Mutagenetix > Incidental Mutation

Incidental Mutation 'R2240:Clca3b'

240302

Institutional Source

Beutler Lab

Gene Symbol

Clca3b

Ensembl Gene

ENSMUSG00000037033

Gene Name

chloride channel accessory 3B

Synonyms

Clca4

MMRRC Submission

040240-MU

Accession Numbers

Essential gene?

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

Stock #

R2240 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

144822623-144849357 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 144825935 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 703 (K703E)

Ref Sequence

ENSEMBL: ENSMUSP00000124581 (fasta)

Gene Model

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

AlphaFold

E9PUL3

Predicted Effect

probably benign
Transcript: ENSMUST00000159989
AA Change: K703E

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000124581
Gene: ENSMUSG00000037033
AA Change: K703E

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: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	A	17: 24,376,443	I318N	probably damaging	Het
Abl1	A	G	2: 31,800,505	K679E	probably benign	Het
Actr8	A	G	14: 29,989,757	H420R	possibly damaging	Het
Arhgap29	T	A	3: 122,011,453	V897D	probably benign	Het
Bckdk	C	A	7: 127,905,418	R105S	probably damaging	Het
Bicc1	A	G	10: 70,946,803		probably null	Het
Brd4	T	C	17: 32,213,639		probably benign	Het
Camk2g	T	C	14: 20,765,446	E184G	probably damaging	Het
Camta1	T	C	4: 151,084,575	S240G	possibly damaging	Het
Cbx7	C	A	15: 79,918,357	A240S	probably damaging	Het
Ccdc181	A	T	1: 164,280,027	D93V	probably damaging	Het
Ces2g	A	C	8: 104,962,502	S37R	probably benign	Het
Clca1	T	A	3: 145,008,985	R624W	probably damaging	Het
Clec2h	T	C	6: 128,675,882	V204A	probably benign	Het
Cltb	T	C	13: 54,599,154	N3S	possibly damaging	Het
Col9a1	A	G	1: 24,179,501	I65V	unknown	Het
D430041D05Rik	C	T	2: 104,156,816	R1895Q	probably damaging	Het
Dnah1	T	C	14: 31,299,974	S1191G	probably benign	Het
Ehf	G	A	2: 103,274,075	P163S	probably benign	Het
Fam170b	A	C	14: 32,835,868	H220P	probably damaging	Het
Fastkd1	G	A	2: 69,696,953	T598I	probably benign	Het
Fignl2	C	T	15: 101,054,035	G122D	probably damaging	Het
Foxp4	C	A	17: 47,871,276	V530L	unknown	Het
Gcnt1	G	T	19: 17,329,331	D343E	possibly damaging	Het
Gja8	T	G	3: 96,920,302	N15H	probably benign	Het
Gm128	T	C	3: 95,240,932	E17G	probably benign	Het
Gm13212	C	T	4: 145,585,321		probably benign	Het
Gnl1	T	C	17: 35,982,679	V252A	probably benign	Het
Gpld1	G	A	13: 24,982,507		probably null	Het
Gpr179	A	G	11: 97,351,733	L95P	probably damaging	Het
Gtf2a1	A	T	12: 91,586,739	D31E	possibly damaging	Het
Il12a	T	A	3: 68,694,184	Y58*	probably null	Het
Il1r2	T	C	1: 40,105,470	W106R	probably damaging	Het
Kif26b	A	G	1: 178,715,923	S374G	probably benign	Het
Mafb	A	T	2: 160,366,027	V217E	probably damaging	Het
Mapk13	T	A	17: 28,778,111	D292E	probably damaging	Het
Matn2	A	G	15: 34,433,063	D871G	probably damaging	Het
Mdn1	C	A	4: 32,765,701	T5220K	possibly damaging	Het
Mfsd6	T	C	1: 52,660,819	I723M	probably damaging	Het
Mfsd7a	A	G	5: 108,444,707	S234P	probably benign	Het
Mia2	G	A	12: 59,107,882	S127N	probably benign	Het
Mpeg1	A	C	19: 12,463,038	E620A	probably damaging	Het
Mrgprb3	A	T	7: 48,643,641	F54Y	probably damaging	Het
Mtx2	A	G	2: 74,869,352	I156V	probably benign	Het
Neurog1	T	C	13: 56,251,535	E133G	probably damaging	Het
Nid2	G	A	14: 19,805,914	D1236N	probably damaging	Het
Nif3l1	A	G	1: 58,452,129	T213A	probably benign	Het
Olfr866	A	G	9: 20,027,144	S265P	probably damaging	Het
Otog	A	G	7: 46,241,029	M1V	probably null	Het
Pde4dip	C	T	3: 97,724,164	R1143K	probably benign	Het
Pgam2	T	C	11: 5,803,265		probably benign	Het
Plec	T	C	15: 76,206,050	D30G	probably damaging	Het
Pramel5	C	A	4: 144,272,936	E194*	probably null	Het
Prss22	T	A	17: 23,996,781	S56C	probably damaging	Het
Rab23	A	G	1: 33,739,325	N216S	probably benign	Het
Rasgrf1	A	T	9: 89,976,762	E491V	probably damaging	Het
Rbbp8	C	T	18: 11,677,669	T76I	probably damaging	Het
Rtn2	G	A	7: 19,286,829		probably null	Het
Sdr39u1	A	T	14: 55,899,667	N62K	probably damaging	Het
Secisbp2l	C	T	2: 125,740,737	G933D	possibly damaging	Het
Slc26a3	T	C	12: 31,457,072	V342A	probably damaging	Het
Snx30	G	T	4: 59,886,515	C308F	probably damaging	Het
Timd2	A	T	11: 46,678,216	V205E	probably benign	Het
Tmcc1	C	CAT	6: 116,042,870		probably null	Het
Tnfaip6	G	A	2: 52,050,914	D156N	probably benign	Het
Uggt2	T	A	14: 118,995,049	E1463D	probably damaging	Het
Urb2	C	A	8: 124,030,139	P862T	probably benign	Het
Vmn1r64	A	T	7: 5,884,370	L58*	probably null	Het
Vmn2r3	C	A	3: 64,259,062	G883C	probably benign	Het
Vps13d	A	T	4: 145,110,895	C2707S	possibly damaging	Het
Wdr11	G	T	7: 129,605,694		probably null	Het
Wdr37	T	A	13: 8,861,232		probably benign	Het
Wtap	G	A	17: 12,975,465	Q95*	probably null	Het
Zfp26	A	T	9: 20,437,267	L667H	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
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'- TTGAGGGGAGTTCCAAAACATG -3'
(R):5'- TGAACTACGAAACCATGGCC -3'

Sequencing Primer
(F):5'- GTTCCAAAACATGCATAAACGTGTC -3'
(R):5'- GCCACGCCCTGTACTCAC -3'

Posted On

2014-10-15