Mutagenetix > Incidental Mutation

Incidental Mutation 'R7723:Scn3b'

595347

Institutional Source

Beutler Lab

Gene Symbol

Scn3b

Ensembl Gene

ENSMUSG00000049281

Gene Name

sodium channel, voltage-gated, type III, beta

Synonyms

4833414B02Rik, 1110001K16Rik

MMRRC Submission

045779-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7723 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

40180513-40202914 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 40199693 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Stop codon at position 203 (S203*)

Ref Sequence

ENSEMBL: ENSMUSP00000051627 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045682] [ENSMUST00000049941] [ENSMUST00000114956] [ENSMUST00000119373] [ENSMUST00000121357] [ENSMUST00000165104] [ENSMUST00000171835] [ENSMUST00000176185] [ENSMUST00000216398] [ENSMUST00000216821]

AlphaFold

Q8BHK2

Predicted Effect

probably benign
Transcript: ENSMUST00000045682

SMART Domains

Protein: ENSMUSP00000048126
Gene: ENSMUSG00000040111

Domain	Start	End	E-Value	Type
low complexity region	31	49	N/A	INTRINSIC
low complexity region	104	117	N/A	INTRINSIC
low complexity region	123	141	N/A	INTRINSIC
low complexity region	203	226	N/A	INTRINSIC
GRAM	240	307	1.54e-28	SMART
low complexity region	375	385	N/A	INTRINSIC
Pfam:DUF4782	519	667	1.6e-38	PFAM
low complexity region	696	710	N/A	INTRINSIC
transmembrane domain	768	790	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000049941
AA Change: S203*

SMART Domains

Protein: ENSMUSP00000051627
Gene: ENSMUSG00000049281
AA Change: S203*

Domain	Start	End	E-Value	Type
IG	30	140	5.08e-5	SMART
transmembrane domain	153	175	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000114956
AA Change: S203*

SMART Domains

Protein: ENSMUSP00000110606
Gene: ENSMUSG00000049281
AA Change: S203*

Domain	Start	End	E-Value	Type
IG	30	140	5.08e-5	SMART
transmembrane domain	153	175	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000119373

SMART Domains

Protein: ENSMUSP00000112489
Gene: ENSMUSG00000040111

Domain	Start	End	E-Value	Type
low complexity region	9	24	N/A	INTRINSIC
low complexity region	86	101	N/A	INTRINSIC
GRAM	126	193	1.54e-28	SMART
low complexity region	261	271	N/A	INTRINSIC
low complexity region	582	596	N/A	INTRINSIC
transmembrane domain	654	676	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121357

SMART Domains

Protein: ENSMUSP00000112564
Gene: ENSMUSG00000040111

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
low complexity region	55	78	N/A	INTRINSIC
GRAM	92	159	1.54e-28	SMART
low complexity region	227	237	N/A	INTRINSIC
low complexity region	548	562	N/A	INTRINSIC
transmembrane domain	620	642	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000137454

SMART Domains

Protein: ENSMUSP00000116871
Gene: ENSMUSG00000040111

Domain	Start	End	E-Value	Type
Pfam:DUF4782	130	278	2.3e-39	PFAM
low complexity region	307	321	N/A	INTRINSIC
transmembrane domain	379	401	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000165104

SMART Domains

Protein: ENSMUSP00000130050
Gene: ENSMUSG00000040111

Domain	Start	End	E-Value	Type
low complexity region	31	49	N/A	INTRINSIC
low complexity region	104	117	N/A	INTRINSIC
low complexity region	123	141	N/A	INTRINSIC
low complexity region	203	226	N/A	INTRINSIC
GRAM	240	307	1.54e-28	SMART
low complexity region	375	385	N/A	INTRINSIC
low complexity region	696	710	N/A	INTRINSIC
transmembrane domain	768	790	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000171835
AA Change: S203*

SMART Domains

Protein: ENSMUSP00000132933
Gene: ENSMUSG00000049281
AA Change: S203*

Domain	Start	End	E-Value	Type
IG	30	140	5.08e-5	SMART
transmembrane domain	153	175	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000176185
AA Change: S163*

SMART Domains

Protein: ENSMUSP00000135096
Gene: ENSMUSG00000049281
AA Change: S163*

Domain	Start	End	E-Value	Type
Pfam:ig	1	82	1.1e-5	PFAM
Pfam:V-set	1	102	1.8e-14	PFAM
transmembrane domain	113	135	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000176547
AA Change: S107*

Predicted Effect

probably null
Transcript: ENSMUST00000216398
AA Change: S45*

Predicted Effect

probably benign
Transcript: ENSMUST00000216821

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (57/57)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel beta subunit gene family, and influences the inactivation kinetics of the sodium channel. Two alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a ventricular arrhythmogenic phenotype with abnormal heart electrocardiography waveform features and sodium channel function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apbb1ip	G	A	2: 22,761,574 (GRCm39)		probably null	Het
Brinp3	C	T	1: 146,577,409 (GRCm39)	T148I	probably damaging	Het
C1qa	A	T	4: 136,623,744 (GRCm39)	C153*	probably null	Het
Camkk1	G	T	11: 72,928,058 (GRCm39)	R363L	probably benign	Het
Ccdc80	T	G	16: 44,946,798 (GRCm39)		probably null	Het
Cenpu	T	C	8: 47,029,349 (GRCm39)	S351P	probably damaging	Het
Chd9	C	T	8: 91,741,837 (GRCm39)	L1609F	unknown	Het
Cnr1	T	A	4: 33,944,416 (GRCm39)	I268N	probably damaging	Het
Cyp3a59	A	T	5: 146,016,154 (GRCm39)	I4F	probably benign	Het
Dph6	A	G	2: 114,475,236 (GRCm39)	V93A	probably damaging	Het
Egf	T	A	3: 129,499,786 (GRCm39)	M785L	probably benign	Het
Fbn1	A	T	2: 125,223,954 (GRCm39)	C598*	probably null	Het
Fer	T	C	17: 64,203,273 (GRCm39)	S68P	probably damaging	Het
Herc1	C	T	9: 66,279,158 (GRCm39)	T22I	probably benign	Het
Kat2b	A	G	17: 53,945,415 (GRCm39)	D278G	possibly damaging	Het
Kdm1a	C	T	4: 136,285,060 (GRCm39)	V520I	probably benign	Het
Lrrc4c	G	T	2: 97,460,999 (GRCm39)	V542L	possibly damaging	Het
Lrrtm3	T	C	10: 63,924,427 (GRCm39)	T247A	possibly damaging	Het
Macf1	T	C	4: 123,326,717 (GRCm39)	S4929G	probably benign	Het
Mbd4	A	T	6: 115,822,324 (GRCm39)	H428Q	possibly damaging	Het
Mink1	C	G	11: 70,503,736 (GRCm39)	Q1183E	probably benign	Het
Myo9a	C	T	9: 59,687,141 (GRCm39)	P82L	probably damaging	Het
Nts	T	C	10: 102,320,784 (GRCm39)	T102A	probably damaging	Het
Nup35	T	C	2: 80,486,375 (GRCm39)	I230T	possibly damaging	Het
Nwd2	A	T	5: 63,965,347 (GRCm39)	T1644S	possibly damaging	Het
Nynrin	T	A	14: 56,109,502 (GRCm39)	N1536K	possibly damaging	Het
Or10d5j	A	T	9: 39,867,920 (GRCm39)	Y104N	possibly damaging	Het
Or13p10	A	G	4: 118,522,914 (GRCm39)	S67G	probably benign	Het
Or2at4	A	G	7: 99,384,884 (GRCm39)	Y178C	possibly damaging	Het
Or2l13b	A	T	16: 19,349,358 (GRCm39)	L104*	probably null	Het
Or5d44	A	C	2: 88,141,819 (GRCm39)	V107G	possibly damaging	Het
Palld	C	T	8: 62,164,492 (GRCm39)	V400I	probably damaging	Het
Pank2	T	C	2: 131,122,258 (GRCm39)	V261A	probably damaging	Het
Pcdhb3	C	A	18: 37,435,565 (GRCm39)	N510K	probably damaging	Het
Pfkfb2	A	T	1: 130,635,325 (GRCm39)	Y79N	probably damaging	Het
Phc2	C	T	4: 128,616,882 (GRCm39)	A385V	probably benign	Het
Prob1	T	C	18: 35,785,942 (GRCm39)	T771A	possibly damaging	Het
Psmb6	T	C	11: 70,417,396 (GRCm39)	V109A	possibly damaging	Het
Ptcd1	T	C	5: 145,091,639 (GRCm39)	T487A	probably damaging	Het
Ralgapa1	A	T	12: 55,788,298 (GRCm39)	M595K	probably benign	Het
Rps12	A	T	10: 23,662,752 (GRCm39)	V14D	probably benign	Het
Serinc1	G	A	10: 57,403,918 (GRCm39)	P15L	probably benign	Het
Six2	A	G	17: 85,995,103 (GRCm39)	I93T	probably benign	Het
Slco1a1	T	A	6: 141,854,795 (GRCm39)	I619F	probably damaging	Het
Snx25	A	C	8: 46,491,516 (GRCm39)	V858G	probably damaging	Het
Sspo	G	A	6: 48,441,572 (GRCm39)	C1903Y	probably damaging	Het
Tas2r116	T	A	6: 132,832,867 (GRCm39)	I156N	probably benign	Het
Tasp1	G	T	2: 139,827,051 (GRCm39)	T189K	probably damaging	Het
Tdrd6	A	T	17: 43,936,851 (GRCm39)	M1399K	probably benign	Het
Tecta	C	A	9: 42,278,232 (GRCm39)	C1092F	probably damaging	Het
Tmem150a	G	A	6: 72,336,057 (GRCm39)	V215I	probably damaging	Het
Tmem176b	C	T	6: 48,812,869 (GRCm39)	V109I	probably benign	Het
Trav8d-1	T	A	14: 53,016,321 (GRCm39)	I69K	probably damaging	Het
Ttn	A	T	2: 76,638,419 (GRCm39)	L13954I	probably damaging	Het
Veph1	C	A	3: 66,113,093 (GRCm39)	C237F	possibly damaging	Het
Vmn1r121	G	A	7: 20,832,119 (GRCm39)	T107I	probably damaging	Het
Zdhhc13	G	A	7: 48,458,567 (GRCm39)	M300I	probably benign	Het
Zfp608	T	C	18: 55,030,673 (GRCm39)	D1089G	probably damaging	Het

Other mutations in Scn3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02825:Scn3b	APN	9	40,188,441 (GRCm39)	missense	probably damaging	1.00
IGL02998:Scn3b	APN	9	40,199,713 (GRCm39)	missense	possibly damaging	0.48
IGL03177:Scn3b	APN	9	40,181,338 (GRCm39)	missense	probably benign	0.00
R1482:Scn3b	UTSW	9	40,190,792 (GRCm39)	missense	probably damaging	1.00
R1883:Scn3b	UTSW	9	40,190,669 (GRCm39)	critical splice acceptor site	probably null
R2111:Scn3b	UTSW	9	40,193,741 (GRCm39)	missense	probably benign	0.42
R4601:Scn3b	UTSW	9	40,199,719 (GRCm39)	missense	probably damaging	1.00
R7085:Scn3b	UTSW	9	40,188,394 (GRCm39)	missense	probably damaging	1.00
R7966:Scn3b	UTSW	9	40,193,846 (GRCm39)	missense	probably benign	0.20
R7993:Scn3b	UTSW	9	40,193,840 (GRCm39)	missense	possibly damaging	0.66
R9402:Scn3b	UTSW	9	40,193,852 (GRCm39)	missense	probably damaging	0.96
R9563:Scn3b	UTSW	9	40,193,729 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AAGAGTCAGATATTGCTGCTGGG -3'
(R):5'- TAGAGAGCATTGTGATGTGACC -3'

Sequencing Primer
(F):5'- GGGATATTACTCTATTTGCTGAAGC -3'
(R):5'- TGTGACCATTAACGTAGAGTACCCG -3'

Posted On

2019-11-12