRCm39) L215P Het
Gtpbp1 A G 15: 79,592,165 (GRCm39) D252G probably damaging Het
Heatr5b A G 17: 79,103,448 (GRCm39) V1135A probably benign Het
Irag1 T C 7: 110,498,205 (GRCm39) T397A probably benign Het
Lrrc8e A C 8: 4,286,030 (GRCm39) K752Q probably benign Het
Ltbp2 G A 12: 84,837,864 (GRCm39) P1192L probably benign Het
Mapre2 A G 18: 23,991,208 (GRCm39) T201A probably benign Het
Mcm9 A T 10: 53,502,110 (GRCm39) N85K Het
Mdga1 T C 17: 30,057,420 (GRCm39) T92A probably damaging Het
Nemf A C 12: 69,387,820 (GRCm39) D421E probably benign Het
Oga A T 19: 45,771,421 (GRCm39) V50E probably benign Het
Or13g1 G C 7: 85,955,942 (GRCm39) F126L probably damaging Het
Or5k14 G T 16: 58,693,005 (GRCm39) C169* probably null Het
Or5m3 A T 2: 85,838,626 (GRCm39) K169* probably null Het
Or8k53 A T 2: 86,177,336 (GRCm39) M258K probably damaging Het
Pcdhga5 A C 18: 37,827,933 (GRCm39) N127T probably damaging Het
Phyhipl A T 10: 70,404,887 (GRCm39) V107E probably damaging Het
Pkd1l1 G A 11: 8,786,256 (GRCm39) R2383C Het
Ppp1r16a G A 15: 76,575,054 (GRCm39) probably benign Het
Pramel20 A G 4: 143,298,531 (GRCm39) Y158C probably benign Het
Rnf41 T C 10: 128,272,399 (GRCm39) V142A Het
Sgcd C T 11: 46,870,170 (GRCm39) V264I probably damaging Het
Six2 A G 17: 85,992,763 (GRCm39) S247P probably benign Het
Slc17a7 T G 7: 44,820,167 (GRCm39) Y241D probably damaging Het
Slc30a5 T A 13: 100,939,915 (GRCm39) K724* probably null Het
Slitrk1 T A 14: 109,149,101 (GRCm39) I537F possibly damaging Het
Sp140l2 T A 1: 85,091,359 (GRCm39) Q33L probably damaging Het
Spen C T 4: 141,244,468 (GRCm39) R189Q unknown Het
Srd5a3 T A 5: 76,297,615 (GRCm39) L139Q probably damaging Het
Tgfbrap1 A T 1: 43,114,985 (GRCm39) Y38* probably null Het
Tln2 A T 9: 67,128,778 (GRCm39) M1437K probably damaging Het
Tmem87b T C 2: 128,687,401 (GRCm39) I467T probably damaging Het
Tnfrsf21 T A 17: 43,398,691 (GRCm39) I599N probably damaging Het
Trmt112 T A 19: 6,887,620 (GRCm39) L23Q probably damaging Het
Tsc22d1 T A 14: 76,654,056 (GRCm39) N178K probably damaging Het
Ttc23 A G 7: 67,375,850 (GRCm39) Y476C probably damaging Het
Twf1 A T 15: 94,484,274 (GRCm39) W83R probably damaging Het
Vmn2r14 T A 5: 109,367,783 (GRCm39) H403L probably damaging Het
Wiz A T 17: 32,586,809 (GRCm39) I167N probably benign Het
Zdhhc22 G A 12: 87,035,192 (GRCm39) P87S probably benign Het
Zfp618 C T 4: 63,039,603 (GRCm39) Q401* probably null Het
Zfp715 T A 7: 42,948,713 (GRCm39) I416F possibly damaging Het
Other mutations in Fam181a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1623:Fam181a UTSW 12 103,282,591 (GRCm39) nonsense probably null
R2164:Fam181a UTSW 12 103,282,785 (GRCm39) missense probably benign
R3237:Fam181a UTSW 12 103,282,348 (GRCm39) missense possibly damaging 0.95
R4208:Fam181a UTSW 12 103,282,173 (GRCm39) missense probably damaging 1.00
R5238:Fam181a UTSW 12 103,282,392 (GRCm39) missense probably benign 0.19
R5468:Fam181a UTSW 12 103,282,937 (GRCm39) missense probably benign
R6268:Fam181a UTSW 12 103,282,803 (GRCm39) missense possibly damaging 0.77
R6957:Fam181a UTSW 12 103,282,773 (GRCm39) missense probably damaging 0.97
R7100:Fam181a UTSW 12 103,282,132 (GRCm39) missense probably damaging 1.00
R7614:Fam181a UTSW 12 103,282,805 (GRCm39) missense probably damaging 1.00
R8075:Fam181a UTSW 12 103,282,296 (GRCm39) missense possibly damaging 0.60
R9449:Fam181a UTSW 12 103,282,107 (GRCm39) missense probably damaging 1.00
R9620:Fam181a UTSW 12 103,282,591 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CAGCCCCATTGTGGATTCTG -3'
(R):5'- GAAAGGCATTCCTCCCTAAAGG -3'

Sequencing Primer
(F):5'- CATTGGGTCCTGGTGGCC -3'
(R):5'- CCAGGGCCTTTTCTGTGCAG -3'
Posted On 2022-01-20