Mutagenetix > Incidental Mutation

Incidental Mutation 'R7833:Erc1'

605774

Institutional Source

Beutler Lab

Gene Symbol

Erc1

Ensembl Gene

ENSMUSG00000030172

Gene Name

ELKS/RAB6-interacting/CAST family member 1

Synonyms

B430107L16Rik, Rab6ip2, 5033405M01Rik, RAB6IP2A, 9630025C19Rik, RAB6IP2B

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7833 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119570796-119848167 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 119824486 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 190 (W190*)

Ref Sequence

ENSEMBL: ENSMUSP00000032279 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032279] [ENSMUST00000079582] [ENSMUST00000183703] [ENSMUST00000183880] [ENSMUST00000183911] [ENSMUST00000184838] [ENSMUST00000184864] [ENSMUST00000185139] [ENSMUST00000185143]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000032279
AA Change: W190*

SMART Domains

Protein: ENSMUSP00000032279
Gene: ENSMUSG00000030172
AA Change: W190*

Domain	Start	End	E-Value	Type
low complexity region	13	34	N/A	INTRINSIC
low complexity region	35	51	N/A	INTRINSIC
Pfam:Cast	154	466	1.8e-142	PFAM
Pfam:Cast	453	838	3.5e-163	PFAM
Pfam:Cast	833	986	8e-61	PFAM
Pfam:RBD-FIP	1072	1112	1.5e-14	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000079582
AA Change: W39*

SMART Domains

Protein: ENSMUSP00000078534
Gene: ENSMUSG00000030172
AA Change: W39*

Domain	Start	End	E-Value	Type
Pfam:Cast	3	349	8.9e-149	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000183703
AA Change: W190*

SMART Domains

Protein: ENSMUSP00000139031
Gene: ENSMUSG00000030172
AA Change: W190*

Domain	Start	End	E-Value	Type
low complexity region	13	34	N/A	INTRINSIC
low complexity region	35	51	N/A	INTRINSIC
Pfam:Cast	154	986	6.9e-291	PFAM
Pfam:RBD-FIP	1072	1112	1.5e-14	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000183880
AA Change: W190*

SMART Domains

Protein: ENSMUSP00000138823
Gene: ENSMUSG00000030172
AA Change: W190*

Domain	Start	End	E-Value	Type
low complexity region	13	34	N/A	INTRINSIC
low complexity region	35	51	N/A	INTRINSIC
Pfam:Cast	154	914	4.3e-296	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000183911
AA Change: W190*

SMART Domains

Protein: ENSMUSP00000139118
Gene: ENSMUSG00000030172
AA Change: W190*

Domain	Start	End	E-Value	Type
low complexity region	13	34	N/A	INTRINSIC
low complexity region	35	51	N/A	INTRINSIC
Pfam:Cast	154	954	4.2e-293	PFAM
Pfam:RBD-FIP	1040	1080	8.5e-14	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000184838
AA Change: W190*

SMART Domains

Protein: ENSMUSP00000139030
Gene: ENSMUSG00000030172
AA Change: W190*

Domain	Start	End	E-Value	Type
low complexity region	13	34	N/A	INTRINSIC
low complexity region	35	51	N/A	INTRINSIC
Pfam:Cast	154	942	3.5e-291	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000184864
AA Change: W190*

SMART Domains

Protein: ENSMUSP00000139256
Gene: ENSMUSG00000030172
AA Change: W190*

Domain	Start	End	E-Value	Type
low complexity region	13	34	N/A	INTRINSIC
low complexity region	35	51	N/A	INTRINSIC
Pfam:Cast	154	982	2e-288	PFAM
Pfam:RBD-FIP	1068	1108	8.7e-14	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000185139
AA Change: W190*

SMART Domains

Protein: ENSMUSP00000139152
Gene: ENSMUSG00000030172
AA Change: W190*

Domain	Start	End	E-Value	Type
low complexity region	13	34	N/A	INTRINSIC
low complexity region	35	51	N/A	INTRINSIC
Pfam:Cast	154	958	3.6e-295	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000185143
AA Change: W190*

SMART Domains

Protein: ENSMUSP00000138989
Gene: ENSMUSG00000030172
AA Change: W190*

Domain	Start	End	E-Value	Type
low complexity region	13	34	N/A	INTRINSIC
low complexity region	35	51	N/A	INTRINSIC
Pfam:Cast	154	224	1.7e-28	PFAM
Pfam:Cast	222	686	8e-145	PFAM

Meta Mutation Damage Score

0.9752

Coding Region Coverage

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

Validation Efficiency

100% (71/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of a family of RIM-binding proteins. RIMs are active zone proteins that regulate neurotransmitter release. This gene has been found fused to the receptor-type tyrosine kinase gene RET by gene rearrangement due to the translocation t(10;12)(q11;p13) in thyroid papillary carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for null mutations in this gene display embryonic lethality. Mice heterozygous for a gene trap null allele exhibit increased sensitivity to ionizing radiation-induced lethality, with males being more affected than females. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaed1	T	C	13: 64,312,278	S84G	probably benign	Het
Acin1	A	T	14: 54,664,602	S578T	possibly damaging	Het
Acot5	A	G	12: 84,075,827	Q395R	probably damaging	Het
Adamts15	T	A	9: 30,922,105	T45S	probably benign	Het
Agbl2	A	G	2: 90,815,433	K837E	probably benign	Het
Atf2	T	C	2: 73,853,885	T19A	possibly damaging	Het
Atp6v0a2	T	C	5: 124,645,031	V238A	probably damaging	Het
Atp9a	A	T	2: 168,674,857	V430E	probably benign	Het
Cachd1	G	A	4: 100,974,815	V725I	probably benign	Het
Ccnb1	G	A	13: 100,781,351	T247M	probably damaging	Het
Cd40	A	T	2: 165,066,511	D169V	probably benign	Het
Cdc25c	G	A	18: 34,747,243	T146I	probably benign	Het
Ceacam3	C	A	7: 17,159,853	Q430K		Het
Cerkl	G	A	2: 79,341,380	T378I	probably benign	Het
Cpn2	G	T	16: 30,260,345	N179K	probably damaging	Het
Duox1	A	G	2: 122,324,388	D418G	probably damaging	Het
Eps8l1	C	A	7: 4,468,867	P11T	possibly damaging	Het
Exosc7	A	T	9: 123,130,919	E195V	probably benign	Het
F2rl2	A	G	13: 95,700,918	N157S	probably damaging	Het
Fgd2	T	C	17: 29,367,395	L270P	possibly damaging	Het
Fitm2	A	T	2: 163,470,099	W65R	probably damaging	Het
Gabbr1	T	G	17: 37,056,969	I437S	possibly damaging	Het
Galntl6	A	T	8: 57,857,537	S377T	probably benign	Het
Gm17727	T	A	9: 35,777,110	S60C	probably damaging	Het
Gm21936	G	A	12: 87,795,552	R14K	unknown	Het
Gm281	A	T	14: 13,896,968		probably null	Het
Gm340	A	G	19: 41,584,585	D593G	probably benign	Het
Gml2	T	A	15: 74,821,368	C73*	probably null	Het
Htr6	G	T	4: 139,061,831	F304L	probably damaging	Het
Hydin	G	A	8: 110,589,460	G4328D	probably damaging	Het
Kcnj14	T	C	7: 45,817,893	D343G	probably damaging	Het
Klhdc1	T	A	12: 69,283,168	I357N	probably benign	Het
Man2a1	A	G	17: 64,666,751	T341A	probably damaging	Het
Mrm1	A	C	11: 84,818,643	V196G	probably damaging	Het
Mybbp1a	A	G	11: 72,442,901		probably null	Het
Myo19	G	A	11: 84,909,267	C826Y	probably benign	Het
Nbea	A	G	3: 56,002,797	W1326R	probably damaging	Het
Notch1	A	G	2: 26,459,533	*2532Q	probably null	Het
Npas2	A	G	1: 39,326,147	Y287C	probably damaging	Het
Olfr1016	T	A	2: 85,799,949	D107V	probably benign	Het
Olfr401	G	A	11: 74,121,837	D183N	probably damaging	Het
Pcdhga7	C	A	18: 37,716,024	D361E	possibly damaging	Het
Pde10a	T	A	17: 8,961,920	Y447N	possibly damaging	Het
Piwil2	T	A	14: 70,395,441	I561F	probably benign	Het
Pml	C	A	9: 58,234,685	R288L	probably benign	Het
Ppp4r4	A	G	12: 103,598,148	T591A	probably benign	Het
Ptprb	A	G	10: 116,315,251	T273A	probably benign	Het
Ptpro	T	A	6: 137,416,863	L843*	probably null	Het
Qrfpr	T	C	3: 36,189,602	I117V	probably benign	Het
Qrich2	T	C	11: 116,455,765	D1411G	probably benign	Het
Rad51ap2	T	C	12: 11,456,655	S193P	probably benign	Het
Raver1	T	C	9: 21,081,314	E273G	probably benign	Het
Rubcn	C	A	16: 32,868,274		probably benign	Het
S1pr4	C	T	10: 81,498,492	V383I	possibly damaging	Het
Scn7a	T	C	2: 66,676,150	D1465G	probably damaging	Het
Smarca4	T	A	9: 21,647,359	D607E	possibly damaging	Het
Srbd1	T	A	17: 85,985,454	I896L	possibly damaging	Het
Sulf2	G	T	2: 166,079,536	N722K	possibly damaging	Het
Surf1	A	G	2: 26,916,268	Y22H	probably benign	Het
Syngr2	A	G	11: 117,813,156	T150A	probably benign	Het
Szt2	G	T	4: 118,366,219	H3056N	unknown	Het
Tmf1	A	T	6: 97,161,411	S849T	probably benign	Het
Tns1	T	A	1: 74,091,331		probably benign	Het
Trio	G	T	15: 27,774,086	P1764Q	probably damaging	Het
Trpc3	A	T	3: 36,640,672	V711D	probably damaging	Het
Ttll3	G	T	6: 113,409,337	K710N	probably damaging	Het
Unc13c	A	G	9: 73,481,109	S2132P	possibly damaging	Het
Utp20	G	A	10: 88,801,136	P738S	possibly damaging	Het
Vmn2r76	C	T	7: 86,228,684	V502I	probably benign	Het
Vsig1	C	T	X: 140,933,126	H232Y	probably benign	Het
Wdr64	T	G	1: 175,763,945	F390V	probably damaging	Het
Ybx3	T	G	6: 131,367,863	T341P	possibly damaging	Het
Zdhhc11	C	A	13: 73,973,747	Q126K	possibly damaging	Het
Zfp777	G	A	6: 48,025,138	P673S	probably damaging	Het

Other mutations in Erc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01302:Erc1	APN	6	119722303	missense	probably damaging	0.96
IGL01345:Erc1	APN	6	119761263	nonsense	probably null
IGL01370:Erc1	APN	6	119824465	missense	probably damaging	1.00
IGL01443:Erc1	APN	6	119824471	missense	probably damaging	1.00
IGL01550:Erc1	APN	6	119783394	missense	probably damaging	0.96
IGL01798:Erc1	APN	6	119620337	missense	possibly damaging	0.86
IGL02032:Erc1	APN	6	119630609	missense	probably damaging	1.00
IGL02239:Erc1	APN	6	119773891	missense	probably damaging	0.96
IGL02341:Erc1	APN	6	119594973	missense	possibly damaging	0.92
couch	UTSW	6	119743429	missense	possibly damaging	0.81
divan	UTSW	6	119753288	missense	probably benign	0.27
PIT4498001:Erc1	UTSW	6	119779491	missense	possibly damaging	0.92
R0149:Erc1	UTSW	6	119824830	missense	probably damaging	1.00
R0277:Erc1	UTSW	6	119620328	missense	probably damaging	1.00
R0323:Erc1	UTSW	6	119620328	missense	probably damaging	1.00
R1053:Erc1	UTSW	6	119796926	missense	probably damaging	1.00
R1252:Erc1	UTSW	6	119743392	missense	possibly damaging	0.84
R1355:Erc1	UTSW	6	119743420	nonsense	probably null
R1470:Erc1	UTSW	6	119694602	missense	probably damaging	1.00
R1470:Erc1	UTSW	6	119694602	missense	probably damaging	1.00
R1680:Erc1	UTSW	6	119575761	missense	probably damaging	1.00
R1833:Erc1	UTSW	6	119743429	missense	possibly damaging	0.81
R1954:Erc1	UTSW	6	119797305	missense	probably damaging	1.00
R2037:Erc1	UTSW	6	119722255	missense	possibly damaging	0.94
R2365:Erc1	UTSW	6	119575695	missense	probably damaging	1.00
R3751:Erc1	UTSW	6	119824960	missense	probably damaging	0.99
R4473:Erc1	UTSW	6	119848456	splice site	probably null
R4778:Erc1	UTSW	6	119797337	splice site	probably null
R4897:Erc1	UTSW	6	119777986	critical splice donor site	probably null
R5260:Erc1	UTSW	6	119761159	missense	probably damaging	1.00
R5382:Erc1	UTSW	6	119761272	missense	probably benign	0.02
R5405:Erc1	UTSW	6	119824944	missense	probably damaging	1.00
R5801:Erc1	UTSW	6	119773822	missense	probably damaging	0.99
R6341:Erc1	UTSW	6	119777998	missense	possibly damaging	0.94
R6588:Erc1	UTSW	6	119575726	missense	possibly damaging	0.92
R7441:Erc1	UTSW	6	119824951	missense	possibly damaging	0.86
R7486:Erc1	UTSW	6	119594946	nonsense	probably null
R7532:Erc1	UTSW	6	119779631	missense	probably benign	0.02
R7575:Erc1	UTSW	6	119824760	missense	possibly damaging	0.93
R7576:Erc1	UTSW	6	119824760	missense	possibly damaging	0.93
R7705:Erc1	UTSW	6	119824603	missense	probably benign	0.33
R7740:Erc1	UTSW	6	119761188	missense	probably benign	0.02
R7789:Erc1	UTSW	6	119773709	nonsense	probably null
R7805:Erc1	UTSW	6	119713771	missense	possibly damaging	0.85
R8039:Erc1	UTSW	6	119773665	nonsense	probably null
R8229:Erc1	UTSW	6	119753288	missense	probably benign	0.27
R8363:Erc1	UTSW	6	119753299	missense	probably benign	0.00
R8794:Erc1	UTSW	6	119630655	missense	probably damaging	0.98
R9067:Erc1	UTSW	6	119797075	missense	possibly damaging	0.84
R9172:Erc1	UTSW	6	119824881	missense	possibly damaging	0.72
R9617:Erc1	UTSW	6	119796941	missense	probably benign	0.14
R9744:Erc1	UTSW	6	119743399	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TGCACCATGTACAGGAACAAG -3'
(R):5'- TGGAGAACATCACCTCCCTC -3'

Sequencing Primer
(F):5'- TGTACAGGAACAAGTCTTAAAAAGGC -3'
(R):5'- CCTGTTAGTATGGCATCTACTGTAC -3'

Posted On

2019-12-20