Mutagenetix > Incidental Mutation

Incidental Mutation 'R4691:Clca3b'

354896

Institutional Source

Beutler Lab

Gene Symbol

Clca3b

Ensembl Gene

ENSMUSG00000037033

Gene Name

chloride channel accessory 3B

Synonyms

Clca4

MMRRC Submission

041942-MU

Accession Numbers

Essential gene?

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

Stock #

R4691 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

144822623-144849357 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 144839092 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 378 (T378I)

Ref Sequence

ENSEMBL: ENSMUSP00000124581 (fasta)

Gene Model

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

AlphaFold

E9PUL3

Predicted Effect

probably benign
Transcript: ENSMUST00000159989
AA Change: T378I

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000124581
Gene: ENSMUSG00000037033
AA Change: T378I

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

97% (70/72)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530032D15Rik	C	T	1: 85,088,800		probably benign	Het
Abca13	A	T	11: 9,434,195	R3882S	probably damaging	Het
Adamts2	G	T	11: 50,756,696	V299F	probably damaging	Het
Ankrd50	A	G	3: 38,483,010	S65P	probably benign	Het
Ap4e1	T	C	2: 127,061,871	C898R	probably benign	Het
Arel1	A	T	12: 84,930,249		probably null	Het
Bag6	T	A	17: 35,139,248	V164D	probably damaging	Het
C2cd5	A	G	6: 143,030,148	S769P	possibly damaging	Het
Cables1	C	T	18: 11,840,523	Q240*	probably null	Het
Ccnb1-ps	T	A	7: 42,106,092		noncoding transcript	Het
Ccz1	A	T	5: 143,991,562	I390N	possibly damaging	Het
Ces1a	T	C	8: 93,032,659	H283R	probably benign	Het
Cpne2	A	T	8: 94,558,221	I342F	probably damaging	Het
Cyp2d9	A	G	15: 82,455,832	D141G	probably damaging	Het
Ddias	T	A	7: 92,858,816	K630N	probably damaging	Het
Dennd4b	A	G	3: 90,272,312	T626A	probably damaging	Het
Disc1	T	C	8: 125,148,447	V554A	possibly damaging	Het
Dnah10	A	G	5: 124,775,517	T1880A	probably damaging	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Het
Epop	C	T	11: 97,628,893	G130D	possibly damaging	Het
Erap1	T	C	13: 74,673,692	L722P	probably damaging	Het
Eya4	T	A	10: 23,140,068	T334S	probably benign	Het
Ezr	T	C	17: 6,759,562	I5V	probably benign	Het
Fam53c	A	C	18: 34,768,690	E220A	probably damaging	Het
Galnt12	T	C	4: 47,104,143	S134P	probably damaging	Het
Gcfc2	T	A	6: 81,941,427	L366*	probably null	Het
Gins4	T	A	8: 23,237,059	D6V	probably benign	Het
Gm1113	T	C	9: 35,516,862	S106G	possibly damaging	Het
Gm5155	T	A	7: 17,908,966	S434T	possibly damaging	Het
Grid1	A	G	14: 35,569,557	H807R	probably benign	Het
H2-T22	GTTTT	GTTT	17: 36,041,570		probably null	Het
Ighv1-66	T	C	12: 115,593,309	Y51C	probably benign	Het
Inpp4b	A	T	8: 82,122,653	Y901F	probably damaging	Het
Irf2	T	A	8: 46,846,187	S339T	probably damaging	Het
Itgae	G	T	11: 73,119,519	G612*	probably null	Het
Kdr	T	C	5: 75,944,599	K1037R	possibly damaging	Het
Mro	A	T	18: 73,873,326	M115L	probably benign	Het
Myo5a	A	G	9: 75,180,156	E1098G	probably damaging	Het
Nkx2-1	T	A	12: 56,533,565	M197L	probably benign	Het
Olfr58	T	C	9: 19,783,382	I83T	probably benign	Het
Pank2	T	A	2: 131,296,281	F430L	possibly damaging	Het
Pcx	T	A	19: 4,619,477	V794E	probably damaging	Het
Pdgfd	C	T	9: 6,288,556	P70L	probably damaging	Het
Pla2g4e	T	C	2: 120,174,300	Y521C	probably damaging	Het
Pou5f1	T	A	17: 35,506,131	F11Y	probably damaging	Het
Prdm9	A	G	17: 15,553,378	M252T	probably benign	Het
Ptk2b	C	T	14: 66,157,069	G859S	probably benign	Het
Rad51ap1	A	G	6: 126,927,553	S123P	probably benign	Het
Robo3	T	C	9: 37,425,218	E418G	probably damaging	Het
Sos2	C	T	12: 69,616,328	R631H	probably damaging	Het
St3gal2	C	T	8: 110,957,785	T25I	probably benign	Het
Stra6l	G	A	4: 45,882,851	A521T	probably benign	Het
Syt7	T	A	19: 10,426,481	L177Q	probably damaging	Het
Tet2	T	A	3: 133,486,083	Q863H	possibly damaging	Het
Tmem232	T	C	17: 65,265,242	K585E	possibly damaging	Het
Trpc6	A	C	9: 8,652,978	E595A	probably damaging	Het
Txnl1	A	G	18: 63,671,679	V248A	possibly damaging	Het
Vmn2r72	A	T	7: 85,737,911	L815*	probably null	Het
Vmn2r81	C	T	10: 79,293,377	Q701*	probably null	Het
Vps13c	T	C	9: 67,952,935	V2811A	possibly damaging	Het
Zfp354a	A	G	11: 51,070,237	E425G	probably damaging	Het
Zfp617	A	T	8: 71,932,815	T330S	probably benign	Het
Zfp663	G	T	2: 165,359,130		probably benign	Het
Zfp84	T	C	7: 29,777,080	L399P	probably damaging	Het
Zfp869	A	T	8: 69,706,863	C353*	probably null	Het
Zscan22	C	T	7: 12,906,561	A85V	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
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
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'- TGGGGAAGGCTACTTTCTCTACAC -3'
(R):5'- TTTTGTTTAAACAGGGAAGCCC -3'

Sequencing Primer
(F):5'- GGAAGGCTACTTTCTCTACACAGATG -3'
(R):5'- GAAGCCCCATCACTCGTCTG -3'

Posted On

2015-10-21