Mutagenetix > Incidental Mutation

Incidental Mutation 'R7153:Bsnd'

554246

Institutional Source

Beutler Lab

Gene Symbol

Bsnd

Ensembl Gene

ENSMUSG00000025418

Gene Name

barttin CLCNK type accessory beta subunit

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R7153 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106483456-106492283 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 106492033 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 3 (D3E)

Ref Sequence

ENSEMBL: ENSMUSP00000049563 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054472]

AlphaFold

Q8VIM4

Predicted Effect

probably benign
Transcript: ENSMUST00000054472
AA Change: D3E

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000049563
Gene: ENSMUSG00000025418
AA Change: D3E

Domain	Start	End	E-Value	Type
transmembrane domain	7	26	N/A	INTRINSIC
Pfam:Barttin	27	241	5.2e-110	PFAM
low complexity region	273	280	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (75/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an essential beta subunit for CLC chloride channels. These heteromeric channels localize to basolateral membranes of renal tubules and of potassium-secreting epithelia of the inner ear. Mutations in this gene have been associated with Bartter syndrome with sensorineural deafness. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit severe dehydration and postnatal lethality. Mice homozygous for a cre-activated conditional allele exhibit hearing loss with outer hair cell and stria vascularis degeneration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano2	A	G	6: 125,992,943	T741A	possibly damaging	Het
Aox4	T	C	1: 58,250,219	M767T	probably damaging	Het
Arhgap39	C	A	15: 76,765,491	S27I	probably benign	Het
AU018091	T	A	7: 3,159,513	M296L	probably benign	Het
Axin1	A	G	17: 26,187,968	T512A	probably benign	Het
B4galnt3	A	T	6: 120,214,968	D602E	probably benign	Het
Bcl6	G	A	16: 23,966,226	R675*	probably null	Het
Btbd18	C	T	2: 84,666,428	R137*	probably null	Het
C2cd5	A	G	6: 143,019,409	S871P	probably benign	Het
Cobl	G	T	11: 12,254,128	P858Q	probably damaging	Het
Col6a1	C	T	10: 76,710,341		probably null	Het
Crb2	A	T	2: 37,787,408	H304L	probably benign	Het
Crybg1	T	A	10: 43,964,666	Y1812F	possibly damaging	Het
Ddx60	A	T	8: 61,988,108	K1070N	possibly damaging	Het
Defb22	T	C	2: 152,485,920	K115R	unknown	Het
Dhx8	C	T	11: 101,740,175		probably null	Het
Dnah5	T	A	15: 28,365,522		probably null	Het
Dnah7b	T	A	1: 46,126,804	F543Y	probably benign	Het
Ehhadh	A	G	16: 21,766,321	F270S	probably damaging	Het
Esyt2	A	G	12: 116,346,508	M397V	probably benign	Het
Fanca	A	T	8: 123,316,425	L74H	probably damaging	Het
Fbxl17	C	A	17: 63,060,351	V676F	probably benign	Het
Fndc1	A	G	17: 7,801,645	V102A	probably damaging	Het
Gpalpp1	T	C	14: 76,095,011	Y273C	probably damaging	Het
Gpatch8	TTCCTCCTCCTCCTCTTCCTCCTCCTC	TTCCTCCTCCTCCTCCTCTTCCTCCTCCTC	11: 102,480,188		probably benign	Het
Grik2	T	C	10: 49,535,367	H225R	probably benign	Het
Helz2	A	T	2: 181,231,285	S2411T	probably benign	Het
Hnmt	C	T	2: 24,014,341	A103T	probably damaging	Het
Ighv15-2	G	T	12: 114,564,590	Y114*	probably null	Het
Irak2	A	G	6: 113,678,709	H357R	probably benign	Het
Kcp	T	C	6: 29,499,015	E320G	probably damaging	Het
Kpna4	A	G	3: 69,089,798	L352S	probably damaging	Het
Krt36	G	A	11: 100,105,146	Q151*	probably null	Het
Krt77	G	A	15: 101,865,496	T241M	probably benign	Het
Lca5l	T	A	16: 96,173,809	N305I	probably damaging	Het
Lefty1	T	A	1: 180,937,767	L300Q	probably benign	Het
Mertk	A	G	2: 128,736,649	Y185C	probably damaging	Het
Mmp14	T	C	14: 54,436,251	I124T	possibly damaging	Het
Nlrc4	T	C	17: 74,447,103	E95G	possibly damaging	Het
Npc1	A	G	18: 12,213,291	F283L	possibly damaging	Het
Olfr1180	A	C	2: 88,412,118	L180W	probably damaging	Het
Olfr1282	A	T	2: 111,335,901	M59K	probably damaging	Het
Pcdha11	T	C	18: 37,011,225	V123A	probably damaging	Het
Pcdhga2	T	C	18: 37,669,208	V35A	probably damaging	Het
Pgd	G	T	4: 149,161,678	T94K	probably benign	Het
Pik3c2a	T	C	7: 116,342,252	N1593S	probably damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Plcb3	A	G	19: 6,958,084		probably null	Het
Prkd3	C	T	17: 78,966,355	D491N	probably benign	Het
Ptprf	T	C	4: 118,231,543	T688A	probably damaging	Het
Pycr2	T	A	1: 180,906,682	L210M	probably damaging	Het
Rpl36	T	C	17: 56,614,137	I81T	probably benign	Het
Rraga	C	T	4: 86,576,016	A33V	probably damaging	Het
Slc29a1	G	A	17: 45,585,762	A429V	probably damaging	Het
Stab1	T	G	14: 31,160,584	E432A	probably benign	Het
Synj1	C	T	16: 90,948,090	G1189R	probably benign	Het
Synpo2	A	G	3: 123,112,404	*1088Q	probably null	Het
Tbc1d21	T	C	9: 58,363,093	D133G	probably damaging	Het
Tenm2	A	G	11: 36,024,182	V2176A	probably damaging	Het
Tff1	A	G	17: 31,162,798	I35T	probably benign	Het
Thnsl1	T	C	2: 21,212,953	V506A	possibly damaging	Het
Timm10b	A	G	7: 105,640,880	Q50R	unknown	Het
Tjp2	A	T	19: 24,101,981	N843K	probably benign	Het
Tle1	A	T	4: 72,139,061	F101I	probably benign	Het
Tmem225	T	C	9: 40,148,368	F15L	probably benign	Het
Trav12-3	T	C	14: 53,622,161	L88P	probably benign	Het
Ttc7b	A	T	12: 100,355,034	W613R	probably damaging	Het
Ttn	T	A	2: 76,778,504	M17723L	probably benign	Het
Ttn	T	C	2: 76,945,316	D1840G	unknown	Het
Tubgcp2	T	C	7: 140,001,036	H668R	probably benign	Het
Ush2a	C	A	1: 188,728,484	N2647K	possibly damaging	Het
Vmn1r14	C	T	6: 57,233,866	S143F	probably benign	Het
Vmn2r70	A	G	7: 85,565,054	S297P	probably damaging	Het
Ywhab	T	C	2: 164,014,060	F119L	probably damaging	Het
Zmym2	T	A	14: 56,950,202	D1108E	probably benign	Het

Other mutations in Bsnd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03220:Bsnd	APN	4	106486765	missense	possibly damaging	0.58
IGL02802:Bsnd	UTSW	4	106492034	missense	probably damaging	1.00
R1327:Bsnd	UTSW	4	106486612	missense	probably benign	0.08
R1869:Bsnd	UTSW	4	106486636	missense	probably benign	0.03
R1912:Bsnd	UTSW	4	106488030	nonsense	probably null
R4294:Bsnd	UTSW	4	106485158	missense	probably benign	0.01
R4411:Bsnd	UTSW	4	106486671	missense	probably benign
R5241:Bsnd	UTSW	4	106487985	missense	probably benign	0.21
R5733:Bsnd	UTSW	4	106488001	missense	probably benign	0.08
R6274:Bsnd	UTSW	4	106486635	missense	probably damaging	0.96
R6483:Bsnd	UTSW	4	106488015	missense	probably damaging	0.99
R7184:Bsnd	UTSW	4	106491912	missense	probably damaging	1.00
X0023:Bsnd	UTSW	4	106485417	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTAGGATAGCATTGGCACATG -3'
(R):5'- AAAGTTAGATGGCTGGGACCTTG -3'

Sequencing Primer
(F):5'- ATTGGCACATGCTCCAGATG -3'
(R):5'- ACTGAAGCGTGTCACCTG -3'

Posted On

2019-05-15