Mutagenetix > Incidental Mutation

Incidental Mutation 'R4118:Bbs4'

315173

Institutional Source

Beutler Lab

Gene Symbol

Bbs4

Ensembl Gene

ENSMUSG00000025235

Gene Name

Bardet-Biedl syndrome 4

Synonyms

D9Ertd464e

MMRRC Submission

041631-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.607) question?

Stock #

R4118 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59229273-59260791 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59237708 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 212 (Y212C)

Ref Sequence

ENSEMBL: ENSMUSP00000026265 (fasta)

Gene Model

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

AlphaFold

Q8C1Z7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026265
AA Change: Y212C

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000026265
Gene: ENSMUSG00000025235
AA Change: Y212C

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

Predicted Effect

probably benign
Transcript: ENSMUST00000217367

Meta Mutation Damage Score

0.8684

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

92% (55/60)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	T	C	3: 124,373,503 (GRCm39)	R31G	possibly damaging	Het
4932414N04Rik	C	T	2: 68,566,857 (GRCm39)	R419C	probably benign	Het
Ankmy1	T	C	1: 92,816,418 (GRCm39)	E232G	possibly damaging	Het
Arhgef4	A	T	1: 34,771,428 (GRCm39)	K1245M	probably damaging	Het
Atp2c1	A	G	9: 105,343,858 (GRCm39)	L83P	probably damaging	Het
Atp9b	T	C	18: 80,793,044 (GRCm39)	D1000G	possibly damaging	Het
Atxn7	T	C	14: 14,100,308 (GRCm38)	S665P	probably benign	Het
Cars1	A	G	7: 143,113,384 (GRCm39)		probably null	Het
Cep162	T	C	9: 87,086,229 (GRCm39)	T1032A	probably benign	Het
Chd7	G	A	4: 8,865,831 (GRCm39)	E668K	probably damaging	Het
Dek	T	C	13: 47,242,076 (GRCm39)	T201A	probably benign	Het
Depdc5	T	A	5: 33,121,979 (GRCm39)	S1079T	probably damaging	Het
Etaa1	A	T	11: 17,896,180 (GRCm39)	S646T	probably benign	Het
Fat1	T	C	8: 45,463,474 (GRCm39)	S1339P	probably damaging	Het
Fat1	C	A	8: 45,503,981 (GRCm39)	D4491E	probably damaging	Het
Gmps	T	C	3: 63,887,615 (GRCm39)	V29A	probably benign	Het
Gpr18	T	C	14: 122,149,968 (GRCm39)	E19G	probably benign	Het
Ipo5	A	G	14: 121,176,073 (GRCm39)	T633A	probably benign	Het
Jmjd1c	T	A	10: 67,055,532 (GRCm39)	S317R	probably damaging	Het
Lama3	T	A	18: 12,583,488 (GRCm39)	M692K	probably benign	Het
Lrp12	A	T	15: 39,741,361 (GRCm39)	C451*	probably null	Het
Lrp2	C	T	2: 69,260,606 (GRCm39)		probably null	Het
Myrfl	T	A	10: 116,664,870 (GRCm39)	I387F	probably damaging	Het
Naglu	G	A	11: 100,964,908 (GRCm39)	V332I	probably benign	Het
Nat2	G	A	8: 67,954,271 (GRCm39)	R127H	possibly damaging	Het
Otx2	G	A	14: 48,896,611 (GRCm39)	T141I	probably benign	Het
Paqr9	T	A	9: 95,442,952 (GRCm39)	I314N	probably damaging	Het
Pds5b	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	5: 150,698,819 (GRCm39)		probably benign	Het
Ppm1d	A	G	11: 85,202,408 (GRCm39)	D37G	probably benign	Het
Prdm9	T	G	17: 15,764,275 (GRCm39)	D835A	probably benign	Het
Ptprq	A	G	10: 107,547,781 (GRCm39)	S206P	probably benign	Het
Rapgef2	A	G	3: 78,976,194 (GRCm39)		probably null	Het
Rpgrip1l	G	A	8: 91,979,535 (GRCm39)	T969I	probably benign	Het
Rpp40	A	G	13: 36,080,787 (GRCm39)	Y316H	probably damaging	Het
Serpinb3d	A	T	1: 107,006,960 (GRCm39)	D249E	possibly damaging	Het
Slc22a29	A	C	19: 8,137,893 (GRCm39)		probably benign	Het
Slc35f1	T	C	10: 52,965,464 (GRCm39)	M293T	probably damaging	Het
Slmap	A	T	14: 26,204,027 (GRCm39)	L98H	probably damaging	Het
Tiam1	C	T	16: 89,673,921 (GRCm39)		probably null	Het
Tlr11	A	G	14: 50,600,684 (GRCm39)	Y890C	probably damaging	Het
Tmem131l	T	C	3: 83,868,074 (GRCm39)	T194A	probably benign	Het
Ubap1	A	T	4: 41,371,767 (GRCm39)	D26V	probably damaging	Het
Vmn2r91	T	A	17: 18,330,358 (GRCm39)	N547K	probably damaging	Het
Wiz	C	T	17: 32,588,331 (GRCm39)		probably benign	Het
Wwp2	A	G	8: 108,272,091 (GRCm39)	T399A	probably benign	Het
Zfp729b	A	T	13: 67,740,829 (GRCm39)	F479I	possibly damaging	Het
Zswim5	G	A	4: 116,844,016 (GRCm39)	R1018H	possibly damaging	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
IGL02150:Bbs4	APN	9	59,243,651 (GRCm39)	missense	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
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

Predicted Primers

PCR Primer
(F):5'- TGCAAATGTTAGTTCCCTTAGCAAC -3'
(R):5'- GATTGCCAAACTGCTCTCAG -3'

Sequencing Primer
(F):5'- CGAGTATATAAAACAAACCAGGGTTC -3'
(R):5'- TTTAATCCCAGCACTCAGGAGG -3'

Posted On

2015-05-14