Incidental Mutation 'R7203:Fam161a'
ID 574616
Institutional Source Beutler Lab
Gene Symbol Fam161a
Ensembl Gene ENSMUSG00000049811
Gene Name family with sequence similarity 161, member A
Synonyms 4930430E16Rik
MMRRC Submission 045281-MU
Accession Numbers

Genbank: NM_028672; MGI: 1921123

Essential gene? Non essential (E-score: 0.000) question?
Stock # R7203 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 23007531-23030788 bp(+) (GRCm38)
Type of Mutation splice site (3 bp from exon)
DNA Base Change (assembly) A to G at 23021664 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000058269] [ENSMUST00000109557] [ENSMUST00000151877] [ENSMUST00000172602] [ENSMUST00000173923]
AlphaFold Q8QZV6
Predicted Effect probably benign
Transcript: ENSMUST00000058269
SMART Domains Protein: ENSMUSP00000063091
Gene: ENSMUSG00000049811

coiled coil region 11 37 N/A INTRINSIC
low complexity region 54 67 N/A INTRINSIC
low complexity region 80 95 N/A INTRINSIC
Pfam:UPF0564 150 401 4.7e-74 PFAM
Pfam:UPF0564 398 451 5.8e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000094363
SMART Domains Protein: ENSMUSP00000091923
Gene: ENSMUSG00000049811

Pfam:UPF0564 1 136 3.6e-15 PFAM
low complexity region 181 202 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000109557
SMART Domains Protein: ENSMUSP00000105184
Gene: ENSMUSG00000049811

coiled coil region 11 37 N/A INTRINSIC
low complexity region 54 67 N/A INTRINSIC
low complexity region 80 95 N/A INTRINSIC
Pfam:UPF0564 150 350 8.1e-36 PFAM
low complexity region 396 417 N/A INTRINSIC
coiled coil region 437 460 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000151877
SMART Domains Protein: ENSMUSP00000121167
Gene: ENSMUSG00000049811

Pfam:UPF0564 1 263 2.2e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000172602
SMART Domains Protein: ENSMUSP00000134485
Gene: ENSMUSG00000049811

coiled coil region 11 37 N/A INTRINSIC
low complexity region 54 67 N/A INTRINSIC
low complexity region 80 95 N/A INTRINSIC
Pfam:UPF0564 150 401 4.7e-74 PFAM
Pfam:UPF0564 398 451 5.8e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173923
SMART Domains Protein: ENSMUSP00000133293
Gene: ENSMUSG00000049811

coiled coil region 11 37 N/A INTRINSIC
low complexity region 54 67 N/A INTRINSIC
low complexity region 80 95 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000208732
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (108/108)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the FAM161 family. It is expressed mainly in the retina. Mouse studies suggested that this gene is involved in development of retinal progenitors during embryogenesis, and that its activity is restricted to mature photoreceptors after birth. Mutations in this gene cause autosomal recessive retinitis pigmentosa-28. Alternatively spliced transcript variants have been identified.[provided by RefSeq, Jan 2011]
PHENOTYPE: Mice homozygous for a gene trapped allele show early loss of visual function associated with alterations in photoreceptor ciliary structure, abnormal photoreceptor outer segment morphology, microgliosis, and progressive retinal photoreceptor degeneration. [provided by MGI curators]
Allele List at MGI

All alleles(4) : Gene trapped(4)

Other mutations in this stock
Total: 108 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930544G11Rik T C 6: 65,953,333 (GRCm38) V184A probably benign Het
4932415D10Rik G A 10: 82,293,414 (GRCm38) T1254I probably benign Het
Aars2 A G 17: 45,516,571 (GRCm38) Y513C probably damaging Het
Ackr2 G A 9: 121,908,967 (GRCm38) C136Y probably damaging Het
Aldh1l1 A G 6: 90,570,800 (GRCm38) K414R probably benign Het
Arl9 A G 5: 77,007,271 (GRCm38) Y83C possibly damaging Het
Atp10a G T 7: 58,786,473 (GRCm38) R337L probably benign Het
Atp6v1g3 A T 1: 138,287,800 (GRCm38) Q66L probably damaging Het
Atp7b A T 8: 21,997,335 (GRCm38) N1321K probably damaging Het
Axdnd1 A T 1: 156,382,389 (GRCm38) M437K probably damaging Het
Bap1 C A 14: 31,254,169 (GRCm38) P147Q probably damaging Het
Bicd1 C T 6: 149,512,905 (GRCm38) T372I possibly damaging Het
Brix1 T C 15: 10,483,292 (GRCm38) probably null Het
Btrc A G 19: 45,513,528 (GRCm38) probably null Het
C130050O18Rik A C 5: 139,414,374 (GRCm38) I61L probably benign Het
Cfap161 A G 7: 83,776,050 (GRCm38) S278P probably damaging Het
Cgnl1 T C 9: 71,724,533 (GRCm38) D512G possibly damaging Het
Chat T C 14: 32,419,057 (GRCm38) D461G probably damaging Het
Chl1 T A 6: 103,691,674 (GRCm38) V456D probably benign Het
Cib1 T C 7: 80,232,372 (GRCm38) T20A possibly damaging Het
Cubn T G 2: 13,351,003 (GRCm38) H1806P probably benign Het
Dapk1 T A 13: 60,696,335 (GRCm38) V56E possibly damaging Het
Dennd4a A G 9: 64,896,474 (GRCm38) N1032D probably benign Het
Dlg5 T A 14: 24,138,655 (GRCm38) E1756V probably damaging Het
Dnah1 T C 14: 31,274,382 (GRCm38) T2666A probably benign Het
Dnah11 A T 12: 118,045,522 (GRCm38) I2135N possibly damaging Het
Dnah6 T A 6: 73,173,545 (GRCm38) E745V probably benign Het
Dock8 A T 19: 25,181,563 (GRCm38) N1695I probably damaging Het
Esf1 C T 2: 140,164,219 (GRCm38) R336Q possibly damaging Het
Fam89a T C 8: 124,751,679 (GRCm38) E44G possibly damaging Het
Fndc3b A T 3: 27,456,485 (GRCm38) D829E probably benign Het
Fxr1 C T 3: 34,046,540 (GRCm38) T125I possibly damaging Het
Gfer T C 17: 24,695,862 (GRCm38) D69G probably damaging Het
Gm16486 A T 8: 70,716,948 (GRCm38) E1229V probably benign Het
Gm2000 A T 1: 156,366,087 (GRCm38) I4F probably damaging Het
Gpatch2l T A 12: 86,288,937 (GRCm38) S471T probably benign Het
Grm7 T G 6: 111,358,569 (GRCm38) I647S possibly damaging Het
Gsn A G 2: 35,298,795 (GRCm38) I447V probably benign Het
H2al2c C T Y: 2,599,234 (GRCm38) L46F possibly damaging Het
Hao2 A C 3: 98,877,282 (GRCm38) probably null Het
Ifitm10 T C 7: 142,328,568 (GRCm38) E155G probably benign Het
Igkv8-16 C A 6: 70,386,810 (GRCm38) W76L probably benign Het
Igsf21 A T 4: 140,107,337 (GRCm38) F75I possibly damaging Het
Ints14 T A 9: 64,964,419 (GRCm38) M13K probably damaging Het
Ipmk A T 10: 71,363,468 (GRCm38) D53V possibly damaging Het
Itga8 A G 2: 12,230,095 (GRCm38) F451L possibly damaging Het
Jup A G 11: 100,381,734 (GRCm38) F284S probably damaging Het
Kctd5 T C 17: 24,073,235 (GRCm38) D65G probably benign Het
Klrc1 A T 6: 129,677,221 (GRCm38) S148T probably benign Het
Kmt5b A G 19: 3,814,147 (GRCm38) K404E probably damaging Het
Krt9 A C 11: 100,190,791 (GRCm38) M304R probably damaging Het
Krtap5-1 A T 7: 142,296,562 (GRCm38) S143T unknown Het
Kyat3 A G 3: 142,720,401 (GRCm38) N68D probably damaging Het
Kynu A G 2: 43,681,353 (GRCm38) D427G probably damaging Het
Leo1 A G 9: 75,445,996 (GRCm38) probably null Het
Loxhd1 A G 18: 77,414,196 (GRCm38) D1737G probably damaging Het
Lpo C A 11: 87,809,251 (GRCm38) L521F possibly damaging Het
Lrrk1 A G 7: 66,270,825 (GRCm38) S1477P probably damaging Het
Lrrtm1 C A 6: 77,243,601 (GRCm38) L14M probably damaging Het
Ly75 G A 2: 60,323,852 (GRCm38) R1084* probably null Het
Mcf2l A G 8: 13,010,456 (GRCm38) D764G probably benign Het
Mrgprd A T 7: 145,322,349 (GRCm38) D319V probably benign Het
Mut A T 17: 40,938,673 (GRCm38) M180L probably benign Het
Myom3 T C 4: 135,795,179 (GRCm38) L897P possibly damaging Het
Ncapd2 A T 6: 125,184,328 (GRCm38) M247K possibly damaging Het
Nlrp2 T C 7: 5,317,534 (GRCm38) D868G probably damaging Het
Npy6r A G 18: 44,275,932 (GRCm38) N140S probably damaging Het
Nsmce4a T C 7: 130,539,872 (GRCm38) K196E probably benign Het
Nup88 T C 11: 70,945,254 (GRCm38) K532R probably benign Het
Olfr424 T A 1: 174,137,114 (GRCm38) Y123* probably null Het
Olfr947-ps1 A T 9: 39,289,293 (GRCm38) I199N unknown Het
Olfr974 T A 9: 39,942,509 (GRCm38) V83E probably benign Het
Pbxip1 A T 3: 89,447,428 (GRCm38) D418V possibly damaging Het
Pde2a C A 7: 101,509,944 (GRCm38) R761S possibly damaging Het
Phf10 A T 17: 14,946,313 (GRCm38) C432S probably damaging Het
Pitpnm2 T C 5: 124,121,459 (GRCm38) D1271G probably damaging Het
Plin1 A T 7: 79,723,444 (GRCm38) L259Q probably damaging Het
Pmpca G C 2: 26,395,034 (GRCm38) E424Q possibly damaging Het
Pou6f2 T A 13: 18,239,794 (GRCm38) Q132L unknown Het
Ppa2 A T 3: 133,330,438 (GRCm38) N118Y possibly damaging Het
Prickle2 T C 6: 92,410,978 (GRCm38) E537G possibly damaging Het
Prl3d1 A G 13: 27,098,701 (GRCm38) I141V possibly damaging Het
Prl8a1 A T 13: 27,574,189 (GRCm38) V179D probably damaging Het
Prr14l A G 5: 32,827,145 (GRCm38) F1669L probably benign Het
Prrg4 T A 2: 104,839,442 (GRCm38) E110V possibly damaging Het
Rfx5 C A 3: 94,958,876 (GRCm38) H495Q unknown Het
Rgl2 C T 17: 33,933,429 (GRCm38) R367W probably damaging Het
Rpe65 A G 3: 159,622,854 (GRCm38) Y433C probably damaging Het
Rtn4rl1 C T 11: 75,265,750 (GRCm38) S336F possibly damaging Het
Scn2a A G 2: 65,748,319 (GRCm38) D1446G probably benign Het
Sdk1 C A 5: 142,046,176 (GRCm38) T1002K probably benign Het
Slc9b2 T C 3: 135,330,661 (GRCm38) S409P probably benign Het
Sowahc A G 10: 59,222,278 (GRCm38) T79A probably benign Het
Stk35 T A 2: 129,801,593 (GRCm38) C166S probably benign Het
Tarbp2 A G 15: 102,522,487 (GRCm38) H225R probably benign Het
Tdrd12 T A 7: 35,489,223 (GRCm38) K530* probably null Het
Terf2ip A G 8: 112,017,986 (GRCm38) I312V probably benign Het
Tgfb1 T C 7: 25,692,539 (GRCm38) probably null Het
Thbs2 T C 17: 14,671,458 (GRCm38) D939G probably damaging Het
Ube4b A T 4: 149,398,610 (GRCm38) I67K probably benign Het
Ubn1 G T 16: 5,077,216 (GRCm38) V709F possibly damaging Het
Ugt2b5 T C 5: 87,128,399 (GRCm38) K339E possibly damaging Het
Vax2 T C 6: 83,737,900 (GRCm38) S266P probably damaging Het
Vmn2r108 A G 17: 20,462,776 (GRCm38) I722T probably benign Het
Vmn2r95 A G 17: 18,441,315 (GRCm38) K441R probably benign Het
Wapl C A 14: 34,736,691 (GRCm38) D903E probably benign Het
Wee1 T A 7: 110,134,794 (GRCm38) V442D probably benign Het
Zan T C 5: 137,434,096 (GRCm38) N2313S unknown Het
Other mutations in Fam161a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01099:Fam161a APN 11 23,015,894 (GRCm38) unclassified probably benign
IGL01457:Fam161a APN 11 23,020,702 (GRCm38) nonsense probably null
IGL01823:Fam161a APN 11 23,015,785 (GRCm38) missense probably damaging 1.00
IGL02111:Fam161a APN 11 23,020,026 (GRCm38) missense probably benign 0.05
3-1:Fam161a UTSW 11 23,023,429 (GRCm38) critical splice acceptor site probably null
R0531:Fam161a UTSW 11 23,020,298 (GRCm38) missense possibly damaging 0.49
R1524:Fam161a UTSW 11 23,015,826 (GRCm38) missense possibly damaging 0.80
R1550:Fam161a UTSW 11 23,020,470 (GRCm38) missense possibly damaging 0.58
R1599:Fam161a UTSW 11 23,021,093 (GRCm38) missense probably benign 0.43
R3744:Fam161a UTSW 11 23,020,410 (GRCm38) missense probably damaging 1.00
R3962:Fam161a UTSW 11 23,023,507 (GRCm38) missense possibly damaging 0.82
R4352:Fam161a UTSW 11 23,020,798 (GRCm38) missense possibly damaging 0.90
R4607:Fam161a UTSW 11 23,020,710 (GRCm38) missense probably benign 0.03
R4820:Fam161a UTSW 11 23,020,076 (GRCm38) missense probably damaging 1.00
R5057:Fam161a UTSW 11 23,020,397 (GRCm38) missense probably damaging 1.00
R5207:Fam161a UTSW 11 23,020,583 (GRCm38) nonsense probably null
R5645:Fam161a UTSW 11 23,015,725 (GRCm38) missense probably damaging 1.00
R5705:Fam161a UTSW 11 23,028,869 (GRCm38) missense unknown
R7107:Fam161a UTSW 11 23,023,452 (GRCm38) missense possibly damaging 0.84
R7242:Fam161a UTSW 11 23,020,037 (GRCm38) missense possibly damaging 0.81
R7286:Fam161a UTSW 11 23,020,001 (GRCm38) missense possibly damaging 0.58
R7483:Fam161a UTSW 11 23,021,006 (GRCm38) missense probably damaging 0.99
R8027:Fam161a UTSW 11 23,020,125 (GRCm38) missense probably damaging 0.99
R8878:Fam161a UTSW 11 23,020,092 (GRCm38) missense probably benign 0.16
R9375:Fam161a UTSW 11 23,020,661 (GRCm38) missense probably damaging 1.00
R9745:Fam161a UTSW 11 23,023,495 (GRCm38) missense possibly damaging 0.73
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2019-09-23