Incidental Mutation 'R2164:Fam181a'
ID 235376
Institutional Source Beutler Lab
Gene Symbol Fam181a
Ensembl Gene ENSMUSG00000096753
Gene Name family with sequence similarity 181, member A
Synonyms EG544888
MMRRC Submission 040167-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # R2164 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 103277272-103283326 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103282785 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 230 (V230A)
Ref Sequence ENSEMBL: ENSMUSP00000140842 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021617] [ENSMUST00000149431] [ENSMUST00000179363] [ENSMUST00000189885] [ENSMUST00000191218]
AlphaFold J3QNB7
Predicted Effect probably benign
Transcript: ENSMUST00000021617
SMART Domains Protein: ENSMUSP00000021617
Gene: ENSMUSG00000021200

DomainStartEndE-ValueType
UIM 26 45 1.02e0 SMART
ANK 104 133 1.81e2 SMART
ANK 137 167 5.45e-2 SMART
ANK 171 200 5.45e-2 SMART
ANK 204 233 2.21e-2 SMART
ANK 237 266 9.13e-4 SMART
ANK 270 299 7.42e-4 SMART
ANK 303 332 1.19e-2 SMART
ANK 336 365 5.67e0 SMART
ANK 368 397 6.02e-4 SMART
ANK 410 439 3.54e-1 SMART
ANK 440 469 6.81e-3 SMART
SOCS_box 592 631 2.51e-11 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127447
Predicted Effect probably benign
Transcript: ENSMUST00000149431
SMART Domains Protein: ENSMUSP00000117595
Gene: ENSMUSG00000021200

DomainStartEndE-ValueType
low complexity region 15 34 N/A INTRINSIC
ANK 56 85 1.81e2 SMART
ANK 89 119 5.45e-2 SMART
ANK 123 152 5.45e-2 SMART
ANK 156 185 2.21e-2 SMART
ANK 189 218 9.13e-4 SMART
ANK 222 251 7.42e-4 SMART
ANK 255 284 1.19e-2 SMART
ANK 288 317 5.67e0 SMART
ANK 320 349 6.02e-4 SMART
ANK 362 391 3.54e-1 SMART
ANK 392 421 6.81e-3 SMART
SOCS_box 544 583 2.51e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000179363
AA Change: V230A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000136681
Gene: ENSMUSG00000096753
AA Change: V230A

DomainStartEndE-ValueType
Pfam:FAM181 1 280 9.5e-116 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000189885
SMART Domains Protein: ENSMUSP00000139607
Gene: ENSMUSG00000096753

DomainStartEndE-ValueType
Pfam:FAM181 1 159 6e-60 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189971
Predicted Effect probably benign
Transcript: ENSMUST00000191218
AA Change: V230A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000140842
Gene: ENSMUSG00000096753
AA Change: V230A

DomainStartEndE-ValueType
Pfam:FAM181 1 280 6.7e-87 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191414
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 CTGTAGGAAATCTTCAATGT CTGT 11: 110,101,019 (GRCm39) probably null Het
Adcy8 C T 15: 64,792,783 (GRCm39) G58S probably benign Het
Adgra2 T A 8: 27,604,232 (GRCm39) L24* probably null Het
Ampd2 C A 3: 107,992,685 (GRCm39) probably benign Het
Ankrd26 T G 6: 118,502,752 (GRCm39) E806A probably damaging Het
Apol9b A G 15: 77,619,639 (GRCm39) D145G probably benign Het
Ash1l T A 3: 88,892,726 (GRCm39) M1535K probably benign Het
Atf6 A G 1: 170,622,304 (GRCm39) M439T probably damaging Het
B3glct A T 5: 149,677,621 (GRCm39) M417L probably damaging Het
Cep192 A T 18: 67,953,431 (GRCm39) T483S probably damaging Het
Cep290 G A 10: 100,354,657 (GRCm39) E914K probably damaging Het
Chst15 C T 7: 131,872,114 (GRCm39) A56T probably damaging Het
Col27a1 A T 4: 63,143,661 (GRCm39) T450S probably benign Het
Cpsf2 A G 12: 101,951,594 (GRCm39) N177S probably damaging Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,604,632 (GRCm39) probably null Het
Ctc1 C T 11: 68,926,441 (GRCm39) A859V possibly damaging Het
Dcakd A G 11: 102,888,183 (GRCm39) Y134H possibly damaging Het
Dctn3 G T 4: 41,723,065 (GRCm39) Y22* probably null Het
Dync2h1 T A 9: 7,124,797 (GRCm39) D2025V probably damaging Het
Dync2li1 T C 17: 84,943,702 (GRCm39) S92P probably damaging Het
Eml5 A G 12: 98,853,356 (GRCm39) V81A probably damaging Het
Espl1 C T 15: 102,228,023 (GRCm39) R1625C probably damaging Het
Fanci T A 7: 79,045,743 (GRCm39) D28E probably benign Het
Fmn1 A G 2: 113,195,962 (GRCm39) N554S unknown Het
Frem2 T C 3: 53,444,751 (GRCm39) Y2460C probably damaging Het
Fscb G A 12: 64,520,567 (GRCm39) P300S probably damaging Het
Gm28042 A G 2: 119,867,229 (GRCm39) D438G probably benign Het
Ldaf1 A G 7: 119,719,462 (GRCm39) E157G possibly damaging Het
Map1b C T 13: 99,565,846 (GRCm39) V2292M unknown Het
Nbas A G 12: 13,380,647 (GRCm39) D635G possibly damaging Het
Ncapg2 A G 12: 116,414,095 (GRCm39) probably null Het
Nrp2 A T 1: 62,783,514 (GRCm39) E205V probably damaging Het
Pcdhb3 A T 18: 37,435,239 (GRCm39) T402S possibly damaging Het
Phc1 T C 6: 122,299,296 (GRCm39) N638D possibly damaging Het
Plcb1 A G 2: 135,188,250 (GRCm39) N781S possibly damaging Het
Prkdc T A 16: 15,523,071 (GRCm39) D1164E probably damaging Het
Proser2 T A 2: 6,105,506 (GRCm39) R353W possibly damaging Het
Prxl2b T G 4: 154,982,606 (GRCm39) Y56S probably damaging Het
Ptges T A 2: 30,782,708 (GRCm39) T115S probably benign Het
Ptprk A T 10: 28,436,138 (GRCm39) D833V probably damaging Het
Pum1 T A 4: 130,455,394 (GRCm39) L173* probably null Het
Pum1 G T 4: 130,455,395 (GRCm39) L269F probably damaging Het
Rasgrp4 A G 7: 28,838,470 (GRCm39) Y106C probably damaging Het
Rbbp6 T A 7: 122,598,697 (GRCm39) probably benign Het
Rdh1 A G 10: 127,596,041 (GRCm39) T79A possibly damaging Het
Relb A C 7: 19,347,686 (GRCm39) probably null Het
Rnf122 G A 8: 31,602,192 (GRCm39) W6* probably null Het
Rnf31 A G 14: 55,829,994 (GRCm39) E138G possibly damaging Het
Scaf8 G A 17: 3,247,485 (GRCm39) R936Q probably damaging Het
Scube3 T A 17: 28,385,108 (GRCm39) V686D possibly damaging Het
Snrnp27 A T 6: 86,653,196 (GRCm39) C141S probably benign Het
Spns2 C T 11: 72,349,497 (GRCm39) V252M possibly damaging Het
Tomm40l C T 1: 171,047,703 (GRCm39) S220N probably damaging Het
Trim17 A G 11: 58,862,237 (GRCm39) D423G probably damaging Het
Trpc6 A AT 9: 8,610,466 (GRCm39) probably null Het
Tut4 G A 4: 108,360,226 (GRCm39) R481Q possibly damaging Het
Uba5 A T 9: 103,937,442 (GRCm39) M89K probably damaging Het
Vav2 T C 2: 27,163,718 (GRCm39) D628G probably damaging Het
Vmn2r107 T C 17: 20,595,904 (GRCm39) L819P probably damaging Het
Vmn2r25 A T 6: 123,816,518 (GRCm39) D354E possibly damaging Het
Xrn1 A G 9: 95,888,873 (GRCm39) E984G possibly damaging Het
Zbtb17 T C 4: 141,191,557 (GRCm39) V223A probably benign Het
Zfp592 T C 7: 80,691,186 (GRCm39) S1122P possibly damaging Het
Other mutations in Fam181a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1623:Fam181a UTSW 12 103,282,591 (GRCm39) nonsense probably null
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
R9150:Fam181a UTSW 12 103,282,139 (GRCm39) missense probably damaging 1.00
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'- CCAGGGAGGCATCTTTGTATGAG -3'
(R):5'- CTGAGGGTGTTCAGCTAGAG -3'

Sequencing Primer
(F):5'- AACTGCAAGGGTCTGGAGTCC -3'
(R):5'- GCTAGAGGTAGCCAAAGACATTG -3'
Posted On 2014-10-01