Mutagenetix > Incidental Mutation

Incidental Mutation 'R6707:Clca3b'

528968

Institutional Source

Beutler Lab

Gene Symbol

Clca3b

Ensembl Gene

ENSMUSG00000037033

Gene Name

chloride channel accessory 3B

Synonyms

Clca4

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R6707 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

144822623-144849357 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 144844527 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 219 (Q219L)

Ref Sequence

ENSEMBL: ENSMUSP00000124581 (fasta)

Gene Model

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

AlphaFold

E9PUL3

Predicted Effect

probably benign
Transcript: ENSMUST00000159989
AA Change: Q219L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000124581
Gene: ENSMUSG00000037033
AA Change: Q219L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161990

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

100% (42/42)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	G	A	15: 8,223,122	V1943M	probably benign	Het
Acss3	T	C	10: 107,084,922	Y109C	probably damaging	Het
Actg2	C	T	6: 83,513,094	W341*	probably null	Het
Adam29	C	T	8: 55,872,100	G440R	probably damaging	Het
AI314180	T	A	4: 58,879,101	I63L	possibly damaging	Het
Arfgef3	T	C	10: 18,621,155	D1153G	probably benign	Het
Arhgef28	G	T	13: 97,936,716	Q1371K	probably damaging	Het
Arhgef28	T	C	13: 98,075,116	T120A	possibly damaging	Het
BC051665	A	T	13: 60,784,408	D122E	probably benign	Het
Boc	A	T	16: 44,500,616	I227N	possibly damaging	Het
Cyp2c66	T	A	19: 39,186,500	F448Y	probably damaging	Het
Ddx5	A	G	11: 106,782,232	M489T	probably benign	Het
Dnm1	T	C	2: 32,336,241	D312G	probably null	Het
Eqtn	T	C	4: 94,907,819	D215G	probably benign	Het
Evi5l	A	T	8: 4,206,322	T706S	probably benign	Het
Gtf2f1	T	C	17: 57,007,770	E90G	probably benign	Het
Hpx	A	T	7: 105,595,475	S168T	probably benign	Het
Ipo4	C	A	14: 55,628,904	V773L	possibly damaging	Het
Ireb2	C	T	9: 54,903,961	T716I	probably damaging	Het
Klhl21	A	G	4: 152,012,327	D350G	possibly damaging	Het
Myh13	A	T	11: 67,350,260	N821I	probably damaging	Het
Nipbl	G	T	15: 8,324,559	T1698K	probably benign	Het
Nod2	A	G	8: 88,665,189	H686R	probably benign	Het
Ntf3	A	G	6: 126,164,728		probably null	Het
Olfr811	G	T	10: 129,801,820	A235D	probably damaging	Het
Olfr816	T	C	10: 129,911,739	T180A	probably benign	Het
Parp9	A	T	16: 35,947,933	H161L	probably damaging	Het
Pkhd1l1	A	G	15: 44,529,143	N1625D	probably benign	Het
Rdx	T	C	9: 52,063,654	F30S	probably damaging	Het
Smo	T	A	6: 29,736,174	V55E	probably benign	Het
Sox9	C	A	11: 112,782,872	N96K	probably damaging	Het
Spp2	T	G	1: 88,417,294		probably null	Het
Tex46	A	G	4: 136,612,850	N82S	probably benign	Het
Timm22	C	T	11: 76,407,325	L41F	possibly damaging	Het
Tmem30a	A	T	9: 79,774,265	Y207*	probably null	Het
Tmem70	T	C	1: 16,677,307	V216A	probably damaging	Het
Tspan18	T	C	2: 93,209,957	N151S	probably benign	Het
Vmn2r90	T	C	17: 17,728,102	C537R	probably damaging	Het
Vps50	A	G	6: 3,545,583	Y339C	probably damaging	Het
Zp2	C	T	7: 120,133,922	G599R	possibly 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
R5657:Clca3b	UTSW	3	144827383	missense	probably benign	0.25
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
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'- TGCCTGGAGAAAACAGCCTC -3'
(R):5'- CCAAGAAGAGTTGTCACTGAGG -3'

Sequencing Primer
(F):5'- CAGCCTCTAGTCAGTTCAATGAG -3'
(R):5'- GAAGCTTCCAAACTGGTTCTGAG -3'

Posted On

2018-07-24