Mutagenetix > Incidental Mutation

Incidental Mutation 'R8008:Clca3b'

616731

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 #

R8008 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

144822623-144849357 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 144844609 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 192 (T192S)

Ref Sequence

ENSEMBL: ENSMUSP00000124581 (fasta)

Gene Model

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

AlphaFold

E9PUL3

Predicted Effect

probably benign
Transcript: ENSMUST00000159989
AA Change: T192S

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000124581
Gene: ENSMUSG00000037033
AA Change: T192S

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001C19Rik	T	A	17: 47,436,736	E28V	probably damaging	Het
2210408I21Rik	A	T	13: 77,281,115	I774F	probably benign	Het
Alpi	A	G	1: 87,098,662	S536P	unknown	Het
Ankar	A	G	1: 72,666,484	V789A	possibly damaging	Het
Atp5b	C	A	10: 128,083,408	Q28K	unknown	Het
Brpf1	T	C	6: 113,319,089	V781A	probably benign	Het
Cd177	G	A	7: 24,752,349	S414L	not run	Het
Coro2a	A	T	4: 46,551,349	S119T	probably damaging	Het
Cpped1	T	C	16: 11,828,396	N164S	probably damaging	Het
Crybg2	T	A	4: 134,091,104	N1390K	probably damaging	Het
Epn2	C	T	11: 61,546,666	A27T	probably damaging	Het
Esp34	T	C	17: 38,559,599	F128S	possibly damaging	Het
Evpl	T	A	11: 116,230,472	N410Y	probably null	Het
Fam71d	T	A	12: 78,715,043	D160E	probably benign	Het
Flnb	A	G	14: 7,892,155	Y608C	probably damaging	Het
Fpr3	T	C	17: 17,971,453	S329P	probably benign	Het
Frem2	T	A	3: 53,652,910	N1392I	probably damaging	Het
Gm35339	G	A	15: 76,360,632	E1125K		Het
Gpi1	G	T	7: 34,218,301	N249K	probably damaging	Het
Gpr87	T	C	3: 59,180,045	N13S	probably benign	Het
Gys2	T	C	6: 142,454,517	T323A	probably damaging	Het
Iqgap3	T	C	3: 88,109,463	I1084T	probably damaging	Het
Lrfn4	C	G	19: 4,613,537	G323A	probably benign	Het
Lrrc4c	A	T	2: 97,630,249	S407C	possibly damaging	Het
Map3k20	A	T	2: 72,438,269	Q540L	probably benign	Het
Myom1	T	C	17: 71,100,062	V1158A	probably benign	Het
Ncor2	T	C	5: 125,067,919	D378G	unknown	Het
Nhsl1	T	A	10: 18,408,438	D42E	probably damaging	Het
Nr0b2	C	A	4: 133,556,028	A192E	probably benign	Het
Nt5c1b	A	G	12: 10,375,000	D182G	possibly damaging	Het
Olfr104-ps	T	C	17: 37,362,374	S86P	probably damaging	Het
Olfr1220	A	T	2: 89,097,715	C71S	probably benign	Het
Olfr1475	T	C	19: 13,479,806	T131A	probably benign	Het
Olfr178	T	C	16: 58,889,888	T111A	probably benign	Het
Olfr874	A	T	9: 37,746,793	I220F	probably damaging	Het
Pepd	A	G	7: 35,021,701	N250S	probably benign	Het
Plscr4	C	T	9: 92,490,790	R322*	probably null	Het
Pmp22	C	T	11: 63,158,407	R159C	probably damaging	Het
Pou3f1	C	T	4: 124,658,971	A422V	unknown	Het
Rab11fip3	A	G	17: 26,067,982	L399P	probably damaging	Het
Rragc	A	G	4: 123,935,547	D352G	probably damaging	Het
Ryr2	A	G	13: 11,657,094	V3420A	probably benign	Het
Sez6	T	A	11: 77,973,256	Y521*	probably null	Het
Smc4	T	C	3: 69,007,312	V86A	probably damaging	Het
Stap2	T	A	17: 55,997,790	M331L	probably benign	Het
Syt8	G	A	7: 142,438,522	R89H	probably benign	Het
Tcof1	G	C	18: 60,829,051	A702G	possibly damaging	Het
Trim21	G	T	7: 102,559,976	T280K	probably benign	Het
Trim36	C	A	18: 46,172,489	V476F	probably benign	Het
Troap	G	T	15: 99,075,630	R56L	probably benign	Het
Ttn	A	T	2: 76,836,786	I11492K	unknown	Het
Tuft1	T	C	3: 94,614,133	T390A	probably damaging	Het
Ucp1	T	C	8: 83,294,011	I150T	probably benign	Het
Usp17lb	A	T	7: 104,841,274	C149S	possibly damaging	Het
Vmn1r159	A	T	7: 22,843,240	N122K	possibly damaging	Het
Vmn1r237	T	C	17: 21,314,194	C60R	probably damaging	Het
Wdr12	A	T	1: 60,089,335	Y85*	probably null	Het
Wdr3	T	C	3: 100,154,936	D221G	probably benign	Het
Zan	T	C	5: 137,405,362	E3974G	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
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
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'- GCTTAGCTCTATGCAAGGATTCC -3'
(R):5'- TGACCAAGAAGAGTTGTCACTG -3'

Sequencing Primer
(F):5'- CTCTATGCAAGGATTCCATTGTGAG -3'
(R):5'- TTGTCACTGAGGAAAAGATTTCAGG -3'

Posted On

2020-01-23