Mutagenetix > Incidental Mutation

Incidental Mutation 'R5207:Fam161a'

402093

Institutional Source

Beutler Lab

Gene Symbol

Fam161a

Ensembl Gene

ENSMUSG00000049811

Gene Name

family with sequence similarity 161, member A

Synonyms

4930430E16Rik

MMRRC Submission

042782-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5207 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

22957531-22980788 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 22970583 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 195 (K195*)

Gene Model

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

AlphaFold

Q8QZV6

Predicted Effect

probably null
Transcript: ENSMUST00000058269
AA Change: K254*

SMART Domains

Protein: ENSMUSP00000063091
Gene: ENSMUSG00000049811
AA Change: K254*

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 null
Transcript: ENSMUST00000094363
AA Change: K38*

SMART Domains

Protein: ENSMUSP00000091923
Gene: ENSMUSG00000049811
AA Change: K38*

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

Predicted Effect

probably null
Transcript: ENSMUST00000109557
AA Change: K254*

SMART Domains

Protein: ENSMUSP00000105184
Gene: ENSMUSG00000049811
AA Change: K254*

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

probably null
Transcript: ENSMUST00000151877
AA Change: K10*

SMART Domains

Protein: ENSMUSP00000121167
Gene: ENSMUSG00000049811
AA Change: K10*

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

Predicted Effect

probably null
Transcript: ENSMUST00000172602
AA Change: K254*

SMART Domains

Protein: ENSMUSP00000134485
Gene: ENSMUSG00000049811
AA Change: K254*

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 null
Transcript: ENSMUST00000208732
AA Change: K195*

Meta Mutation Damage Score

0.9750

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

97% (60/62)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahctf1	A	T	1: 179,621,159 (GRCm39)		probably benign	Het
Alg6	C	T	4: 99,607,431 (GRCm39)	L15F	possibly damaging	Het
Allc	T	A	12: 28,605,325 (GRCm39)	M325L	probably benign	Het
Ap3b2	T	C	7: 81,126,517 (GRCm39)	N361S	possibly damaging	Het
Bmp8b	A	G	4: 123,009,714 (GRCm39)		probably benign	Het
Borcs6	A	T	11: 68,951,674 (GRCm39)	T351S	probably damaging	Het
Ccar1	T	C	10: 62,589,060 (GRCm39)	R808G	unknown	Het
Celsr3	A	T	9: 108,709,958 (GRCm39)	T1480S	probably benign	Het
Chdh	C	T	14: 29,753,318 (GRCm39)	P76S	probably damaging	Het
Chmp7	T	C	14: 69,969,755 (GRCm39)	S62G	probably benign	Het
Cldn23	A	T	8: 36,293,182 (GRCm39)	V102E	probably damaging	Het
Csn2	G	A	5: 87,842,821 (GRCm39)	Q69*	probably null	Het
Ctrc	A	C	4: 141,567,695 (GRCm39)	I136S	probably damaging	Het
Cysltr2	A	C	14: 73,266,951 (GRCm39)	L253R	probably damaging	Het
Ddr2	G	A	1: 169,812,530 (GRCm39)	T654M	probably damaging	Het
Derl2	G	T	11: 70,910,073 (GRCm39)		probably null	Het
Dnai7	A	T	6: 145,124,794 (GRCm39)	D510E	probably damaging	Het
Dock5	T	C	14: 68,013,733 (GRCm39)	S1330G	probably benign	Het
Emp3	T	C	7: 45,569,373 (GRCm39)	N56S	probably benign	Het
Ficd	T	A	5: 113,875,072 (GRCm39)	V47E	probably benign	Het
Garin3	T	C	11: 46,295,990 (GRCm39)	S121P	probably benign	Het
Gbp10	T	C	5: 105,372,575 (GRCm39)	T123A	probably benign	Het
Gdf7	C	T	12: 8,348,371 (GRCm39)	A309T	unknown	Het
Gm14486	G	T	2: 30,548,572 (GRCm39)		noncoding transcript	Het
Herc1	T	A	9: 66,307,151 (GRCm39)	C990*	probably null	Het
Itgb4	T	C	11: 115,897,365 (GRCm39)	V1530A	probably damaging	Het
Itpka	G	A	2: 119,580,974 (GRCm39)	R374H	probably damaging	Het
Lacc1	T	A	14: 77,271,594 (GRCm39)		probably null	Het
Med23	A	T	10: 24,771,734 (GRCm39)	K225*	probably null	Het
Mrgpra3	T	A	7: 47,239,909 (GRCm39)	T6S	probably benign	Het
Mroh7	T	A	4: 106,578,583 (GRCm39)	N32Y	probably damaging	Het
Mrps2	A	G	2: 28,359,763 (GRCm39)	R207G	probably damaging	Het
Mup20	A	C	4: 61,969,823 (GRCm39)		probably null	Het
Nagpa	A	G	16: 5,017,478 (GRCm39)		probably null	Het
Nek3	A	T	8: 22,622,243 (GRCm39)		probably benign	Het
Nes	G	A	3: 87,885,935 (GRCm39)	G1398E	probably damaging	Het
Nf1	G	T	11: 79,345,015 (GRCm39)	V1323L	probably damaging	Het
Or5b96	T	A	19: 12,867,801 (GRCm39)	I47F	probably benign	Het
Or6b2	A	T	1: 92,407,594 (GRCm39)	F250I	probably benign	Het
Or6c2	T	C	10: 129,362,773 (GRCm39)	F226L	probably benign	Het
Paqr8	G	T	1: 21,005,482 (GRCm39)	C212F	probably benign	Het
Pcdhb1	T	C	18: 37,399,515 (GRCm39)	Y489H	probably damaging	Het
Piwil2	T	C	14: 70,629,966 (GRCm39)	K683E	probably damaging	Het
Pjvk	A	C	2: 76,480,734 (GRCm39)		probably null	Het
Pkd1l3	A	T	8: 110,359,823 (GRCm39)	S893C	probably damaging	Het
Plxna2	A	G	1: 194,471,207 (GRCm39)	T993A	probably benign	Het
Ppp2r2b	A	T	18: 42,821,417 (GRCm39)	I247N	probably damaging	Het
Rac2	T	C	15: 78,449,654 (GRCm39)	N92S	probably damaging	Het
Senp2	A	T	16: 21,860,130 (GRCm39)	H501L	possibly damaging	Het
Snx29	A	T	16: 11,556,227 (GRCm39)	I753F	probably damaging	Het
Tcf20	T	A	15: 82,740,386 (GRCm39)	H355L	probably damaging	Het
Tex2	T	C	11: 106,437,666 (GRCm39)	D668G	unknown	Het
Tlr12	G	A	4: 128,510,502 (GRCm39)	Q583*	probably null	Het
Tmem119	T	C	5: 113,933,289 (GRCm39)	I171V	probably damaging	Het
Ube2m	C	T	7: 12,770,249 (GRCm39)		probably null	Het
Vmn2r25	A	T	6: 123,817,062 (GRCm39)	I173N	probably damaging	Het
Whrn	A	T	4: 63,350,951 (GRCm39)	V15E	probably damaging	Het
Zfp558	A	C	9: 18,368,296 (GRCm39)	V164G	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
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
R9745:Fam161a	UTSW	11	22,973,495 (GRCm39)	missense	possibly damaging	0.73

Predicted Primers

PCR Primer
(F):5'- CGGTCAGATCTGGAAACAAAGC -3'
(R):5'- GCCAAGGCGAATTCTGTAAC -3'

Sequencing Primer
(F):5'- GTCAGATCTGGAAACAAAGCTGCTC -3'
(R):5'- GTAACAGATCTCTGACCTTTGGCAG -3'

Posted On

2016-07-22