Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02150:Bbs4'

281935

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Bbs4

Ensembl Gene

ENSMUSG00000025235

Gene Name

Bardet-Biedl syndrome 4

Synonyms

D9Ertd464e

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.583) question?

Stock #

IGL02150

Quality Score

Status

Chromosome

Chromosomal Location

59229273-59260791 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59243651 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 152 (N152S)

Ref Sequence

ENSEMBL: ENSMUSP00000026265 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026265]

AlphaFold

Q8C1Z7

Predicted Effect

probably benign
Transcript: ENSMUST00000026265
AA Change: N152S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000026265
Gene: ENSMUSG00000025235
AA Change: N152S

Domain	Start	End	E-Value	Type
TPR	67	100	1.64e1	SMART
TPR	101	134	1.14e1	SMART
TPR	135	168	5.19e-3	SMART
TPR	169	201	3.67e-3	SMART
TPR	202	235	9.68e-3	SMART
TPR	270	303	1.26e-1	SMART
TPR	304	337	2.38e-2	SMART
TPR	338	371	1.64e1	SMART
low complexity region	490	504	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214832

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and mental retardation. The proteins encoded by BBS gene family members are structurally diverse. The similar phenotypes exhibited by mutations in BBS gene family members are likely due to the protein's shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene has sequence similarity to O-linked N-acetylglucosamine (O-GlcNAc) transferases in plants and archaebacteria and in human forms a multi-protein "BBSome" complex with seven other BBS proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
PHENOTYPE: Homozygous null mice display partial embryonic lethality, low body weight before weaning, obesity and polyphagia after weaning, retinal degeneration, male infertility, absence of sperm cell flagella, renal abnormalities, impaired olfaction, and abnormal olfactory epithelium and neurons. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankdd1a	C	T	9: 65,420,001 (GRCm39)	G92S	probably damaging	Het
Arid1a	A	T	4: 133,414,568 (GRCm39)	M1221K	unknown	Het
Arl10	G	A	13: 54,726,662 (GRCm39)	V147M	probably damaging	Het
Cacna2d2	T	G	9: 107,404,515 (GRCm39)		probably benign	Het
Capn9	A	G	8: 125,340,582 (GRCm39)	E582G	probably benign	Het
Cct2	A	T	10: 116,898,004 (GRCm39)	L61Q	probably damaging	Het
Clip4	A	G	17: 72,106,071 (GRCm39)	I85V	probably damaging	Het
Daam2	A	T	17: 49,797,332 (GRCm39)	L151Q	possibly damaging	Het
Dlst	T	A	12: 85,177,807 (GRCm39)	I400N	possibly damaging	Het
Dock7	A	T	4: 98,968,089 (GRCm39)		probably benign	Het
Dynlrb2	A	G	8: 117,242,449 (GRCm39)	N93S	probably benign	Het
Efl1	A	G	7: 82,335,899 (GRCm39)	T407A	probably benign	Het
Emilin1	A	G	5: 31,077,517 (GRCm39)	D891G	possibly damaging	Het
Enpp4	A	C	17: 44,413,049 (GRCm39)	S162A	probably benign	Het
Epas1	A	G	17: 87,112,717 (GRCm39)	D105G	probably damaging	Het
Fcgbpl1	T	A	7: 27,846,204 (GRCm39)	Y965*	probably null	Het
Gcn1	T	A	5: 115,747,927 (GRCm39)	I1778N	probably damaging	Het
Gm14496	A	C	2: 181,633,140 (GRCm39)	D41A	probably damaging	Het
Gm7008	T	A	12: 40,273,257 (GRCm39)		probably benign	Het
Hcfc2	G	A	10: 82,545,852 (GRCm39)	S246N	probably damaging	Het
Hectd1	T	C	12: 51,815,974 (GRCm39)	N1366S	probably damaging	Het
Lgmn	T	C	12: 102,361,986 (GRCm39)	R372G	possibly damaging	Het
Map2k7	A	G	8: 4,293,818 (GRCm39)	M153V	possibly damaging	Het
Megf8	T	A	7: 25,045,842 (GRCm39)		probably null	Het
Mgat4c	A	C	10: 102,224,983 (GRCm39)	E399A	probably benign	Het
Myorg	A	G	4: 41,499,183 (GRCm39)	V149A	possibly damaging	Het
Nfat5	C	T	8: 108,094,584 (GRCm39)	Q942*	probably null	Het
Notch4	A	G	17: 34,803,587 (GRCm39)	E1502G	probably damaging	Het
Optn	A	C	2: 5,037,963 (GRCm39)	I410M	probably damaging	Het
Or6b9	G	T	7: 106,555,763 (GRCm39)	P127T	probably damaging	Het
Or8c17	A	T	9: 38,180,564 (GRCm39)	I252L	possibly damaging	Het
Ppp1ca	G	A	19: 4,244,698 (GRCm39)		probably benign	Het
Pramel5	C	A	4: 143,999,771 (GRCm39)	L105F	possibly damaging	Het
Rad54b	T	A	4: 11,610,502 (GRCm39)	N706K	probably damaging	Het
Rgs11	A	T	17: 26,421,968 (GRCm39)	T6S	probably benign	Het
Sbf1	T	C	15: 89,179,683 (GRCm39)	H1308R	probably benign	Het
Scart2	G	A	7: 139,877,772 (GRCm39)	G918D	possibly damaging	Het
Sec31a	T	C	5: 100,533,984 (GRCm39)		probably benign	Het
Sh2d5	G	A	4: 137,985,553 (GRCm39)	D334N	probably benign	Het
Skint5	T	A	4: 113,742,988 (GRCm39)	I360F	unknown	Het
Slc12a1	G	A	2: 125,026,735 (GRCm39)	D457N	probably damaging	Het
Slco2a1	C	T	9: 102,962,017 (GRCm39)	A563V	probably damaging	Het
Snrnp35	G	A	5: 124,628,471 (GRCm39)	A95T	probably damaging	Het
Snx25	C	A	8: 46,569,318 (GRCm39)	R193L	possibly damaging	Het
Stxbp5	T	G	10: 9,638,565 (GRCm39)	Q1078P	probably damaging	Het
Tmc2	A	T	2: 130,082,073 (GRCm39)	I419F	probably damaging	Het
Tmem87a	A	T	2: 120,190,557 (GRCm39)	W525R	probably damaging	Het
Trhde	A	T	10: 114,428,013 (GRCm39)	S428T	probably damaging	Het
Trp73	G	A	4: 154,165,943 (GRCm39)	A42V	possibly damaging	Het
Ttn	T	C	2: 76,679,316 (GRCm39)		probably benign	Het
Ttn	C	T	2: 76,598,846 (GRCm39)	V19356M	probably damaging	Het
Vmn1r170	T	A	7: 23,306,465 (GRCm39)	L289*	probably null	Het
Vwa5b2	A	T	16: 20,423,576 (GRCm39)	Q1163L	probably benign	Het
Washc2	T	A	6: 116,208,593 (GRCm39)		probably benign	Het
Wdr70	T	G	15: 8,112,030 (GRCm39)	K71T	possibly damaging	Het
Zbtb41	T	C	1: 139,368,186 (GRCm39)	S625P	possibly damaging	Het
Zfp518b	A	G	5: 38,830,686 (GRCm39)	S440P	probably damaging	Het
Zfp518b	A	G	5: 38,831,132 (GRCm39)	V291A	probably damaging	Het
Zmym2	G	A	14: 57,148,526 (GRCm39)		probably benign	Het

Other mutations in Bbs4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00790:Bbs4	APN	9	59,231,348 (GRCm39)	missense	probably benign	0.00
IGL01360:Bbs4	APN	9	59,247,131 (GRCm39)	missense	possibly damaging	0.89
IGL02005:Bbs4	APN	9	59,243,638 (GRCm39)	splice site	probably benign
IGL02278:Bbs4	APN	9	59,248,451 (GRCm39)	missense	possibly damaging	0.64
IGL02402:Bbs4	APN	9	59,237,729 (GRCm39)	missense	probably benign	0.41
IGL02593:Bbs4	APN	9	59,235,880 (GRCm39)	missense	probably damaging	0.99
IGL03328:Bbs4	APN	9	59,251,401 (GRCm39)	missense	probably damaging	1.00
R0964:Bbs4	UTSW	9	59,230,259 (GRCm39)	makesense	probably null
R1298:Bbs4	UTSW	9	59,247,096 (GRCm39)	missense	probably damaging	1.00
R1944:Bbs4	UTSW	9	59,237,698 (GRCm39)	splice site	probably null
R2986:Bbs4	UTSW	9	59,248,478 (GRCm39)	missense	probably damaging	1.00
R4118:Bbs4	UTSW	9	59,237,708 (GRCm39)	missense	possibly damaging	0.90
R4701:Bbs4	UTSW	9	59,230,802 (GRCm39)	missense	probably benign
R6930:Bbs4	UTSW	9	59,230,764 (GRCm39)	missense	probably benign
R8685:Bbs4	UTSW	9	59,247,138 (GRCm39)	missense	probably benign
R9522:Bbs4	UTSW	9	59,260,691 (GRCm39)	critical splice donor site	probably null

Posted On

2015-04-16