Mutagenetix > Incidental Mutation

Incidental Mutation 'R1524:Fam161a'

167729

Institutional Source

Beutler Lab

Gene Symbol

Fam161a

Ensembl Gene

ENSMUSG00000049811

Gene Name

family with sequence similarity 161, member A

Synonyms

4930430E16Rik

MMRRC Submission

039565-MU

Accession Numbers

Genbank: NM_028672; MGI: 1921123

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1524 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23007531-23030788 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23015826 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 40 (N40D)

Ref Sequence

ENSEMBL: ENSMUSP00000134485 (fasta)

Gene Model

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

AlphaFold

Q8QZV6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000058269
AA Change: N40D

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000063091
Gene: ENSMUSG00000049811
AA Change: N40D

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: N40D

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000105184
Gene: ENSMUSG00000049811
AA Change: N40D

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

SMART Domains

Protein: ENSMUSP00000121167
Gene: ENSMUSG00000049811

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000172602
AA Change: N40D

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000134485
Gene: ENSMUSG00000049811
AA Change: N40D

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

possibly damaging
Transcript: ENSMUST00000173923
AA Change: N40D

PolyPhen 2 Score 0.748 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000133293
Gene: ENSMUSG00000049811
AA Change: N40D

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 benign
Transcript: ENSMUST00000208732

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

97% (68/70)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	G	T	5: 87,971,689	V102L	probably benign	Het
Adck1	T	C	12: 88,402,084	Y111H	probably damaging	Het
Adcy10	G	T	1: 165,518,403	K340N	probably damaging	Het
Aebp1	T	C	11: 5,870,089	V355A	probably damaging	Het
Atp2b2	T	C	6: 113,774,201		probably benign	Het
Atrn	T	C	2: 130,957,080	V390A	probably benign	Het
Bpifc	T	A	10: 85,977,735	Q315L	probably benign	Het
C1qtnf6	T	G	15: 78,524,892		probably null	Het
Cab39l	A	G	14: 59,519,737		probably benign	Het
Capn12	T	A	7: 28,882,764		probably benign	Het
Ceacam18	A	C	7: 43,639,355	T177P	possibly damaging	Het
Ces5a	A	T	8: 93,525,665	F200I	probably damaging	Het
Cldn19	G	T	4: 119,257,051		probably null	Het
Cntnap2	A	G	6: 46,530,679	S46P	probably damaging	Het
Dchs1	A	G	7: 105,764,525	Y1028H	probably damaging	Het
Exd1	A	T	2: 119,524,674	F253L	probably damaging	Het
Fam81a	A	T	9: 70,125,108	I34N	probably damaging	Het
Fchsd1	A	C	18: 37,965,897		probably null	Het
Fut11	T	A	14: 20,696,166	F359I	possibly damaging	Het
Fut7	T	C	2: 25,425,147	V92A	probably damaging	Het
Grid2	C	G	6: 64,429,754	F699L	possibly damaging	Het
Grin2a	A	G	16: 9,663,603	S445P	possibly damaging	Het
H2al2b	A	C	Y: 2,720,391	F95C	probably damaging	Het
Hecw2	T	C	1: 53,851,618	D1246G	probably damaging	Het
Ifit1	A	G	19: 34,647,632	N56S	probably damaging	Het
Ldb3	C	A	14: 34,555,356	V354L	probably benign	Het
Lrig2	T	C	3: 104,463,876	Y479C	probably benign	Het
Ltn1	A	G	16: 87,381,556	V1595A	probably damaging	Het
Macf1	A	G	4: 123,432,530	V2939A	possibly damaging	Het
Mapre3	T	G	5: 30,861,917	I35S	probably damaging	Het
Med16	A	T	10: 79,898,316	L588Q	probably damaging	Het
Ncapg2	T	C	12: 116,434,578		probably benign	Het
Ncstn	C	A	1: 172,072,149	R322L	possibly damaging	Het
Ndst1	A	T	18: 60,698,504	I594N	probably damaging	Het
Ndst3	A	G	3: 123,548,906	I752T	possibly damaging	Het
Obscn	G	T	11: 59,115,855	S1185R	probably damaging	Het
Olfr1466	T	A	19: 13,342,122	C121*	probably null	Het
Olfr1500	A	T	19: 13,828,315	L27H	probably damaging	Het
Olfr303	A	G	7: 86,394,812	S229P	probably benign	Het
Otof	T	A	5: 30,379,556	D1285V	probably benign	Het
Pcnx2	A	G	8: 125,891,141	I125T	probably benign	Het
Pde4a	T	C	9: 21,201,247	S240P	probably damaging	Het
Pi15	T	C	1: 17,619,852	S126P	probably benign	Het
Pkhd1	T	C	1: 20,117,780	S3435G	probably damaging	Het
Plin1	C	A	7: 79,726,590	V133L	probably benign	Het
Pnpt1	T	A	11: 29,130,776	C7S	unknown	Het
Ppp3ca	A	T	3: 136,797,818	M51L	probably benign	Het
Primpol	G	T	8: 46,586,467		probably benign	Het
Prlr	T	C	15: 10,319,333	V116A	probably damaging	Het
Rnf139	A	G	15: 58,889,417	D35G	probably damaging	Het
Rsbn1l	T	A	5: 20,951,673	K38M	probably damaging	Het
Ryr3	T	A	2: 112,869,082	I888F	probably damaging	Het
Sec16a	C	A	2: 26,428,382	V1566F	probably damaging	Het
Sin3b	A	G	8: 72,753,287	T874A	probably benign	Het
Slc5a5	A	C	8: 70,892,334	Y110D	probably damaging	Het
Smarcd2	C	T	11: 106,267,152	V97I	probably benign	Het
St6galnac2	G	A	11: 116,684,487		probably benign	Het
Tbc1d22b	T	C	17: 29,570,611	L149P	probably damaging	Het
Tekt2	T	C	4: 126,323,649	I208V	probably benign	Het
Tenm3	A	G	8: 48,228,981	I2522T	possibly damaging	Het
Ttc37	T	A	13: 76,138,372	D891E	probably benign	Het
Ttll5	T	A	12: 85,864,568	Y233*	probably null	Het
Vcpip1	C	T	1: 9,724,502	E1215K	probably damaging	Het
Wdr4	T	C	17: 31,509,763		probably benign	Het
Zadh2	A	G	18: 84,094,706	E169G	probably benign	Het
Zfp703	G	A	8: 26,979,373	G355D	probably damaging	Het
Zfp830	T	A	11: 82,764,968	D199E	probably damaging	Het

Other mutations in Fam161a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01099:Fam161a	APN	11	23015894	unclassified	probably benign
IGL01457:Fam161a	APN	11	23020702	nonsense	probably null
IGL01823:Fam161a	APN	11	23015785	missense	probably damaging	1.00
IGL02111:Fam161a	APN	11	23020026	missense	probably benign	0.05
3-1:Fam161a	UTSW	11	23023429	critical splice acceptor site	probably null
R0531:Fam161a	UTSW	11	23020298	missense	possibly damaging	0.49
R1550:Fam161a	UTSW	11	23020470	missense	possibly damaging	0.58
R1599:Fam161a	UTSW	11	23021093	missense	probably benign	0.43
R3744:Fam161a	UTSW	11	23020410	missense	probably damaging	1.00
R3962:Fam161a	UTSW	11	23023507	missense	possibly damaging	0.82
R4352:Fam161a	UTSW	11	23020798	missense	possibly damaging	0.90
R4607:Fam161a	UTSW	11	23020710	missense	probably benign	0.03
R4820:Fam161a	UTSW	11	23020076	missense	probably damaging	1.00
R5057:Fam161a	UTSW	11	23020397	missense	probably damaging	1.00
R5207:Fam161a	UTSW	11	23020583	nonsense	probably null
R5645:Fam161a	UTSW	11	23015725	missense	probably damaging	1.00
R5705:Fam161a	UTSW	11	23028869	missense	unknown
R7107:Fam161a	UTSW	11	23023452	missense	possibly damaging	0.84
R7203:Fam161a	UTSW	11	23021664	splice site	probably null
R7242:Fam161a	UTSW	11	23020037	missense	possibly damaging	0.81
R7286:Fam161a	UTSW	11	23020001	missense	possibly damaging	0.58
R7483:Fam161a	UTSW	11	23021006	missense	probably damaging	0.99
R8027:Fam161a	UTSW	11	23020125	missense	probably damaging	0.99
R8878:Fam161a	UTSW	11	23020092	missense	probably benign	0.16
R9375:Fam161a	UTSW	11	23020661	missense	probably damaging	1.00
R9745:Fam161a	UTSW	11	23023495	missense	possibly damaging	0.73

Predicted Primers

PCR Primer
(F):5'- CAGGGTTCTCTTCACATCAGGCAG -3'
(R):5'- AAGATCATGTTTCAAAATTGGGCCAGC -3'

Sequencing Primer
(F):5'- TCACATCAGGCAGGTTGTCAC -3'
(R):5'- gacatacacacaagcaaaacac -3'

Posted On

2014-04-13