Mutagenetix > Incidental Mutation

Incidental Mutation 'R9745:Fam161a'

732065

Institutional Source

Beutler Lab

Gene Symbol

Fam161a

Ensembl Gene

ENSMUSG00000049811

Gene Name

family with sequence similarity 161, member A

Synonyms

4930430E16Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9745 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

22957531-22980788 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 22973495 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 459 (Q459L)

Ref Sequence

ENSEMBL: ENSMUSP00000063091 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058269] [ENSMUST00000109557] [ENSMUST00000151877] [ENSMUST00000172602] [ENSMUST00000173923]

AlphaFold

Q8QZV6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000058269
AA Change: Q459L

PolyPhen 2 Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000063091
Gene: ENSMUSG00000049811
AA Change: Q459L

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:UPF0564	1	136	3.6e-15	PFAM
low complexity region	181	202	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109557
AA Change: Q459L

PolyPhen 2 Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000105184
Gene: ENSMUSG00000049811
AA Change: Q459L

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000151877
AA Change: Q271L

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000121167
Gene: ENSMUSG00000049811
AA Change: Q271L

Domain	Start	End	E-Value	Type
Pfam:UPF0564	1	263	2.2e-41	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000172602
AA Change: Q459L

PolyPhen 2 Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000134485
Gene: ENSMUSG00000049811
AA Change: Q459L

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000208732
AA Change: Q456L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 99.1%
20x: 97.9%

Validation Efficiency

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap2	T	A	10: 126,919,380 (GRCm39)	H488Q	unknown	Het
Ces1b	T	C	8: 93,790,625 (GRCm39)	D388G	probably benign	Het
Ces1f	T	C	8: 93,989,740 (GRCm39)	D392G	probably benign	Het
Ces5a	A	G	8: 94,228,814 (GRCm39)	V472A	probably damaging	Het
Chst1	A	G	2: 92,444,047 (GRCm39)	D173G	possibly damaging	Het
Cngb1	T	G	8: 95,967,919 (GRCm39)	E1294A	unknown	Het
Cnmd	T	C	14: 79,887,850 (GRCm39)	I124V	possibly damaging	Het
Cntnap2	A	T	6: 46,211,100 (GRCm39)	M505L	probably benign	Het
Cntnap4	T	A	8: 113,391,808 (GRCm39)	M91K	possibly damaging	Het
Cstad	A	G	2: 30,498,197 (GRCm39)	T11A	unknown	Het
Cyp2j6	A	T	4: 96,441,621 (GRCm39)	V23E	possibly damaging	Het
Dapk3	C	A	10: 81,028,594 (GRCm39)	T388K	unknown	Het
Dennd6a	G	A	14: 26,320,818 (GRCm39)	G120R	possibly damaging	Het
Disp1	A	C	1: 182,869,310 (GRCm39)	S1037A	probably damaging	Het
Dpcd	A	T	19: 45,560,881 (GRCm39)	Q103L	probably benign	Het
Egfem1	A	T	3: 29,716,532 (GRCm39)	D334V	probably damaging	Het
Egflam	C	T	15: 7,333,419 (GRCm39)	V178M	probably benign	Het
Ehbp1	T	C	11: 22,096,692 (GRCm39)	T291A	probably benign	Het
Eif5b	G	T	1: 38,084,729 (GRCm39)	V859F	probably damaging	Het
Fcgrt	A	C	7: 44,742,754 (GRCm39)	D342E	probably damaging	Het
Fchsd1	A	C	18: 38,102,425 (GRCm39)	D34E	probably benign	Het
Foxo4	G	A	X: 100,301,955 (GRCm39)	S209N	probably benign	Het
Galt	A	T	4: 41,758,185 (GRCm39)	M317L	possibly damaging	Het
Gfm1	A	G	3: 67,358,657 (GRCm39)	D416G	possibly damaging	Het
Glcci1	A	T	6: 8,573,278 (GRCm39)	I256L	probably benign	Het
Ibtk	C	T	9: 85,613,280 (GRCm39)	G228S	probably benign	Het
Ift70b	T	C	2: 75,768,261 (GRCm39)	Y164C	probably benign	Het
Il2rb	T	A	15: 78,372,399 (GRCm39)	D106V	probably benign	Het
Map3k6	A	T	4: 132,979,783 (GRCm39)	I1261F	probably damaging	Het
Mast2	A	G	4: 116,167,815 (GRCm39)	L1014P	probably benign	Het
Mcm2	G	A	6: 88,868,729 (GRCm39)	Q343*	probably null	Het
Megf8	A	G	7: 25,058,133 (GRCm39)	T2136A	possibly damaging	Het
Mmp28	G	A	11: 83,342,283 (GRCm39)	T103I	probably benign	Het
Mtif2	G	A	11: 29,476,587 (GRCm39)		probably benign	Het
Mtus2	A	T	5: 148,013,311 (GRCm39)	T35S	possibly damaging	Het
Ncoa2	A	T	1: 13,245,192 (GRCm39)	I502N	probably benign	Het
Nek5	A	C	8: 22,573,479 (GRCm39)	D492E	probably benign	Het
Nin	T	C	12: 70,089,899 (GRCm39)	E1172G		Het
Nsmaf	T	A	4: 6,416,662 (GRCm39)	I544F	possibly damaging	Het
Oas3	T	C	5: 120,899,284 (GRCm39)	D763G	unknown	Het
Or2a20	G	A	6: 43,194,258 (GRCm39)	W137*	probably null	Het
Or4s2	T	A	2: 88,473,310 (GRCm39)	F66L	probably benign	Het
Or51r1	A	T	7: 102,227,861 (GRCm39)	D53V	probably damaging	Het
Or5al6	C	T	2: 85,976,251 (GRCm39)	V276M	probably damaging	Het
Or5aq1	T	A	2: 86,965,783 (GRCm39)	N294I	probably damaging	Het
Or5k15	A	T	16: 58,710,265 (GRCm39)	L106Q	probably damaging	Het
Or5t17	T	C	2: 86,832,487 (GRCm39)	V58A	probably benign	Het
Pcdh7	T	C	5: 57,879,622 (GRCm39)		probably null	Het
Pitx3	A	G	19: 46,124,660 (GRCm39)	S236P	possibly damaging	Het
Plscr5	T	A	9: 92,087,502 (GRCm39)	I157N	probably damaging	Het
Potefam1	T	C	2: 111,000,008 (GRCm39)	M201V	unknown	Het
Preb	T	C	5: 31,116,732 (GRCm39)	N54D	probably benign	Het
Pskh1	C	T	8: 106,656,404 (GRCm39)	A360V	possibly damaging	Het
Ptprk	T	C	10: 28,139,608 (GRCm39)	L111S	possibly damaging	Het
Reln	T	A	5: 22,152,525 (GRCm39)	I2314F	probably damaging	Het
Siglecg	A	G	7: 43,067,476 (GRCm39)	D681G	probably damaging	Het
Snx5	A	G	2: 144,096,716 (GRCm39)	V283A	probably benign	Het
Srpk2	C	A	5: 23,880,874 (GRCm39)		probably benign	Het
Tacr1	T	C	6: 82,469,619 (GRCm39)	Y168H	possibly damaging	Het
Tal1	G	T	4: 114,920,557 (GRCm39)	R77L	probably benign	Het
Tdrd12	T	C	7: 35,185,964 (GRCm39)		probably null	Het
Tdrd7	A	T	4: 45,994,310 (GRCm39)	N236I	possibly damaging	Het
Tdrd9	T	C	12: 112,009,130 (GRCm39)	F1012S	probably damaging	Het
Tekt2	C	T	4: 126,217,444 (GRCm39)	R207H	probably damaging	Het
Tert	T	A	13: 73,784,609 (GRCm39)	L685Q	probably damaging	Het
Th	T	G	7: 142,448,851 (GRCm39)	D342A	probably damaging	Het
Tpsg1	G	T	17: 25,591,492 (GRCm39)	V31L	probably damaging	Het
Traf3ip1	C	G	1: 91,439,095 (GRCm39)	S337*	probably null	Het
Trpv6	A	G	6: 41,600,003 (GRCm39)	F551S	probably damaging	Het
Urah	A	G	7: 140,415,531 (GRCm39)	N23D	probably benign	Het
Vangl1	A	C	3: 102,072,669 (GRCm39)		probably null	Het
Zc3h6	A	G	2: 128,859,155 (GRCm39)	E1062G	probably benign	Het
Zfp37	A	T	4: 62,110,644 (GRCm39)	V181E	possibly damaging	Het
Zfp638	T	A	6: 83,921,795 (GRCm39)	S641T	probably benign	Het
Zkscan16	A	T	4: 58,957,473 (GRCm39)	H585L	possibly damaging	Het

Other mutations in Fam161a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01099:Fam161a	APN	11	22,965,894 (GRCm39)	unclassified	probably benign
IGL01457:Fam161a	APN	11	22,970,702 (GRCm39)	nonsense	probably null
IGL01823:Fam161a	APN	11	22,965,785 (GRCm39)	missense	probably damaging	1.00
IGL02111:Fam161a	APN	11	22,970,026 (GRCm39)	missense	probably benign	0.05
3-1:Fam161a	UTSW	11	22,973,429 (GRCm39)	critical splice acceptor site	probably null
R0531:Fam161a	UTSW	11	22,970,298 (GRCm39)	missense	possibly damaging	0.49
R1524:Fam161a	UTSW	11	22,965,826 (GRCm39)	missense	possibly damaging	0.80
R1550:Fam161a	UTSW	11	22,970,470 (GRCm39)	missense	possibly damaging	0.58
R1599:Fam161a	UTSW	11	22,971,093 (GRCm39)	missense	probably benign	0.43
R3744:Fam161a	UTSW	11	22,970,410 (GRCm39)	missense	probably damaging	1.00
R3962:Fam161a	UTSW	11	22,973,507 (GRCm39)	missense	possibly damaging	0.82
R4352:Fam161a	UTSW	11	22,970,798 (GRCm39)	missense	possibly damaging	0.90
R4607:Fam161a	UTSW	11	22,970,710 (GRCm39)	missense	probably benign	0.03
R4820:Fam161a	UTSW	11	22,970,076 (GRCm39)	missense	probably damaging	1.00
R5057:Fam161a	UTSW	11	22,970,397 (GRCm39)	missense	probably damaging	1.00
R5207:Fam161a	UTSW	11	22,970,583 (GRCm39)	nonsense	probably null
R5645:Fam161a	UTSW	11	22,965,725 (GRCm39)	missense	probably damaging	1.00
R5705:Fam161a	UTSW	11	22,978,869 (GRCm39)	missense	unknown
R7107:Fam161a	UTSW	11	22,973,452 (GRCm39)	missense	possibly damaging	0.84
R7203:Fam161a	UTSW	11	22,971,664 (GRCm39)	splice site	probably null
R7242:Fam161a	UTSW	11	22,970,037 (GRCm39)	missense	possibly damaging	0.81
R7286:Fam161a	UTSW	11	22,970,001 (GRCm39)	missense	possibly damaging	0.58
R7483:Fam161a	UTSW	11	22,971,006 (GRCm39)	missense	probably damaging	0.99
R8027:Fam161a	UTSW	11	22,970,125 (GRCm39)	missense	probably damaging	0.99
R8878:Fam161a	UTSW	11	22,970,092 (GRCm39)	missense	probably benign	0.16
R9375:Fam161a	UTSW	11	22,970,661 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGTGTTTCTTCAAAACCTGGG -3'
(R):5'- TTGGTGGACTGGATGAAGCC -3'

Sequencing Primer
(F):5'- TCTTGCCAGTCTAGAAAAGGAACTG -3'
(R):5'- CGCCCCAGAAACATCATGTCTTG -3'

Posted On

2022-11-14