Mutagenetix > Incidental Mutation

Incidental Mutation 'R7789:Erc1'

599731

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 #

R7789 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119570796-119848167 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 119773709 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 353 (R353*)

Ref Sequence

ENSEMBL: ENSMUSP00000078534 (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 benign
Transcript: ENSMUST00000032279

SMART Domains

Protein: ENSMUSP00000032279
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	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: R353*

SMART Domains

Protein: ENSMUSP00000078534
Gene: ENSMUSG00000030172
AA Change: R353*

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

Predicted Effect

probably benign
Transcript: ENSMUST00000183703

SMART Domains

Protein: ENSMUSP00000139031
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	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 benign
Transcript: ENSMUST00000183911

SMART Domains

Protein: ENSMUSP00000139118
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	954	4.2e-293	PFAM
Pfam:RBD-FIP	1040	1080	8.5e-14	PFAM

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 benign
Transcript: ENSMUST00000184864

SMART Domains

Protein: ENSMUSP00000139256
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	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: 99.6%
20x: 98.5%

Validation Efficiency

99% (77/78)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	G	A	16: 4,864,311	E163K	probably benign	Het
Adam34	T	A	8: 43,652,451	R52S	probably benign	Het
Adcy8	A	T	15: 64,871,774	C328*	probably null	Het
Ankrd26	G	T	6: 118,527,798	H717N	probably damaging	Het
Ankrd26	G	T	6: 118,527,799	S716R	possibly damaging	Het
Ankrd40	C	A	11: 94,334,709	P189T	probably damaging	Het
Anln	A	G	9: 22,352,037	S113P		Het
Arid5b	C	T	10: 68,098,587	G495E	probably benign	Het
Asxl1	C	T	2: 153,400,023	T832I	probably benign	Het
Bicd2	C	T	13: 49,379,659	R574C	probably damaging	Het
Boll	T	C	1: 55,360,667		probably null	Het
Casr	A	G	16: 36,495,291	F806L	probably damaging	Het
Casz1	C	A	4: 148,929,406	N142K	probably benign	Het
Cbl	C	T	9: 44,163,467	D433N	probably damaging	Het
Ceacam14	T	A	7: 17,814,171	V62D	probably damaging	Het
Chst10	T	C	1: 38,884,451	N18S	probably benign	Het
Cyp2j6	C	T	4: 96,545,716	R119H	probably benign	Het
Cyp4a14	C	G	4: 115,494,910	V102L	probably benign	Het
Dnajb3	A	T	1: 88,205,677	M1K	probably null	Het
Dnajc6	A	T	4: 101,618,532	K534M	possibly damaging	Het
Dnase2a	T	C	8: 84,908,876		probably null	Het
Dock10	A	G	1: 80,559,213	I985T	possibly damaging	Het
Emsy	G	T	7: 98,621,489	P436Q	probably damaging	Het
Enpp1	A	T	10: 24,654,083		probably null	Het
Fam196b	T	A	11: 34,402,537	M193K	probably benign	Het
Fbn2	T	A	18: 58,039,313	D2140V	probably benign	Het
Fgfr1	T	A	8: 25,562,313	Y218*	probably null	Het
Fhod1	C	T	8: 105,330,108	R1045H	probably damaging	Het
Focad	G	T	4: 88,229,406	L427F	unknown	Het
Gbf1	T	A	19: 46,254,002	L144M	probably damaging	Het
Glmn	T	G	5: 107,549,075	N592T	probably benign	Het
Golgb1	C	G	16: 36,875,399	P87A	unknown	Het
H2bfm	G	A	X: 136,927,722	R120K	unknown	Het
Itga9	T	G	9: 118,658,496	F216V	possibly damaging	Het
Klhl18	T	C	9: 110,439,008	D149G	unknown	Het
Lcat	C	T	8: 105,942,225	V114M	probably benign	Het
Lrrc8c	C	A	5: 105,607,200	N280K	probably damaging	Het
Mettl8	T	C	2: 70,966,462	Y283C	probably damaging	Het
Mgat4a	A	T	1: 37,490,279	I173K	probably damaging	Het
Mmp1a	T	C	9: 7,475,265	V345A	possibly damaging	Het
Mok	T	A	12: 110,811,827	H215L	probably damaging	Het
Mphosph9	C	G	5: 124,315,587	E221Q	probably damaging	Het
Muc4	C	G	16: 32,753,930	Q1269E	probably benign	Het
Mug1	C	A	6: 121,861,220	H470N	possibly damaging	Het
Myom1	A	G	17: 71,117,436	T1525A	probably benign	Het
Nap1l1	C	T	10: 111,490,456	S143L	probably benign	Het
Olfr366	C	T	2: 37,219,660	T57I	probably benign	Het
Olfr531	A	T	7: 140,400,697	Y116*	probably null	Het
Olfr646	T	A	7: 104,106,988	S236R	probably damaging	Het
Olfr847	G	T	9: 19,375,065	T272K	probably benign	Het
Plbd2	T	C	5: 120,485,754	S568G	probably damaging	Het
Plxna4	T	A	6: 32,206,233		probably null	Het
Plxnc1	T	A	10: 94,794,477	E1520V	probably damaging	Het
Ppil3	G	A	1: 58,434,379	T104I	possibly damaging	Het
Ptprm	A	T	17: 67,095,539	V118E	probably damaging	Het
Rimbp2	T	C	5: 128,774,335	D849G	probably damaging	Het
Rnf213	T	C	11: 119,470,219		probably null	Het
Sema3f	T	A	9: 107,705,432	K37N	probably benign	Het
Sh3glb1	G	T	3: 144,692,131		probably null	Het
Sh3rf3	A	G	10: 59,086,815	D571G	probably benign	Het
Sipa1l3	T	C	7: 29,377,725	Y874C	probably damaging	Het
Smchd1	G	A	17: 71,475,301		probably benign	Het
Snrnp70	A	T	7: 45,376,621	Y441*	probably null	Het
Ssrp1	C	T	2: 85,041,181	R316W	probably damaging	Het
Syt10	A	T	15: 89,826,898	V144E	probably damaging	Het
Tdrd12	A	G	7: 35,488,692	L562P		Het
Trim68	T	C	7: 102,684,469	D2G	possibly damaging	Het
Trub2	T	A	2: 29,777,908	H240L	probably damaging	Het
Tssc4	A	G	7: 143,069,778		probably null	Het
Usp7	T	A	16: 8,698,811	Q539L	probably benign	Het
Vmn2r17	T	A	5: 109,452,965	C710S	possibly damaging	Het
Vmn2r99	G	T	17: 19,393,817	V600F	possibly damaging	Het
Vps13d	C	T	4: 145,100,065	V2879M		Het
Vrtn	T	A	12: 84,650,306	M610K	probably benign	Het
Xpo4	T	C	14: 57,613,349	E366G	probably benign	Het
Zyg11a	G	A	4: 108,183,648	P703S	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
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
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'- CCATGGATAAAAGTTACTGCTTCC -3'
(R):5'- TGTTTTCCAGATTGGCCAGG -3'

Sequencing Primer
(F):5'- CTGCTTCCAAATCTAAATGAATCAGG -3'
(R):5'- TTTCCAGATTGGCCAGGTGAAAC -3'

Posted On

2019-11-26