Mutagenetix > Incidental Mutation

Incidental Mutation 'R7107:Fam161a'

551260

Institutional Source

Beutler Lab

Gene Symbol

Fam161a

Ensembl Gene

ENSMUSG00000049811

Gene Name

family with sequence similarity 161, member A

Synonyms

4930430E16Rik

MMRRC Submission

045199-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7107 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

22957531-22980788 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 22973452 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 445 (R445G)

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: R445G

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000063091
Gene: ENSMUSG00000049811
AA Change: R445G

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: R445G

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000105184
Gene: ENSMUSG00000049811
AA Change: R445G

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 damaging
Transcript: ENSMUST00000151877
AA Change: R257G

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000121167
Gene: ENSMUSG00000049811
AA Change: R257G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000172602
AA Change: R445G

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000134485
Gene: ENSMUSG00000049811
AA Change: R445G

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (78/79)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	G	11: 109,867,299 (GRCm39)	L253S	probably damaging	Het
Adgrv1	T	C	13: 81,726,261 (GRCm39)	E588G	probably benign	Het
Ahcy	G	A	2: 154,910,893 (GRCm39)	A25V	probably damaging	Het
Ank2	A	C	3: 126,797,631 (GRCm39)	L710R	probably damaging	Het
Ap1b1	A	G	11: 4,989,558 (GRCm39)	T824A	probably benign	Het
Arap2	T	A	5: 62,763,551 (GRCm39)	H1531L	probably damaging	Het
Atosb	A	T	4: 43,036,434 (GRCm39)	V99E	probably benign	Het
B3gnt7	T	C	1: 86,233,495 (GRCm39)	L247P	probably damaging	Het
Bcl6b	A	G	11: 70,117,396 (GRCm39)	C409R	probably damaging	Het
Bicdl1	T	C	5: 115,808,229 (GRCm39)	H301R	probably benign	Het
Casc3	T	A	11: 98,718,413 (GRCm39)	I491N	possibly damaging	Het
Ccdc92b	T	A	11: 74,520,887 (GRCm39)	L63Q	probably damaging	Het
Cep250	A	G	2: 155,837,314 (GRCm39)	T2319A	probably benign	Het
Chd1	T	C	17: 15,981,628 (GRCm39)	S1356P	probably damaging	Het
Chd8	A	G	14: 52,450,129 (GRCm39)	S1542P	probably benign	Het
Clec2m	A	G	6: 129,299,915 (GRCm39)	C188R	probably damaging	Het
Cntnap4	A	G	8: 113,542,120 (GRCm39)	D751G	probably damaging	Het
Cpsf4l	G	A	11: 113,593,315 (GRCm39)	R90C	possibly damaging	Het
Defa21	G	A	8: 21,515,724 (GRCm39)	A41T	probably damaging	Het
Dennd4a	G	T	9: 64,801,681 (GRCm39)	L941F	possibly damaging	Het
Dnah12	G	A	14: 26,500,869 (GRCm39)		probably null	Het
Dtx4	A	T	19: 12,450,624 (GRCm39)	C529*	probably null	Het
Entpd3	A	G	9: 120,389,665 (GRCm39)	Y317C	probably damaging	Het
Erp29	T	A	5: 121,583,381 (GRCm39)	I182F	possibly damaging	Het
Fam76a	T	A	4: 132,631,232 (GRCm39)	M238L	possibly damaging	Het
Fn1	T	C	1: 71,666,408 (GRCm39)	Y875C	probably damaging	Het
Gnb2	A	G	5: 137,528,444 (GRCm39)		probably null	Het
Hspg2	T	C	4: 137,237,963 (GRCm39)	S229P	probably damaging	Het
Ighv6-6	A	G	12: 114,398,590 (GRCm39)	S59P	probably damaging	Het
Itpkc	C	A	7: 26,927,702 (GRCm39)	A71S	probably benign	Het
Kcnk10	G	A	12: 98,485,002 (GRCm39)	R45*	probably null	Het
Krcc1	A	G	6: 71,261,198 (GRCm39)	S77G	probably benign	Het
Lelp1	G	A	3: 92,042,821 (GRCm39)	T76I	unknown	Het
Lifr	A	T	15: 7,208,421 (GRCm39)	I600F	possibly damaging	Het
Lrrk1	T	A	7: 65,937,191 (GRCm39)	D987V	possibly damaging	Het
Muc16	C	T	9: 18,548,594 (GRCm39)	D5900N	probably benign	Het
Muc6	AGGCGCAGAAACCCTGGC	AGGC	7: 141,214,363 (GRCm39)		probably null	Het
Myo9a	A	G	9: 59,778,098 (GRCm39)	I1285V	probably benign	Het
Ndel1	T	C	11: 68,713,474 (GRCm39)	D321G	possibly damaging	Het
Nlrp4b	T	C	7: 10,449,144 (GRCm39)	V449A	probably damaging	Het
Or10q12	A	G	19: 13,746,525 (GRCm39)	E273G	probably benign	Het
Or2r11	T	C	6: 42,437,488 (GRCm39)	N155S	possibly damaging	Het
Or2y1c	T	A	11: 49,361,261 (GRCm39)	Y94*	probably null	Het
Or51k1	A	T	7: 103,661,489 (GRCm39)	L140Q	probably benign	Het
Or5k3	A	C	16: 58,969,279 (GRCm39)	D22A	probably benign	Het
Osbpl1a	G	A	18: 12,974,310 (GRCm39)	R459*	probably null	Het
Pabpc1l	A	C	2: 163,884,399 (GRCm39)	T379P	probably damaging	Het
Pde2a	A	T	7: 101,071,175 (GRCm39)	Q15L	probably benign	Het
Pdk1	A	G	2: 71,726,085 (GRCm39)	N331S	probably benign	Het
Pfdn1	A	T	18: 36,584,519 (GRCm39)		probably null	Het
Pnliprp1	T	A	19: 58,717,582 (GRCm39)	L9H	probably damaging	Het
Prl7a2	A	T	13: 27,843,076 (GRCm39)	D242E	possibly damaging	Het
Prmt9	T	A	8: 78,294,880 (GRCm39)	I408N	possibly damaging	Het
Psme4	G	A	11: 30,798,105 (GRCm39)	R1366H	probably benign	Het
Pstpip1	A	T	9: 56,035,934 (GRCm39)	D393V	probably damaging	Het
Rab5b	A	G	10: 128,519,062 (GRCm39)		probably null	Het
Rap1gap2	G	A	11: 74,283,945 (GRCm39)	R618C	probably damaging	Het
Rin1	A	G	19: 5,100,801 (GRCm39)		probably benign	Het
Sall3	G	A	18: 81,016,969 (GRCm39)	P320S	probably benign	Het
Sdk1	A	G	5: 142,067,471 (GRCm39)	T1124A	probably damaging	Het
Sirpb1c	T	A	3: 15,892,941 (GRCm39)	T88S	possibly damaging	Het
Slc35f6	T	A	5: 30,814,121 (GRCm39)	I189N	probably damaging	Het
Slc49a3	T	A	5: 108,596,581 (GRCm39)		probably null	Het
Spata31d1e	T	A	13: 59,889,997 (GRCm39)	R608*	probably null	Het
Spsb2	A	T	6: 124,787,244 (GRCm39)	Q226L	probably benign	Het
Stab2	T	C	10: 86,741,456 (GRCm39)	D1221G	possibly damaging	Het
Sugp1	G	A	8: 70,522,800 (GRCm39)	R500H	probably benign	Het
Syne1	A	G	10: 5,082,078 (GRCm39)	Y849H	probably damaging	Het
Tbck	T	A	3: 132,428,092 (GRCm39)	I249N	possibly damaging	Het
Tdrd6	A	C	17: 43,935,095 (GRCm39)	F1984L	probably benign	Het
Tnxb	T	A	17: 34,890,314 (GRCm39)	V219E	unknown	Het
Tpst1	T	A	5: 130,143,344 (GRCm39)	V294D	probably damaging	Het
Treml1	A	G	17: 48,667,247 (GRCm39)	Q44R	probably damaging	Het
Trrap	G	A	5: 144,733,945 (GRCm39)	A933T	probably benign	Het
Vars2	A	G	17: 35,969,142 (GRCm39)	L853P	probably damaging	Het
Vmn1r10	A	T	6: 57,090,615 (GRCm39)	N69I	possibly damaging	Het
Vmn1r179	T	A	7: 23,627,819 (GRCm39)	Y3*	probably null	Het
Vmn2r38	T	A	7: 9,093,728 (GRCm39)	Y498F	probably benign	Het
Zc3h11a	T	C	1: 133,566,655 (GRCm39)	T179A	probably damaging	Het
Zmym2	A	G	14: 57,140,169 (GRCm39)	T3A	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
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
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'- AGGGCAGTACACTGTGTTTC -3'
(R):5'- CCCAGAAACATCATGTCTTGGC -3'

Sequencing Primer
(F):5'- ACACTGTGTTTCTTCAAAACCTGGG -3'
(R):5'- TCTTGGCAACTGTAGGACAC -3'

Posted On

2019-05-15