Mutagenetix > Incidental Mutation

Incidental Mutation 'R5260:Erc1'

401370

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

042829-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5260 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119570796-119848167 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 119761159 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 574 (N574K)

Ref Sequence

ENSEMBL: ENSMUSP00000139256 (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

possibly damaging
Transcript: ENSMUST00000032279
AA Change: N574K

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000032279
Gene: ENSMUSG00000030172
AA Change: N574K

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

possibly damaging
Transcript: ENSMUST00000183703
AA Change: N574K

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000139031
Gene: ENSMUSG00000030172
AA Change: N574K

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 damaging
Transcript: ENSMUST00000183880
AA Change: N546K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000138823
Gene: ENSMUSG00000030172
AA Change: N546K

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

possibly damaging
Transcript: ENSMUST00000183911
AA Change: N546K

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000139118
Gene: ENSMUSG00000030172
AA Change: N546K

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

possibly damaging
Transcript: ENSMUST00000184838
AA Change: N574K

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000139030
Gene: ENSMUSG00000030172
AA Change: N574K

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 damaging
Transcript: ENSMUST00000184864
AA Change: N574K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000139256
Gene: ENSMUSG00000030172
AA Change: N574K

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 damaging
Transcript: ENSMUST00000185139
AA Change: N546K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000139152
Gene: ENSMUSG00000030172
AA Change: N546K

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 damaging
Transcript: ENSMUST00000185143
AA Change: N274K

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000138989
Gene: ENSMUSG00000030172
AA Change: N274K

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

0.1573

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.0%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310007B03Rik	A	T	1: 93,159,978	V51E	probably damaging	Het
Abraxas2	A	T	7: 132,859,274	I14F	probably damaging	Het
Acin1	T	C	14: 54,642,822		probably benign	Het
Adamts9	C	A	6: 92,807,137	V1579L	probably benign	Het
Adra2a	T	A	19: 54,046,608	C132S	probably damaging	Het
Aif1	T	A	17: 35,171,941		probably null	Het
Atf5	A	T	7: 44,815,086	Y27*	probably null	Het
Atm	A	G	9: 53,506,611	S799P	probably damaging	Het
Bmp2k	T	G	5: 97,087,351		probably benign	Het
Chaf1a	C	T	17: 56,065,000	H723Y	probably damaging	Het
Clint1	T	C	11: 45,907,942	W493R	probably damaging	Het
Cyb561a3	T	A	19: 10,587,866	V198D	possibly damaging	Het
Cyp2j8	T	C	4: 96,501,064	E174G	possibly damaging	Het
Cyp4v3	C	T	8: 45,306,980	G512S	probably damaging	Het
Dnah8	T	A	17: 30,700,419	V1122D	probably benign	Het
Doc2b	C	A	11: 75,786,163	G128V	probably damaging	Het
Dysf	T	C	6: 84,150,034	V1378A	probably damaging	Het
Efcab5	A	T	11: 77,137,651	S421T	possibly damaging	Het
Efcab6	T	G	15: 83,945,123	D672A	probably benign	Het
Eif2ak3	C	A	6: 70,893,129	H933Q	probably damaging	Het
Eri2	A	T	7: 119,787,846		probably benign	Het
Faxc	A	G	4: 21,948,744	Y152C	probably damaging	Het
Fbxl7	T	A	15: 26,543,499	Y354F	probably damaging	Het
Fras1	T	A	5: 96,735,187	I2526N	possibly damaging	Het
Gm1966	A	G	7: 106,599,204		noncoding transcript	Het
Gm5424	A	T	10: 62,071,595		noncoding transcript	Het
Gm6728	T	C	6: 136,486,703		noncoding transcript	Het
Golgb1	A	T	16: 36,913,141	S917C	probably benign	Het
Gtpbp3	T	C	8: 71,489,418		probably benign	Het
Gusb	A	T	5: 129,999,988	Y220*	probably null	Het
Hmcn1	A	G	1: 150,595,861	V4914A	possibly damaging	Het
Iars2	C	A	1: 185,323,734	C211F	probably damaging	Het
Kif5b	A	G	18: 6,211,058	L802P	probably damaging	Het
Kif5c	A	G	2: 49,735,590	E624G	probably damaging	Het
Kmt2d	G	T	15: 98,842,860		probably benign	Het
Krt82	C	A	15: 101,548,388	G186C	possibly damaging	Het
Lca5	G	A	9: 83,423,223	R177C	probably damaging	Het
Mier1	T	C	4: 103,162,710	S318P	probably benign	Het
Obscn	A	T	11: 59,003,369	I1207N	probably damaging	Het
Olfr1161	A	C	2: 88,025,474	I251L	probably benign	Het
Olfr1261	A	G	2: 89,994,182	D263G	probably damaging	Het
Olfr1302	A	G	2: 111,781,181	Y287C	probably damaging	Het
Olfr607	A	G	7: 103,460,615	F198L	probably benign	Het
Oog4	C	T	4: 143,437,854	G369D	probably benign	Het
Plec	T	C	15: 76,176,624	T3060A	probably damaging	Het
Plekhh2	C	T	17: 84,577,165	T769I	probably damaging	Het
Prkaa1	A	T	15: 5,160,668	S65C	probably damaging	Het
Psma3	T	C	12: 70,984,642		probably benign	Het
Ptpn18	T	A	1: 34,463,510		probably benign	Het
Ptprv	T	C	1: 135,112,260		noncoding transcript	Het
Rac1	C	A	5: 143,508,131	V104L	probably benign	Het
Serpinb7	A	T	1: 107,434,749	N61I	possibly damaging	Het
Sirt7	A	C	11: 120,620,521		probably benign	Het
Srl	G	A	16: 4,482,895	R333*	probably null	Het
Srprb	A	T	9: 103,201,920	L756Q	probably damaging	Het
Tchhl1	T	C	3: 93,470,795	S269P	probably damaging	Het
Tdo2	C	T	3: 81,975,323		probably null	Het
Teddm1a	T	C	1: 153,891,900	Y37H	probably benign	Het
Tenm3	T	C	8: 48,236,855	Y1899C	probably damaging	Het
Tep1	T	C	14: 50,838,631	T1681A	probably benign	Het
Timm44	G	T	8: 4,275,919		probably null	Het
Trp73	A	G	4: 154,062,602	V322A	possibly damaging	Het
Tsr1	A	C	11: 74,905,955	E611A	probably damaging	Het
Unc80	A	G	1: 66,646,587	N2290S	possibly damaging	Het
Ush2a	T	C	1: 188,947,079	V4828A	possibly damaging	Het
Vps51	T	G	19: 6,071,033	E283D	probably benign	Het
Wnt9b	C	A	11: 103,732,049	S176I	possibly damaging	Het
Zfp329	A	G	7: 12,806,526		probably benign	Het
Zfp352	T	A	4: 90,224,460	V279D	probably damaging	Het
Zfp932	C	T	5: 110,009,635	Q400*	probably null	Het
Zxdc	T	A	6: 90,382,093	L569Q	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
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
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'- TCAGGTGGCCAAATAGTCTGTC -3'
(R):5'- TCCTGTGCACTGCCTATGTG -3'

Sequencing Primer
(F):5'- GGTGGCCAAATAGTCTGTCAATTTC -3'
(R):5'- GCACTGCCTATGTGCTTTTTAG -3'

Posted On

2016-07-06