Mutagenetix > Incidental Mutation

Incidental Mutation 'R5645:Fam161a'

441080

Institutional Source

Beutler Lab

Gene Symbol

Fam161a

Ensembl Gene

ENSMUSG00000049811

Gene Name

family with sequence similarity 161, member A

Synonyms

4930430E16Rik

MMRRC Submission

043293-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5645 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

22957531-22980788 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 22965725 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 6 (I6N)

Ref Sequence

ENSEMBL: ENSMUSP00000133293 (fasta)

Gene Model

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

AlphaFold

Q8QZV6

Predicted Effect

probably damaging
Transcript: ENSMUST00000058269
AA Change: I6N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000063091
Gene: ENSMUSG00000049811
AA Change: I6N

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

probably damaging
Transcript: ENSMUST00000109557
AA Change: I6N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105184
Gene: ENSMUSG00000049811
AA Change: I6N

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

probably damaging
Transcript: ENSMUST00000172602
AA Change: I6N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000134485
Gene: ENSMUSG00000049811
AA Change: I6N

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 damaging
Transcript: ENSMUST00000173923
AA Change: I6N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000133293
Gene: ENSMUSG00000049811
AA Change: I6N

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700102P08Rik	A	G	9: 108,274,403 (GRCm39)	I169V	probably damaging	Het
4930503B20Rik	C	T	3: 146,356,264 (GRCm39)	E215K	probably damaging	Het
Abca6	T	C	11: 110,141,234 (GRCm39)	E29G	probably damaging	Het
Acsm1	A	G	7: 119,239,920 (GRCm39)	H288R	probably damaging	Het
Adamts12	A	G	15: 11,277,506 (GRCm39)	T707A	possibly damaging	Het
Adcy2	C	A	13: 68,877,321 (GRCm39)		probably null	Het
Agbl4	A	T	4: 111,514,527 (GRCm39)	I513F	possibly damaging	Het
Ak5	A	T	3: 152,361,670 (GRCm39)	M84K	possibly damaging	Het
Akap1	T	C	11: 88,736,453 (GRCm39)	T103A	probably benign	Het
Akap9	A	G	5: 4,100,590 (GRCm39)	T2751A	probably benign	Het
Amer3	A	T	1: 34,627,462 (GRCm39)	H567L	possibly damaging	Het
Ano6	A	G	15: 95,818,232 (GRCm39)	Y325C	probably benign	Het
Apba2	A	G	7: 64,345,554 (GRCm39)	E248G	possibly damaging	Het
Asap2	T	A	12: 21,315,983 (GRCm39)	V967E	probably damaging	Het
Atosa	T	A	9: 74,932,961 (GRCm39)	V976E	probably damaging	Het
Boc	A	G	16: 44,320,024 (GRCm39)	V320A	probably damaging	Het
Car13	T	A	3: 14,710,180 (GRCm39)	Y41N	possibly damaging	Het
Ccdc162	T	C	10: 41,428,352 (GRCm39)	T1976A	probably benign	Het
Cep295	C	A	9: 15,246,404 (GRCm39)	S684I	possibly damaging	Het
Cep295	A	T	9: 15,244,090 (GRCm39)	H1455Q	probably damaging	Het
Cr2	G	T	1: 194,836,581 (GRCm39)	H861N	probably damaging	Het
Cul5	T	C	9: 53,534,243 (GRCm39)	I630V	probably benign	Het
Cyp2c37	G	A	19: 39,982,596 (GRCm39)	V145I	probably benign	Het
Dnmt1	G	A	9: 20,833,443 (GRCm39)	T500M	probably damaging	Het
Elp1	T	C	4: 56,776,920 (GRCm39)	T626A	possibly damaging	Het
Fry	T	C	5: 150,304,332 (GRCm39)	V574A	probably damaging	Het
Glb1l3	G	T	9: 26,736,122 (GRCm39)	L553I	probably benign	Het
Gm1123	T	C	9: 98,896,244 (GRCm39)	D212G	probably benign	Het
Grin2a	T	A	16: 9,810,090 (GRCm39)	D103V	probably damaging	Het
Heg1	A	G	16: 33,527,333 (GRCm39)	I98V	probably benign	Het
Hmcn2	C	A	2: 31,310,824 (GRCm39)	T3356N	possibly damaging	Het
Hpf1	T	G	8: 61,349,834 (GRCm39)	I154S	possibly damaging	Het
Ifnar2	A	G	16: 91,201,115 (GRCm39)	D452G	possibly damaging	Het
Iqcc	A	T	4: 129,510,320 (GRCm39)	H398Q	possibly damaging	Het
Iqgap3	T	C	3: 88,025,006 (GRCm39)	I669T	probably damaging	Het
Itgae	A	G	11: 73,020,074 (GRCm39)	T859A	probably damaging	Het
Kansl1l	T	C	1: 66,840,503 (GRCm39)	M266V	probably benign	Het
Kbtbd3	A	G	9: 4,331,426 (GRCm39)	D600G	possibly damaging	Het
Klf13	G	A	7: 63,541,348 (GRCm39)		probably benign	Het
Kmt2d	A	G	15: 98,742,278 (GRCm39)		probably benign	Het
Lama1	A	G	17: 68,109,943 (GRCm39)	D2188G	probably damaging	Het
Leng8	A	G	7: 4,148,273 (GRCm39)	T682A	probably damaging	Het
Mab21l4	T	C	1: 93,080,668 (GRCm39)	T413A	probably damaging	Het
Mslnl	G	T	17: 25,956,816 (GRCm39)	G34V	possibly damaging	Het
Mycbp2	A	T	14: 103,426,044 (GRCm39)	S2360R	probably damaging	Het
Mycbp2	C	A	14: 103,426,051 (GRCm39)		probably null	Het
Nkx2-2	T	C	2: 147,026,319 (GRCm39)	T140A	probably damaging	Het
Or11h6	T	C	14: 50,880,524 (GRCm39)	V262A	probably benign	Het
Or4c125	A	T	2: 89,170,049 (GRCm39)	V199E	possibly damaging	Het
Oser1	C	T	2: 163,248,965 (GRCm39)	R79H	probably damaging	Het
Pfas	A	G	11: 68,881,958 (GRCm39)	V909A	probably damaging	Het
Pkhd1l1	A	G	15: 44,396,388 (GRCm39)	E1970G	probably benign	Het
Prph2	G	T	17: 47,221,593 (GRCm39)		probably benign	Het
Rusc2	G	T	4: 43,425,758 (GRCm39)	A1288S	probably benign	Het
Scart2	G	A	7: 139,828,853 (GRCm39)	V171I	possibly damaging	Het
Sdha	A	G	13: 74,471,958 (GRCm39)		probably null	Het
Sec16a	T	G	2: 26,329,907 (GRCm39)	T703P	probably benign	Het
Senp7	T	A	16: 55,993,571 (GRCm39)	N724K	possibly damaging	Het
Skint1	A	G	4: 111,882,699 (GRCm39)	I248V	probably benign	Het
Slc9a5	T	C	8: 106,083,645 (GRCm39)	V395A	probably benign	Het
Slco1a4	T	C	6: 141,780,385 (GRCm39)	N135S	possibly damaging	Het
Sncaip	A	G	18: 53,028,028 (GRCm39)	I412M	probably damaging	Het
Tacc2	A	T	7: 130,225,781 (GRCm39)	D841V	possibly damaging	Het
Tekt1	A	T	11: 72,242,663 (GRCm39)	H281Q	probably benign	Het
Tex46	G	T	4: 136,340,228 (GRCm39)	M104I	probably benign	Het
Tjp3	T	C	10: 81,114,454 (GRCm39)		probably null	Het
Treh	A	G	9: 44,593,975 (GRCm39)	Y154C	probably damaging	Het
Trim80	T	A	11: 115,337,611 (GRCm39)	L428Q	probably damaging	Het
Trpm6	A	G	19: 18,830,968 (GRCm39)	K1278E	probably damaging	Het
Tut4	G	A	4: 108,414,570 (GRCm39)	R49H	probably damaging	Het
Usp34	T	C	11: 23,325,024 (GRCm39)	M990T	possibly damaging	Het
Vps9d1	A	G	8: 123,974,487 (GRCm39)	S267P	probably benign	Het
Ywhae	T	C	11: 75,647,750 (GRCm39)	M160T	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
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'- GTTTTCTGTCAGTTACCTAGGAATCTG -3'
(R):5'- AGGGACTTACCTCGAAGACG -3'

Sequencing Primer
(F):5'- CAGATCACTAGTTCGGAGCTAGC -3'
(R):5'- TCGAAGACGAATCGCTGATC -3'

Posted On

2016-11-08