Mutagenetix > Incidental Mutation

Incidental Mutation 'R5657:Clca3b'

442370

Institutional Source

Beutler Lab

Gene Symbol

Clca3b

Ensembl Gene

ENSMUSG00000037033

Gene Name

chloride channel accessory 3B

Synonyms

Clca4

MMRRC Submission

043171-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R5657 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

144822623-144849357 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 144827383 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 629 (L629F)

Ref Sequence

ENSEMBL: ENSMUSP00000124581 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000159989]

AlphaFold

E9PUL3

Predicted Effect

probably benign
Transcript: ENSMUST00000159989
AA Change: L629F

PolyPhen 2 Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000124581
Gene: ENSMUSG00000037033
AA Change: L629F

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
VWA	306	481	6.22e-19	SMART
FN3	762	861	4.93e0	SMART
low complexity region	880	1025	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl5	A	G	5: 30,894,046	Y533C	probably damaging	Het
Ahnak	T	C	19: 9,014,615	V4421A	probably damaging	Het
Bach1	A	G	16: 87,719,285	K238R	probably benign	Het
Bloc1s6	T	A	2: 122,738,657	V12D	probably benign	Het
Clhc1	A	G	11: 29,561,431	I292V	probably benign	Het
Col27a1	T	C	4: 63,225,310	S412P	probably damaging	Het
Col6a4	A	G	9: 106,072,198	I746T	probably damaging	Het
Cracr2a	G	A	6: 127,604,007	A49T	probably damaging	Het
Cyb561d1	A	G	3: 108,200,692	I28T	possibly damaging	Het
Dnah11	T	A	12: 117,883,617	M4264L	probably damaging	Het
Dnajc13	A	G	9: 104,228,537	L412S	probably damaging	Het
Dpf3	T	C	12: 83,325,011	N150S	probably damaging	Het
Epha2	T	C	4: 141,323,494	C854R	probably damaging	Het
Fat2	G	T	11: 55,310,681	Y522*	probably null	Het
Foxm1	A	T	6: 128,373,388	S551C	possibly damaging	Het
Galnt12	T	C	4: 47,104,150	V136A	possibly damaging	Het
Gm6647	T	G	5: 13,768,821		noncoding transcript	Het
Grin2b	T	A	6: 135,733,087	I1154F	possibly damaging	Het
Hmcn1	A	G	1: 150,658,562	V2987A	probably benign	Het
Jade2	A	G	11: 51,816,987	S800P	probably damaging	Het
Naip6	C	A	13: 100,300,401	S538I	probably benign	Het
Olfr393	T	C	11: 73,847,540	N195S	probably damaging	Het
Plekha6	G	C	1: 133,272,307	R208P	possibly damaging	Het
Plod1	T	C	4: 147,918,781	E529G	possibly damaging	Het
Plppr2	T	C	9: 21,947,615	C343R	probably damaging	Het
Prpf38a	T	C	4: 108,568,424	D219G	probably damaging	Het
Ptpra	G	A	2: 130,504,284	E122K	probably benign	Het
Rabl2	T	C	15: 89,588,213	M38V	probably benign	Het
Reep1	A	G	6: 71,761,374	M39V	possibly damaging	Het
Rsf1	GC	GCGGCGGCGTC	7: 97,579,934		probably benign	Het
Slc26a10	T	C	10: 127,174,964		probably benign	Het
Sun2	C	A	15: 79,727,949	E510*	probably null	Het
Tanc1	A	G	2: 59,834,707		probably null	Het
Ticam1	TCACACA	TCACA	17: 56,270,629		probably null	Het
Tor1aip1	G	T	1: 156,007,488	H205N	probably damaging	Het
Trpc6	C	T	9: 8,609,807	T92I	probably benign	Het
Vmn2r100	T	A	17: 19,504,916	F36I	probably benign	Het
Zfp787	T	C	7: 6,133,054	Y66C	probably damaging	Het

Other mutations in Clca3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Clca3b	APN	3	144836632	missense	probably damaging	0.96
IGL00425:Clca3b	APN	3	144836581	missense	probably benign	0.14
IGL00725:Clca3b	APN	3	144839162	missense	probably benign	0.01
IGL00898:Clca3b	APN	3	144844628	splice site	probably benign
IGL00953:Clca3b	APN	3	144847211	nonsense	probably null
IGL01089:Clca3b	APN	3	144823522	missense	probably benign
IGL01376:Clca3b	APN	3	144826051	missense	possibly damaging	0.60
IGL01996:Clca3b	APN	3	144849163	missense	probably benign	0.04
IGL02022:Clca3b	APN	3	144841410	critical splice donor site	probably null
IGL02200:Clca3b	APN	3	144841429	missense	probably damaging	1.00
IGL02314:Clca3b	APN	3	144828142	splice site	probably benign
IGL02331:Clca3b	APN	3	144841406	splice site	probably benign
IGL02429:Clca3b	APN	3	144828135	missense	probably damaging	1.00
IGL02868:Clca3b	APN	3	144827564	missense	probably damaging	1.00
IGL03095:Clca3b	APN	3	144846910	nonsense	probably null
IGL03331:Clca3b	APN	3	144827963	missense	probably benign
R0242:Clca3b	UTSW	3	144841465	missense	probably benign	0.00
R0242:Clca3b	UTSW	3	144841465	missense	probably benign	0.00
R0506:Clca3b	UTSW	3	144822866	unclassified	probably benign
R0524:Clca3b	UTSW	3	144825321	missense	probably benign
R0637:Clca3b	UTSW	3	144827940	missense	probably benign	0.03
R1577:Clca3b	UTSW	3	144823519	missense	probably damaging	1.00
R1641:Clca3b	UTSW	3	144823513	missense	possibly damaging	0.53
R1680:Clca3b	UTSW	3	144837824	missense	probably damaging	1.00
R2240:Clca3b	UTSW	3	144825935	missense	probably benign	0.22
R2248:Clca3b	UTSW	3	144825219	missense	probably benign	0.01
R2259:Clca3b	UTSW	3	144846381	missense	possibly damaging	0.80
R2920:Clca3b	UTSW	3	144837853	missense	probably benign	0.31
R2920:Clca3b	UTSW	3	144846931	missense	probably benign	0.01
R4355:Clca3b	UTSW	3	144825458	splice site	probably null
R4691:Clca3b	UTSW	3	144839092	missense	probably benign	0.02
R4828:Clca3b	UTSW	3	144844512	missense	probably benign	0.02
R4845:Clca3b	UTSW	3	144825270	missense	probably benign
R5182:Clca3b	UTSW	3	144828015	missense	probably damaging	0.99
R5396:Clca3b	UTSW	3	144847171	missense	probably damaging	0.99
R5429:Clca3b	UTSW	3	144846459	missense	probably damaging	1.00
R5572:Clca3b	UTSW	3	144827309	missense	probably damaging	1.00
R5845:Clca3b	UTSW	3	144825316	missense	possibly damaging	0.46
R6505:Clca3b	UTSW	3	144825259	missense	probably benign	0.18
R6677:Clca3b	UTSW	3	144823384	missense	probably benign	0.13
R6707:Clca3b	UTSW	3	144844527	missense	probably benign	0.00
R7001:Clca3b	UTSW	3	144827972	missense	possibly damaging	0.48
R7285:Clca3b	UTSW	3	144837758	missense	probably benign	0.00
R7323:Clca3b	UTSW	3	144825920	missense	possibly damaging	0.60
R7324:Clca3b	UTSW	3	144841420	missense	possibly damaging	0.81
R7334:Clca3b	UTSW	3	144836656	nonsense	probably null
R7403:Clca3b	UTSW	3	144823498	missense	probably benign	0.00
R7798:Clca3b	UTSW	3	144828130	missense	probably damaging	1.00
R8008:Clca3b	UTSW	3	144844609	missense	probably benign	0.44
R8132:Clca3b	UTSW	3	144847174	missense	probably benign	0.13
R8181:Clca3b	UTSW	3	144839137	missense	probably benign	0.00
R8305:Clca3b	UTSW	3	144825937	missense	probably damaging	1.00
R8546:Clca3b	UTSW	3	144827397	missense	probably damaging	0.99
R8716:Clca3b	UTSW	3	144844594	missense	probably benign	0.14
R8804:Clca3b	UTSW	3	144839137	missense	probably benign	0.00
R8966:Clca3b	UTSW	3	144839111	missense	probably benign	0.27
R9003:Clca3b	UTSW	3	144827311	nonsense	probably null
R9455:Clca3b	UTSW	3	144823262	missense	unknown
R9470:Clca3b	UTSW	3	144837695	missense	probably damaging	1.00
R9658:Clca3b	UTSW	3	144837814	missense	probably damaging	0.98
R9760:Clca3b	UTSW	3	144846849	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TCTGGGCAGAGGTTTAACACATTG -3'
(R):5'- TCAGACAGGCACTTGGACTTAC -3'

Sequencing Primer
(F):5'- CAGAGGTTTAACACATTGCAGCTAG -3'
(R):5'- CTTACAGCCTCTTAAATAAGGGTGCC -3'

Posted On

2016-11-09