Mutagenetix > Incidental Mutation

Incidental Mutation 'R7486:Erc1'

580159

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

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7486 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

119570796-119848167 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 119594946 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 1022 (Q1022*)

Ref Sequence

ENSEMBL: ENSMUSP00000032279 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000032279
AA Change: Q1022*

SMART Domains

Protein: ENSMUSP00000032279
Gene: ENSMUSG00000030172
AA Change: Q1022*

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: ENSMUST00000183703
AA Change: Q1022*

SMART Domains

Protein: ENSMUSP00000139031
Gene: ENSMUSG00000030172
AA Change: Q1022*

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 benign
Transcript: ENSMUST00000183880

SMART Domains

Protein: ENSMUSP00000138823
Gene: ENSMUSG00000030172

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: Q990*

SMART Domains

Protein: ENSMUSP00000139118
Gene: ENSMUSG00000030172
AA Change: Q990*

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 benign
Transcript: ENSMUST00000184320

Predicted Effect

probably benign
Transcript: ENSMUST00000184838

SMART Domains

Protein: ENSMUSP00000139030
Gene: ENSMUSG00000030172

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: Q1018*

SMART Domains

Protein: ENSMUSP00000139256
Gene: ENSMUSG00000030172
AA Change: Q1018*

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 benign
Transcript: ENSMUST00000185139

SMART Domains

Protein: ENSMUSP00000139152
Gene: ENSMUSG00000030172

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 benign
Transcript: ENSMUST00000185143

SMART Domains

Protein: ENSMUSP00000138989
Gene: ENSMUSG00000030172

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam21	T	C	12: 81,558,883	I702V	probably benign	Het
Adgre5	T	C	8: 83,723,886	E815G	probably damaging	Het
Adgrl2	A	G	3: 148,817,694	V298A		Het
Akp3	A	G	1: 87,125,479	D91G	probably damaging	Het
Ano8	A	G	8: 71,484,998		probably null	Het
Blvra	T	C	2: 127,087,323	S136P	unknown	Het
Cacul1	T	A	19: 60,580,430	M97L	probably benign	Het
Ccdc80	T	C	16: 45,126,179	V827A	probably damaging	Het
Cep68	T	C	11: 20,242,166	E11G	probably benign	Het
Cfap221	A	T	1: 119,923,592	V813E	possibly damaging	Het
Chd6	A	G	2: 160,950,003	V2478A	probably damaging	Het
Chmp6	T	C	11: 119,916,957	F148S	probably benign	Het
Clca3a2	T	A	3: 144,797,601	I863F	probably damaging	Het
Cnnm2	T	C	19: 46,762,074	V101A	possibly damaging	Het
Cpne8	A	T	15: 90,515,906		probably null	Het
Dmbt1	T	G	7: 131,066,462	C483G	unknown	Het
Dnah7b	G	A	1: 46,290,734	G3246D	probably damaging	Het
Dnajc3	C	A	14: 118,972,404	T297K	probably benign	Het
Dpm3	A	G	3: 89,266,727		probably null	Het
Eef2k	A	G	7: 120,858,570	N51D	probably benign	Het
Ercc5	T	A	1: 44,148,064	M1K	probably null	Het
Fam114a2	C	T	11: 57,513,689	G83D	probably damaging	Het
Fat4	C	A	3: 38,957,427	Y2225*	probably null	Het
Frk	G	A	10: 34,547,296	W123*	probably null	Het
Gm11568	T	A	11: 99,858,466	C166S	unknown	Het
Gm12666	A	T	4: 92,191,269	V105E	probably benign	Het
Gpr153	A	G	4: 152,282,401	D337G	probably benign	Het
Gpt2	T	C	8: 85,525,606	F517L	probably damaging	Het
Gsg1	C	T	6: 135,237,429	E361K	probably benign	Het
Hsfy2	G	A	1: 56,636,971	R136*	probably null	Het
Insm1	G	A	2: 146,223,818	R518H	probably damaging	Het
Kank1	G	A	19: 25,410,829	C622Y	probably damaging	Het
Katnb1	T	A	8: 95,098,729	S640R	probably damaging	Het
Kcnmb4	A	G	10: 116,418,275	V199A	probably benign	Het
Lamb1	T	G	12: 31,287,442	S391A	probably benign	Het
Macf1	T	G	4: 123,409,581	D376A	probably benign	Het
Map7d1	C	A	4: 126,234,386	R614L	unknown	Het
Mcm8	C	T	2: 132,839,520	R667W	probably damaging	Het
Med13l	C	T	5: 118,728,474	T531I	probably benign	Het
Mstn	G	T	1: 53,063,969	A155S	probably damaging	Het
Mycbp2	C	T	14: 103,197,254	R2251K	probably damaging	Het
Myo19	T	C	11: 84,905,637	S692P	probably benign	Het
Nipbl	A	T	15: 8,295,636	N2514K	probably benign	Het
Nkd2	T	A	13: 73,847,442		probably benign	Het
Nox3	T	A	17: 3,669,944	Y322F	probably damaging	Het
Nt5dc1	A	G	10: 34,399,809	Y135H	probably benign	Het
Olfr389	T	C	11: 73,777,021	Y102C	probably damaging	Het
Olfr533	C	T	7: 140,466,034		probably benign	Het
Olfr979	T	A	9: 40,000,885	Y114F	probably benign	Het
Oog3	T	A	4: 144,158,172	H398L	probably benign	Het
Otogl	A	G	10: 107,821,988	L1027P	probably damaging	Het
Pcdh20	T	A	14: 88,468,614	I417F	possibly damaging	Het
Pcdha12	T	A	18: 37,021,557	V443E	probably damaging	Het
Pcdhga2	A	G	18: 37,670,408	D435G	probably benign	Het
Pcnt	G	T	10: 76,418,436	T853K	probably benign	Het
Pcnt	T	C	10: 76,418,437	T853A	probably benign	Het
Pgghg	T	A	7: 140,942,480	S57R	probably benign	Het
Ppm1m	T	C	9: 106,196,611	D301G	probably damaging	Het
Ppp6r1	A	G	7: 4,639,900	V519A	probably benign	Het
Prss41	ACAGCAGCAGCAGCAGCAGCA	ACAGCAGCAGCAGCAGCA	17: 23,844,098		probably benign	Het
Rasa3	C	T	8: 13,590,201		probably null	Het
Robo4	T	C	9: 37,405,574	V395A	probably damaging	Het
Scrib	A	G	15: 76,057,650	S1123P	probably damaging	Het
Setd1b	A	G	5: 123,163,592	K45E	probably benign	Het
Slc14a1	T	C	18: 78,111,524	S216G	probably benign	Het
Slc25a45	A	G	19: 5,884,969	Y282C	probably damaging	Het
Slc6a5	T	C	7: 49,917,330	S255P	possibly damaging	Het
Smc2	A	T	4: 52,462,861	Q617L	possibly damaging	Het
Spo11	G	A	2: 172,984,077	D103N	probably benign	Het
Tcf20	A	T	15: 82,853,734	M1172K	possibly damaging	Het
Tesc	T	A	5: 118,046,317	S21T	probably benign	Het
Tie1	C	A	4: 118,479,904		probably null	Het
Trim24	T	G	6: 37,957,839		probably null	Het
Trpm7	A	G	2: 126,831,195		probably null	Het
Unc13d	T	C	11: 116,074,433	D193G	possibly damaging	Het
Upk3a	A	T	15: 85,018,024		probably null	Het
Vmn2r25	T	C	6: 123,823,142	N747S	probably damaging	Het
Wipf1	GCCTCCTCCTCCTCCTCCTCCTCC	GCCTCCTCCTCCTCCTCCTCC	2: 73,440,074		probably benign	Het
Zbtb2	G	A	10: 4,369,025	Q334*	probably null	Het
Zfp653	T	C	9: 22,056,528	N494D	probably damaging	Het
Zfp865	A	G	7: 5,031,260	D748G	possibly damaging	Het
Zzef1	T	C	11: 72,864,786	S1014P	possibly 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
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
R7833:Erc1	UTSW	6	119824486	nonsense	probably null
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

Predicted Primers

PCR Primer
(F):5'- TCTTGAACAAGACCTACCTGC -3'
(R):5'- AGTGCAGAGTTCTCCATCTGG -3'

Sequencing Primer
(F):5'- AGACCTACCTGCTCCTGAG -3'
(R):5'- ATTGATGGACTCAGCGATAGTC -3'

Posted On

2019-10-07