Mutagenetix > Incidental Mutation

Incidental Mutation 'R6677:Clca3b'

527306

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: 0.055) question?

Stock #

R6677 (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 144823384 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 843 (E843V)

Ref Sequence

ENSEMBL: ENSMUSP00000124581 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029929] [ENSMUST00000159989]

AlphaFold

E9PUL3

Predicted Effect

probably benign
Transcript: ENSMUST00000029929

SMART Domains

Protein: ENSMUSP00000029929
Gene: ENSMUSG00000028262

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
VWA	306	478	1.5e-21	SMART
FN3	758	857	5.49e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000159989
AA Change: E843V

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000124581
Gene: ENSMUSG00000037033
AA Change: E843V

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: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.7%

Validation Efficiency

100% (31/31)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	G	T	8: 86,534,752	H713Q	possibly damaging	Het
Akap9	A	G	5: 4,029,869	T1874A	probably benign	Het
Atl1	A	G	12: 69,953,444	I289M	probably damaging	Het
Atp12a	A	G	14: 56,380,854	D654G	probably damaging	Het
Bbox1	C	A	2: 110,305,425	D70Y	probably damaging	Het
Blzf1	A	T	1: 164,302,612	V50D	possibly damaging	Het
C130060K24Rik	A	T	6: 65,456,245	I350F	probably benign	Het
Cfap65	C	A	1: 74,904,685	D1556Y	probably damaging	Het
Chrm2	A	T	6: 36,524,092	N295Y	probably damaging	Het
Enpp3	T	A	10: 24,777,957	N701Y	possibly damaging	Het
Fbxo30	G	T	10: 11,290,636	L367F	possibly damaging	Het
Gm4841	A	T	18: 60,270,580	F147Y	probably damaging	Het
Gm8251	G	T	1: 44,058,699	R1080S	probably benign	Het
Lama1	G	A	17: 67,795,233	V1951I	probably benign	Het
Mgat4b	A	G	11: 50,233,071		probably null	Het
Mpp3	A	G	11: 102,008,618	V359A	probably benign	Het
Nhsl1	T	A	10: 18,525,862	D911E	probably damaging	Het
Olfr537-ps1	T	G	7: 140,538,552	F12V	probably damaging	Het
Polr1b	T	C	2: 129,120,211		probably benign	Het
Rnd2	C	T	11: 101,468,999	L57F	probably damaging	Het
Saxo2	T	C	7: 82,635,276	R125G	probably benign	Het
Scn8a	A	G	15: 100,969,072	D103G	probably damaging	Het
Sfxn2	A	T	19: 46,582,528	N9I	possibly damaging	Het
Shroom1	G	A	11: 53,463,516	A88T	possibly damaging	Het
Slc24a5	G	T	2: 125,080,695	A126S	possibly damaging	Het
Ssfa2	A	G	2: 79,655,101	T500A	possibly damaging	Het
Sult5a1	A	G	8: 123,149,278	F100L	probably benign	Het
Syne1	T	C	10: 5,040,942	Q579R	possibly damaging	Het
Vmn1r113	G	A	7: 20,787,978	G232S	probably benign	Het
Zic5	C	G	14: 122,465,154	R55P	unknown	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
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'- ACACTTTGGTACCCAGACCAG -3'
(R):5'- CGCTAACGAACGTGATGTTTC -3'

Sequencing Primer
(F):5'- TGCTGGGGGTACTCAGAC -3'
(R):5'- ACGAACGTGATGTTTCTCTTTTCTAG -3'

Posted On

2018-07-23