Mutagenetix > Incidental Mutation

Incidental Mutation 'R1641:Clca3b'

173521

Institutional Source

Beutler Lab

Gene Symbol

Clca3b

Ensembl Gene

ENSMUSG00000037033

Gene Name

chloride channel accessory 3B

Synonyms

Clca4

MMRRC Submission

039677-MU

Accession Numbers

Essential gene?

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

Stock #

R1641 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

144822623-144849357 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 144823513 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 800 (M800K)

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

possibly damaging
Transcript: ENSMUST00000159989
AA Change: M800K

PolyPhen 2 Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000124581
Gene: ENSMUSG00000037033
AA Change: M800K

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: 99.0%
3x: 98.0%
10x: 95.3%
20x: 89.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	A	G	15: 8,228,959	T2230A	probably benign	Het
Aasdh	T	A	5: 76,891,779	T228S	probably benign	Het
Adamts2	C	T	11: 50,792,785	P965S	probably damaging	Het
Ankrd11	A	G	8: 122,891,746	I1768T	probably benign	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Baz2b	A	T	2: 59,912,890	L1579Q	probably damaging	Het
Btbd7	A	G	12: 102,790,775	V684A	probably damaging	Het
Camk1g	T	A	1: 193,356,357	I86F	probably benign	Het
Capn13	A	T	17: 73,382,894	S41T	possibly damaging	Het
Cep192	C	A	18: 67,847,433	L1422I	probably damaging	Het
Chaf1a	T	C	17: 56,047,380	F217L	unknown	Het
Crocc	A	G	4: 141,017,077	V1836A	probably benign	Het
Csmd2	G	A	4: 128,483,395	V2023M	possibly damaging	Het
Cul9	A	G	17: 46,543,560	V72A	possibly damaging	Het
Ddx52	T	C	11: 83,943,443		probably null	Het
Dennd5b	A	C	6: 149,068,205	V250G	probably damaging	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Gtpbp4	A	T	13: 8,973,249	M593K	probably benign	Het
Il21	A	G	3: 37,232,532	F12L	probably benign	Het
Lrit2	T	A	14: 37,069,148	N261K	probably benign	Het
Lrrc39	G	T	3: 116,570,913	C151F	probably damaging	Het
Lsm14a	C	A	7: 34,351,374	R426L	probably damaging	Het
Maml1	G	A	11: 50,266,947	P134S	probably benign	Het
Map3k13	T	C	16: 21,903,792	C235R	probably damaging	Het
Naip2	C	T	13: 100,161,981	A516T	possibly damaging	Het
Nsmaf	T	C	4: 6,409,884	E663G	probably benign	Het
Ntrk3	T	C	7: 78,356,074	N513S	probably damaging	Het
Nufip1	T	G	14: 76,126,252	N305K	possibly damaging	Het
Olfr121	C	T	17: 37,752,025	T57I	possibly damaging	Het
Olfr1257	A	T	2: 89,881,401	T192S	probably benign	Het
Olfr575	T	A	7: 102,954,968	D218V	probably benign	Het
Olfr694	T	A	7: 106,689,711	T7S	probably benign	Het
Olfr823	A	T	10: 130,112,003	Y262*	probably null	Het
Pi4ka	A	G	16: 17,377,030	V168A	probably benign	Het
Prex2	T	C	1: 11,231,772	V1433A	probably damaging	Het
Prl7a1	A	T	13: 27,633,629	D217E	probably damaging	Het
Prr3	G	A	17: 35,974,592	R86*	probably null	Het
Ptprz1	T	C	6: 23,049,606	F1350L	probably damaging	Het
R3hcc1l	T	C	19: 42,563,607	S348P	possibly damaging	Het
Rag2	A	T	2: 101,629,615	Q90L	probably benign	Het
Scel	T	C	14: 103,533,316	L62P	probably damaging	Het
Serpini1	A	T	3: 75,614,670	E156V	possibly damaging	Het
Skint4	T	A	4: 112,136,043	I321K	possibly damaging	Het
Slc28a2	A	G	2: 122,455,617	D478G	probably damaging	Het
Sppl2b	G	T	10: 80,865,131	V164F	probably damaging	Het
Traf5	T	A	1: 191,997,509	N527I	probably benign	Het
Ttc3	T	A	16: 94,443,317	D17E	probably benign	Het
Txlnb	G	A	10: 17,806,773	A148T	possibly damaging	Het
Ubtf	A	G	11: 102,310,931	Y256H	probably damaging	Het
Usp25	T	C	16: 77,071,671	F320S	possibly damaging	Het
Utp14b	T	C	1: 78,665,939	V518A	probably benign	Het
Utp20	A	G	10: 88,757,972	V2192A	possibly damaging	Het
Vmn1r173	T	A	7: 23,703,108	M256K	probably benign	Het
Vmn2r114	T	A	17: 23,296,988	M510L	probably benign	Het
Xdh	T	A	17: 73,926,552	Q189L	probably benign	Het
Zfat	C	T	15: 68,180,110	A605T	probably benign	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
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
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'- GGCTTCATTGTCAGCCTGGATTGC -3'
(R):5'- AGCGTCTGTGACCTTTGACTCTTG -3'

Sequencing Primer
(F):5'- CAATGTAGACTTGGGTGCCATTTTC -3'
(R):5'- GTCCTCCCTGTATGTAACTGTG -3'

Posted On

2014-04-24