Mutagenetix > Incidental Mutation

Incidental Mutation 'R1599:Fam161a'

176053

Institutional Source

Beutler Lab

Gene Symbol

Fam161a

Ensembl Gene

ENSMUSG00000049811

Gene Name

family with sequence similarity 161, member A

Synonyms

4930430E16Rik

MMRRC Submission

039636-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1599 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

22957531-22980788 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 22971093 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 180 (M180L)

Ref Sequence

ENSEMBL: ENSMUSP00000121167 (fasta)

Gene Model

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

AlphaFold

Q8QZV6

Predicted Effect

probably benign
Transcript: ENSMUST00000058269
AA Change: M424L

PolyPhen 2 Score 0.307 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000063091
Gene: ENSMUSG00000049811
AA Change: M424L

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

unknown
Transcript: ENSMUST00000094363
AA Change: M208L

SMART Domains

Protein: ENSMUSP00000091923
Gene: ENSMUSG00000049811
AA Change: M208L

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 benign
Transcript: ENSMUST00000109557
AA Change: M424L

PolyPhen 2 Score 0.307 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000105184
Gene: ENSMUSG00000049811
AA Change: M424L

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 benign
Transcript: ENSMUST00000151877
AA Change: M180L

PolyPhen 2 Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000121167
Gene: ENSMUSG00000049811
AA Change: M180L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000172602
AA Change: M424L

PolyPhen 2 Score 0.307 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000134485
Gene: ENSMUSG00000049811
AA Change: M424L

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

unknown
Transcript: ENSMUST00000208732
AA Change: M365L

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.2%
20x: 88.9%

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
2700049A03Rik	A	G	12: 71,197,033 (GRCm39)	E202G	probably damaging	Het
Adam23	A	G	1: 63,610,092 (GRCm39)	D698G	possibly damaging	Het
Adam3	T	C	8: 25,215,377 (GRCm39)	D20G	possibly damaging	Het
Adamts12	T	C	15: 11,071,797 (GRCm39)	S114P	probably damaging	Het
Adgrg6	T	A	10: 14,343,057 (GRCm39)	R297*	probably null	Het
Ahdc1	A	T	4: 132,792,247 (GRCm39)	S1163C	possibly damaging	Het
Axl	A	G	7: 25,463,394 (GRCm39)	Y619H	probably damaging	Het
Bcl11a	G	T	11: 24,113,887 (GRCm39)	C410F	probably damaging	Het
Brca2	C	A	5: 150,472,178 (GRCm39)	S2359*	probably null	Het
Calca	A	G	7: 114,233,707 (GRCm39)	S75P	probably damaging	Het
Ccn2	A	T	10: 24,473,297 (GRCm39)	R279W	probably benign	Het
Ccpg1	T	A	9: 72,906,407 (GRCm39)	Y54*	probably null	Het
Cfap161	A	T	7: 83,425,287 (GRCm39)	M268K	possibly damaging	Het
Cfap61	T	A	2: 145,854,083 (GRCm39)	V365E	probably benign	Het
Cgnl1	T	C	9: 71,548,709 (GRCm39)	I1000V	probably benign	Het
Chd2	A	T	7: 73,122,799 (GRCm39)	D978E	probably benign	Het
Cyth1	G	A	11: 118,068,047 (GRCm39)	T297M	probably damaging	Het
Dennd1b	T	G	1: 139,095,468 (GRCm39)	D505E	probably benign	Het
Dgkd	A	G	1: 87,809,608 (GRCm39)	T99A	possibly damaging	Het
Gar1	G	T	3: 129,624,253 (GRCm39)	R80S	probably benign	Het
Gm28042	T	C	2: 119,866,944 (GRCm39)	S419P	probably benign	Het
Gm5591	A	C	7: 38,219,794 (GRCm39)	C360G	probably benign	Het
Golga2	A	G	2: 32,193,185 (GRCm39)	H427R	probably benign	Het
Gpt2	A	G	8: 86,238,863 (GRCm39)	Y232C	probably damaging	Het
Hnrnpll	T	A	17: 80,361,054 (GRCm39)	H118L	unknown	Het
Ice2	T	A	9: 69,318,724 (GRCm39)	C303S	probably null	Het
Ikzf3	C	A	11: 98,357,919 (GRCm39)	G473C	probably damaging	Het
Kansl3	A	T	1: 36,406,951 (GRCm39)	D38E	probably damaging	Het
Kcna6	A	T	6: 126,716,282 (GRCm39)	D202E	probably benign	Het
Klhl21	G	A	4: 152,096,757 (GRCm39)	G341D	probably damaging	Het
Klhl29	A	T	12: 5,143,538 (GRCm39)	V497D	probably damaging	Het
Kmt2b	G	A	7: 30,270,000 (GRCm39)	L2449F	probably damaging	Het
Kmt5c	A	G	7: 4,744,899 (GRCm39)	E10G	probably damaging	Het
Lama3	C	T	18: 12,583,457 (GRCm39)	Q682*	probably null	Het
Lamb3	T	C	1: 193,002,801 (GRCm39)	V82A	probably damaging	Het
Larp4b	C	T	13: 9,172,186 (GRCm39)	T2I	probably damaging	Het
Man2a1	T	C	17: 64,986,826 (GRCm39)	Y613H	possibly damaging	Het
Mcm3	G	A	1: 20,890,422 (GRCm39)	T4I	probably benign	Het
Mki67	C	T	7: 135,301,663 (GRCm39)	A1124T	probably benign	Het
Mlh3	A	T	12: 85,315,143 (GRCm39)	L348I	probably damaging	Het
Mmrn1	G	A	6: 60,922,021 (GRCm39)	M159I	probably benign	Het
Muc5ac	A	T	7: 141,352,640 (GRCm39)	Q709L	possibly damaging	Het
Naip2	C	T	13: 100,298,489 (GRCm39)	A516T	possibly damaging	Het
Nosip	A	G	7: 44,723,430 (GRCm39)	N32S	probably benign	Het
Npat	T	C	9: 53,473,704 (GRCm39)	Y499H	possibly damaging	Het
Nt5c1b	T	A	12: 10,440,024 (GRCm39)	I522N	probably damaging	Het
Or1j18	G	T	2: 36,625,001 (GRCm39)	V223F	probably benign	Het
Or2r3	T	A	6: 42,448,176 (GRCm39)	K312M	probably damaging	Het
Or52d3	A	G	7: 104,228,855 (GRCm39)	M1V	probably null	Het
Or7g32	T	A	9: 19,389,517 (GRCm39)	T7S	probably damaging	Het
Pappa2	A	G	1: 158,684,742 (GRCm39)	F799S	probably damaging	Het
Pate5	T	C	9: 35,750,333 (GRCm39)	N113S	probably benign	Het
Pcdha1	C	T	18: 37,318,290 (GRCm39)	T941M	probably damaging	Het
Pilrb2	A	T	5: 137,866,859 (GRCm39)	F215I	possibly damaging	Het
Pkd1l3	G	T	8: 110,363,016 (GRCm39)	M1092I	probably benign	Het
Ppp1r21	G	T	17: 88,880,055 (GRCm39)	V491L	probably benign	Het
Prickle2	T	C	6: 92,387,855 (GRCm39)	T516A	probably benign	Het
Prr27	G	T	5: 87,991,084 (GRCm39)	R232L	probably benign	Het
Rab3gap2	C	T	1: 184,983,223 (GRCm39)	T454I	probably benign	Het
Rgs11	C	A	17: 26,427,223 (GRCm39)	H385N	probably damaging	Het
S1pr5	T	A	9: 21,155,230 (GRCm39)	T399S	probably benign	Het
Sacs	G	A	14: 61,441,087 (GRCm39)	M1044I	probably benign	Het
Sec31b	T	A	19: 44,511,592 (GRCm39)	Q603L	possibly damaging	Het
Setx	G	A	2: 29,030,385 (GRCm39)	E275K	probably benign	Het
Sh3tc1	G	A	5: 35,864,856 (GRCm39)	P444S	probably benign	Het
Shoc1	A	T	4: 59,072,349 (GRCm39)	N622K	possibly damaging	Het
Strn3	T	A	12: 51,699,549 (GRCm39)	N208Y	possibly damaging	Het
Tmem87a	T	C	2: 120,224,868 (GRCm39)	N131S	probably damaging	Het
Tmprss13	T	A	9: 45,249,616 (GRCm39)	W318R	probably damaging	Het
Trabd2b	T	C	4: 114,266,178 (GRCm39)	V64A	probably damaging	Het
Trafd1	A	T	5: 121,517,720 (GRCm39)	N24K	probably damaging	Het
Ttc41	T	C	10: 86,612,437 (GRCm39)	S1237P	probably benign	Het
Ttll1	A	G	15: 83,381,555 (GRCm39)	V238A	probably benign	Het
Vps50	T	C	6: 3,565,537 (GRCm39)	S492P	probably benign	Het
Zic1	T	C	9: 91,243,741 (GRCm39)	I409V	probably benign	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
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
R9745:Fam161a	UTSW	11	22,973,495 (GRCm39)	missense	possibly damaging	0.73

Predicted Primers

PCR Primer
(F):5'- AAGAGTGTTGTCTTCACGAATCCCC -3'
(R):5'- GCCAGCAGTTTCTGCAAGTCTTTC -3'

Sequencing Primer
(F):5'- TCCCCTTGTGACTCTGATAAAAGAC -3'
(R):5'- TGCCAGTTCAGCAACCAT -3'

Posted On

2014-04-24