Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02163:Fam184a'

282553

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam184a

Ensembl Gene

ENSMUSG00000019856

Gene Name

family with sequence similarity 184, member A

Synonyms

3110012E06Rik, 4930589M24Rik, 4930438C08Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.184) question?

Stock #

IGL02163

Quality Score

Status

Chromosome

Chromosomal Location

53509241-53627219 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 53523230 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151789 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020003] [ENSMUST00000163761] [ENSMUST00000169866] [ENSMUST00000171807] [ENSMUST00000217939] [ENSMUST00000218682] [ENSMUST00000218659]

AlphaFold

E9PW83

Predicted Effect

probably null
Transcript: ENSMUST00000020003

SMART Domains

Protein: ENSMUSP00000020003
Gene: ENSMUSG00000019856

Domain	Start	End	E-Value	Type
Pfam:FAM184	57	267	1.5e-84	PFAM
low complexity region	436	449	N/A	INTRINSIC
Blast:HisKA	533	598	4e-6	BLAST
coiled coil region	656	788	N/A	INTRINSIC
internal_repeat_2	795	864	2.49e-6	PROSPERO
internal_repeat_1	800	866	4.75e-7	PROSPERO
coiled coil region	960	983	N/A	INTRINSIC
low complexity region	1101	1113	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163761

SMART Domains

Protein: ENSMUSP00000127400
Gene: ENSMUSG00000019856

Domain	Start	End	E-Value	Type
coiled coil region	4	88	N/A	INTRINSIC
internal_repeat_1	99	167	6.86e-8	PROSPERO
internal_repeat_2	105	173	4e-7	PROSPERO
low complexity region	380	393	N/A	INTRINSIC
Blast:HisKA	480	542	5e-6	BLAST
coiled coil region	600	732	N/A	INTRINSIC
internal_repeat_2	739	808	4e-7	PROSPERO
internal_repeat_1	744	810	6.86e-8	PROSPERO
low complexity region	906	916	N/A	INTRINSIC
low complexity region	961	973	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000165986

SMART Domains

Protein: ENSMUSP00000128132
Gene: ENSMUSG00000019856

Domain	Start	End	E-Value	Type
coiled coil region	9	40	N/A	INTRINSIC
coiled coil region	102	166	N/A	INTRINSIC
coiled coil region	212	235	N/A	INTRINSIC
low complexity region	354	366	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168949

Predicted Effect

probably benign
Transcript: ENSMUST00000169866

SMART Domains

Protein: ENSMUSP00000128426
Gene: ENSMUSG00000019856

Domain	Start	End	E-Value	Type
coiled coil region	18	41	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000171807

SMART Domains

Protein: ENSMUSP00000130315
Gene: ENSMUSG00000019856

Domain	Start	End	E-Value	Type
low complexity region	32	45	N/A	INTRINSIC
Pfam:DUF3090	64	159	5.9e-8	PFAM
low complexity region	303	343	N/A	INTRINSIC
low complexity region	358	364	N/A	INTRINSIC
internal_repeat_1	383	410	4.35e-5	PROSPERO
internal_repeat_1	424	451	4.35e-5	PROSPERO
low complexity region	648	660	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000217939

Predicted Effect

probably null
Transcript: ENSMUST00000218682

Predicted Effect

probably benign
Transcript: ENSMUST00000218780

Predicted Effect

probably benign
Transcript: ENSMUST00000218659

Coding Region Coverage

Validation Efficiency

Allele List at MGI

All alleles(2) : Targeted, other(2)

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447A16Rik	T	C	15: 37,439,852 (GRCm39)		probably benign	Het
Armh4	A	G	14: 50,011,614 (GRCm39)	V31A	possibly damaging	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Cap1	C	T	4: 122,756,209 (GRCm39)	V396I	probably benign	Het
Ccdc80	T	C	16: 44,916,477 (GRCm39)	V411A	probably benign	Het
Cyp2w1	T	A	5: 139,341,920 (GRCm39)	M111K	probably damaging	Het
Dop1b	T	C	16: 93,559,315 (GRCm39)	V687A	possibly damaging	Het
Fhip1a	A	G	3: 85,595,859 (GRCm39)	F342S	possibly damaging	Het
Foxred1	A	T	9: 35,117,192 (GRCm39)	L313H	probably damaging	Het
Gm38392	G	A	3: 88,152,887 (GRCm39)		probably benign	Het
Kmt2d	A	T	15: 98,733,109 (GRCm39)		probably benign	Het
Lrpprc	A	T	17: 85,060,900 (GRCm39)	M591K	probably damaging	Het
Ncr1	A	T	7: 4,344,262 (GRCm39)	S217C	possibly damaging	Het
Or10al7	T	C	17: 38,365,641 (GRCm39)	H281R	probably benign	Het
Or1e1	T	A	11: 73,245,320 (GRCm39)	V247E	probably damaging	Het
Pds5b	T	C	5: 150,679,871 (GRCm39)	F526L	probably benign	Het
Plekhh2	A	T	17: 84,898,223 (GRCm39)	S955C	probably benign	Het
Prpf19	T	A	19: 10,879,800 (GRCm39)	S307R	probably benign	Het
Pwp2	G	A	10: 78,014,119 (GRCm39)	P456S	possibly damaging	Het
Rgs8	C	A	1: 153,547,511 (GRCm39)	T47K	possibly damaging	Het
Samd9l	T	A	6: 3,374,246 (GRCm39)	N1005I	possibly damaging	Het
Tmc4	A	G	7: 3,669,824 (GRCm39)	L20P	probably damaging	Het
Ttc21a	C	T	9: 119,779,901 (GRCm39)	Q403*	probably null	Het
Zbtb43	T	C	2: 33,343,795 (GRCm39)	R477G	possibly damaging	Het

Other mutations in Fam184a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01380:Fam184a	APN	10	53,570,782 (GRCm39)	splice site	probably benign
IGL01448:Fam184a	APN	10	53,575,045 (GRCm39)	missense	probably benign	0.19
IGL02052:Fam184a	APN	10	53,573,216 (GRCm39)	unclassified	probably benign
IGL02086:Fam184a	APN	10	53,575,351 (GRCm39)	missense	probably damaging	1.00
IGL02247:Fam184a	APN	10	53,551,256 (GRCm39)	missense	probably damaging	1.00
IGL02316:Fam184a	APN	10	53,514,335 (GRCm39)	missense	probably damaging	1.00
IGL02493:Fam184a	APN	10	53,570,789 (GRCm39)	critical splice donor site	probably null
IGL02629:Fam184a	APN	10	53,574,907 (GRCm39)	missense	possibly damaging	0.80
IGL03006:Fam184a	APN	10	53,574,793 (GRCm39)	missense	probably damaging	1.00
2107:Fam184a	UTSW	10	53,517,153 (GRCm39)	missense	probably damaging	1.00
PIT4802001:Fam184a	UTSW	10	53,560,450 (GRCm39)	nonsense	probably null
R0427:Fam184a	UTSW	10	53,566,211 (GRCm39)	missense	probably damaging	1.00
R0477:Fam184a	UTSW	10	53,531,175 (GRCm39)	missense	probably damaging	1.00
R0511:Fam184a	UTSW	10	53,574,975 (GRCm39)	missense	probably benign	0.03
R1322:Fam184a	UTSW	10	53,528,415 (GRCm39)	missense	probably damaging	1.00
R1422:Fam184a	UTSW	10	53,551,304 (GRCm39)	missense	probably benign	0.29
R1474:Fam184a	UTSW	10	53,511,461 (GRCm39)	missense	probably damaging	0.99
R1752:Fam184a	UTSW	10	53,550,666 (GRCm39)	missense	probably benign	0.02
R1831:Fam184a	UTSW	10	53,523,180 (GRCm39)	missense	probably damaging	0.97
R2186:Fam184a	UTSW	10	53,514,290 (GRCm39)	missense	probably damaging	1.00
R2202:Fam184a	UTSW	10	53,528,530 (GRCm39)	missense	probably damaging	1.00
R2203:Fam184a	UTSW	10	53,528,530 (GRCm39)	missense	probably damaging	1.00
R2221:Fam184a	UTSW	10	53,531,175 (GRCm39)	missense	probably damaging	1.00
R2223:Fam184a	UTSW	10	53,531,175 (GRCm39)	missense	probably damaging	1.00
R2261:Fam184a	UTSW	10	53,523,666 (GRCm39)	critical splice donor site	probably null
R2444:Fam184a	UTSW	10	53,517,045 (GRCm39)	missense	probably damaging	1.00
R3876:Fam184a	UTSW	10	53,575,157 (GRCm39)	missense	probably damaging	1.00
R3932:Fam184a	UTSW	10	53,575,397 (GRCm39)	missense	probably damaging	0.99
R4685:Fam184a	UTSW	10	53,574,596 (GRCm39)	missense	probably benign	0.39
R4953:Fam184a	UTSW	10	53,574,901 (GRCm39)	missense	probably benign	0.00
R5056:Fam184a	UTSW	10	53,550,670 (GRCm39)	missense	probably damaging	1.00
R5420:Fam184a	UTSW	10	53,509,753 (GRCm39)	missense	probably damaging	0.99
R6159:Fam184a	UTSW	10	53,574,869 (GRCm39)	missense	probably damaging	1.00
R6554:Fam184a	UTSW	10	53,517,063 (GRCm39)	missense	possibly damaging	0.95
R6714:Fam184a	UTSW	10	53,574,979 (GRCm39)	missense	probably benign	0.00
R6966:Fam184a	UTSW	10	53,531,095 (GRCm39)	missense	probably benign	0.34
R7034:Fam184a	UTSW	10	53,570,910 (GRCm39)	missense	possibly damaging	0.71
R7237:Fam184a	UTSW	10	53,510,489 (GRCm39)	unclassified	probably benign
R7253:Fam184a	UTSW	10	53,574,901 (GRCm39)	missense	probably benign	0.00
R7359:Fam184a	UTSW	10	53,575,318 (GRCm39)	missense	probably damaging	1.00
R7449:Fam184a	UTSW	10	53,574,730 (GRCm39)	missense	probably damaging	0.98
R7479:Fam184a	UTSW	10	53,531,110 (GRCm39)	missense	probably benign	0.01
R7725:Fam184a	UTSW	10	53,509,802 (GRCm39)	nonsense	probably null
R7726:Fam184a	UTSW	10	53,509,802 (GRCm39)	nonsense	probably null
R7881:Fam184a	UTSW	10	53,574,589 (GRCm39)	missense	probably benign	0.00
R7886:Fam184a	UTSW	10	53,551,256 (GRCm39)	missense	probably damaging	1.00
R7896:Fam184a	UTSW	10	53,509,802 (GRCm39)	nonsense	probably null
R7897:Fam184a	UTSW	10	53,509,802 (GRCm39)	nonsense	probably null
R7937:Fam184a	UTSW	10	53,509,802 (GRCm39)	nonsense	probably null
R7943:Fam184a	UTSW	10	53,523,137 (GRCm39)	missense	probably damaging	1.00
R7943:Fam184a	UTSW	10	53,509,802 (GRCm39)	nonsense	probably null
R7970:Fam184a	UTSW	10	53,575,421 (GRCm39)	missense	probably damaging	1.00
R7972:Fam184a	UTSW	10	53,514,355 (GRCm39)	missense	probably damaging	1.00
R8049:Fam184a	UTSW	10	53,509,802 (GRCm39)	nonsense	probably null
R9070:Fam184a	UTSW	10	53,514,373 (GRCm39)	missense	possibly damaging	0.71
R9134:Fam184a	UTSW	10	53,573,344 (GRCm39)	missense	probably damaging	0.99
R9373:Fam184a	UTSW	10	53,566,115 (GRCm39)	missense	probably benign
R9614:Fam184a	UTSW	10	53,517,144 (GRCm39)	missense	probably damaging	1.00
R9644:Fam184a	UTSW	10	53,573,342 (GRCm39)	missense	probably damaging	1.00
R9706:Fam184a	UTSW	10	53,575,249 (GRCm39)	missense	probably damaging	0.99
R9787:Fam184a	UTSW	10	53,626,864 (GRCm39)	missense	possibly damaging	0.69
Z1177:Fam184a	UTSW	10	53,575,182 (GRCm39)	missense	probably damaging	0.97

Posted On

2015-04-16