Mutagenetix > Incidental Mutation

Incidental Mutation 'R6341:Erc1'

514383

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 #

R6341 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

119570796-119848167 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119777998 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 464 (L464P)

Ref Sequence

ENSEMBL: ENSMUSP00000139256 (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

unknown
Transcript: ENSMUST00000032279
AA Change: L464P

SMART Domains

Protein: ENSMUSP00000032279
Gene: ENSMUSG00000030172
AA Change: L464P

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 benign
Transcript: ENSMUST00000079582

SMART Domains

Protein: ENSMUSP00000078534
Gene: ENSMUSG00000030172

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

Predicted Effect

unknown
Transcript: ENSMUST00000183703
AA Change: L464P

SMART Domains

Protein: ENSMUSP00000139031
Gene: ENSMUSG00000030172
AA Change: L464P

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

noncoding transcript
Transcript: ENSMUST00000183872

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

unknown
Transcript: ENSMUST00000184838
AA Change: L464P

SMART Domains

Protein: ENSMUSP00000139030
Gene: ENSMUSG00000030172
AA Change: L464P

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

possibly damaging
Transcript: ENSMUST00000184864
AA Change: L464P

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000139256
Gene: ENSMUSG00000030172
AA Change: L464P

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: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.6%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap2	T	C	16: 31,105,546	D658G	possibly damaging	Het
Amz2	A	G	11: 109,428,827	H13R	probably benign	Het
Ankrd27	G	T	7: 35,627,403		probably null	Het
Atp8a1	T	C	5: 67,682,927	T704A	possibly damaging	Het
Cabin1	A	T	10: 75,658,739	M1602K	probably damaging	Het
Ccdc74a	T	C	16: 17,648,114	S105P	probably damaging	Het
Cdh26	T	A	2: 178,471,573		probably null	Het
Cxcl10	T	C	5: 92,348,213	I22V	probably benign	Het
Cyp2c68	A	C	19: 39,712,489	V295G	possibly damaging	Het
Ddx10	A	T	9: 53,204,251	D594E	probably benign	Het
Ddx5	T	C	11: 106,785,542		probably null	Het
Ddx58	T	A	4: 40,222,199		probably null	Het
Duox1	T	C	2: 122,337,721	I1109T	probably damaging	Het
Dusp15	T	C	2: 152,946,284		probably null	Het
Ecel1	A	G	1: 87,150,471		probably null	Het
Efcab6	T	G	15: 83,935,938	Q714P	possibly damaging	Het
Fam129c	C	T	8: 71,600,077	P65L	probably damaging	Het
Fam234a	T	A	17: 26,213,693	H494L	probably damaging	Het
Gfpt1	T	C	6: 87,088,145	V694A	probably damaging	Het
Gli2	T	C	1: 118,836,224	D1399G	probably damaging	Het
Gm10110	T	C	14: 89,896,708		noncoding transcript	Het
Hdac3	A	G	18: 37,944,164	L219P	probably damaging	Het
Hlcs	A	G	16: 94,231,163	F52S	probably damaging	Het
Ints7	C	A	1: 191,613,127	T643K	probably damaging	Het
Ireb2	A	G	9: 54,908,780	I878M	probably damaging	Het
Itga3	A	T	11: 95,055,851		probably null	Het
Lrfn5	T	A	12: 61,843,582	Y552*	probably null	Het
Mafb	T	C	2: 160,366,451	T76A	probably damaging	Het
Man2b1	A	T	8: 85,095,399	S748C	probably damaging	Het
Mmp15	G	T	8: 95,365,463		probably null	Het
Mmp17	A	T	5: 129,601,955	R335W	probably damaging	Het
Muc5ac	A	T	7: 141,801,492	D1005V	probably damaging	Het
Myh3	T	C	11: 67,082,996	F165S	probably benign	Het
Nacc1	T	C	8: 84,674,791	D419G	probably benign	Het
Neb	G	A	2: 52,209,474	S4545L	probably damaging	Het
Npas2	T	C	1: 39,300,687	I106T	probably damaging	Het
Ogfrl1	T	G	1: 23,369,863	K427N	probably benign	Het
Olfr1448	T	C	19: 12,919,479	T277A	probably benign	Het
Pde4dip	T	A	3: 97,694,911	Q2283L	probably benign	Het
Phax	C	T	18: 56,573,101	T21M	possibly damaging	Het
Pitpnm1	A	T	19: 4,102,829	K79*	probably null	Het
Pkd1	T	A	17: 24,580,227	F2807I	probably damaging	Het
Plekha4	C	T	7: 45,541,148	R427C	probably damaging	Het
Ptprj	A	T	2: 90,458,349	F757L	probably benign	Het
Rad1	A	G	15: 10,492,821	D208G	probably damaging	Het
Rangrf	T	A	11: 68,972,712	N156I	probably benign	Het
Rasl11b	T	C	5: 74,198,376	S181P	probably damaging	Het
Rlf	G	A	4: 121,149,360	Q808*	probably null	Het
Rogdi	G	T	16: 5,013,377		probably null	Het
Sec24a	A	T	11: 51,717,776	V573D	probably damaging	Het
Sorbs2	A	G	8: 45,770,578	T200A	probably damaging	Het
Srgap2	C	T	1: 131,291,629	R259H	probably benign	Het
Ssc5d	T	A	7: 4,936,665	V700E	probably benign	Het
Stt3a	A	T	9: 36,751,296	H222Q	probably damaging	Het
Tcaf3	A	T	6: 42,597,259	D6E	possibly damaging	Het
Tdrd12	C	T	7: 35,490,048	R421H	probably damaging	Het
Top3b	T	C	16: 16,879,071	M62T	probably damaging	Het
Trhr	T	G	15: 44,229,298	Y310*	probably null	Het
Urb2	G	T	8: 124,031,125	E1190D	probably damaging	Het
Usp34	A	G	11: 23,381,353	T1085A	probably damaging	Het
Vmn1r179	T	A	7: 23,929,066	H227Q	possibly damaging	Het
Vmn1r31	A	T	6: 58,472,010	M290K	probably benign	Het
Wdr75	T	C	1: 45,802,131		probably null	Het
Wnk1	A	T	6: 119,948,585	V1306D	probably damaging	Het
Xkr4	T	C	1: 3,670,778	T191A	probably benign	Het
Zc3h15	A	G	2: 83,661,223	E265G	probably benign	Het
Zcchc9	A	G	13: 91,800,697	F41S	possibly damaging	Het
Zfp251	T	C	15: 76,854,137	H247R	probably damaging	Het
Zfp433	A	G	10: 81,720,123	E152G	probably damaging	Het
Zfp770	A	T	2: 114,196,759	S276R	probably benign	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
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
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'- GTCAAACTGGTGAACAAATGTCAG -3'
(R):5'- ATGCCTTTGAAAATTGAGTTAGGGG -3'

Sequencing Primer
(F):5'- CTGGTGAACAAATGTCAGTTAAAAG -3'
(R):5'- AATTGAGTTAGGGGAACAGCTTTG -3'

Posted On

2018-04-27