Mutagenetix > Incidental Mutation

Incidental Mutation 'R7449:Eva1c'

577600

Institutional Source

Beutler Lab

Gene Symbol

Eva1c

Ensembl Gene

ENSMUSG00000039903

Gene Name

eva-1 homolog C (C. elegans)

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R7449 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

90826719-90905109 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 90876193 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000155994 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037539] [ENSMUST00000037539] [ENSMUST00000037539] [ENSMUST00000099543] [ENSMUST00000099543] [ENSMUST00000099543] [ENSMUST00000099548] [ENSMUST00000099548] [ENSMUST00000099548] [ENSMUST00000130868] [ENSMUST00000130868] [ENSMUST00000130868] [ENSMUST00000152223] [ENSMUST00000152223] [ENSMUST00000152223] [ENSMUST00000154180] [ENSMUST00000154180] [ENSMUST00000154180] [ENSMUST00000231280] [ENSMUST00000231280] [ENSMUST00000231280] [ENSMUST00000231964] [ENSMUST00000231964] [ENSMUST00000231964]

AlphaFold

P58659

Predicted Effect

probably null
Transcript: ENSMUST00000037539

SMART Domains

Protein: ENSMUSP00000036695
Gene: ENSMUSG00000039903

Domain	Start	End	E-Value	Type
low complexity region	4	13	N/A	INTRINSIC
Pfam:Gal_Lectin	75	158	1.8e-22	PFAM
Pfam:Gal_Lectin	176	259	2e-21	PFAM
Pfam:FAM176	300	440	3e-59	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000037539

SMART Domains

Protein: ENSMUSP00000036695
Gene: ENSMUSG00000039903

Domain	Start	End	E-Value	Type
low complexity region	4	13	N/A	INTRINSIC
Pfam:Gal_Lectin	75	158	1.8e-22	PFAM
Pfam:Gal_Lectin	176	259	2e-21	PFAM
Pfam:FAM176	300	440	3e-59	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000037539

SMART Domains

Protein: ENSMUSP00000036695
Gene: ENSMUSG00000039903

Domain	Start	End	E-Value	Type
low complexity region	4	13	N/A	INTRINSIC
Pfam:Gal_Lectin	75	158	1.8e-22	PFAM
Pfam:Gal_Lectin	176	259	2e-21	PFAM
Pfam:FAM176	300	440	3e-59	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000099543

SMART Domains

Protein: ENSMUSP00000097141
Gene: ENSMUSG00000039903

Domain	Start	End	E-Value	Type
low complexity region	4	13	N/A	INTRINSIC
Pfam:Gal_Lectin	75	158	4.9e-20	PFAM
internal_repeat_1	163	203	8.79e-5	PROSPERO
Pfam:FAM176	252	392	5.8e-52	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000099543

SMART Domains

Protein: ENSMUSP00000097141
Gene: ENSMUSG00000039903

Domain	Start	End	E-Value	Type
low complexity region	4	13	N/A	INTRINSIC
Pfam:Gal_Lectin	75	158	4.9e-20	PFAM
internal_repeat_1	163	203	8.79e-5	PROSPERO
Pfam:FAM176	252	392	5.8e-52	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000099543

SMART Domains

Protein: ENSMUSP00000097141
Gene: ENSMUSG00000039903

Domain	Start	End	E-Value	Type
low complexity region	4	13	N/A	INTRINSIC
Pfam:Gal_Lectin	75	158	4.9e-20	PFAM
internal_repeat_1	163	203	8.79e-5	PROSPERO
Pfam:FAM176	252	392	5.8e-52	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000099548

SMART Domains

Protein: ENSMUSP00000097145
Gene: ENSMUSG00000039903

Domain	Start	End	E-Value	Type
Pfam:Gal_Lectin	1	63	1.5e-12	PFAM
Pfam:Gal_Lectin	81	164	6.5e-21	PFAM
Pfam:FAM176	205	345	1.1e-51	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000099548

SMART Domains

Protein: ENSMUSP00000097145
Gene: ENSMUSG00000039903

Domain	Start	End	E-Value	Type
Pfam:Gal_Lectin	1	63	1.5e-12	PFAM
Pfam:Gal_Lectin	81	164	6.5e-21	PFAM
Pfam:FAM176	205	345	1.1e-51	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000099548

SMART Domains

Protein: ENSMUSP00000097145
Gene: ENSMUSG00000039903

Domain	Start	End	E-Value	Type
Pfam:Gal_Lectin	1	63	1.5e-12	PFAM
Pfam:Gal_Lectin	81	164	6.5e-21	PFAM
Pfam:FAM176	205	345	1.1e-51	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000130868

SMART Domains

Protein: ENSMUSP00000121430
Gene: ENSMUSG00000039903

Domain	Start	End	E-Value	Type
low complexity region	4	13	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000130868

SMART Domains

Protein: ENSMUSP00000121430
Gene: ENSMUSG00000039903

Domain	Start	End	E-Value	Type
low complexity region	4	13	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000130868

SMART Domains

Protein: ENSMUSP00000121430
Gene: ENSMUSG00000039903

Domain	Start	End	E-Value	Type
low complexity region	4	13	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000152223

SMART Domains

Protein: ENSMUSP00000119510
Gene: ENSMUSG00000039903

Domain	Start	End	E-Value	Type
low complexity region	4	13	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000152223

SMART Domains

Protein: ENSMUSP00000119510
Gene: ENSMUSG00000039903

Domain	Start	End	E-Value	Type
low complexity region	4	13	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000152223

SMART Domains

Protein: ENSMUSP00000119510
Gene: ENSMUSG00000039903

Domain	Start	End	E-Value	Type
low complexity region	4	13	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000154180

SMART Domains

Protein: ENSMUSP00000119830
Gene: ENSMUSG00000039903

Domain	Start	End	E-Value	Type
Pfam:Gal_Lectin	1	63	2.9e-13	PFAM
Pfam:Gal_Lectin	81	145	3.8e-13	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000154180

SMART Domains

Protein: ENSMUSP00000119830
Gene: ENSMUSG00000039903

Domain	Start	End	E-Value	Type
Pfam:Gal_Lectin	1	63	2.9e-13	PFAM
Pfam:Gal_Lectin	81	145	3.8e-13	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000154180

SMART Domains

Protein: ENSMUSP00000119830
Gene: ENSMUSG00000039903

Domain	Start	End	E-Value	Type
Pfam:Gal_Lectin	1	63	2.9e-13	PFAM
Pfam:Gal_Lectin	81	145	3.8e-13	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000231280

Predicted Effect

probably null
Transcript: ENSMUST00000231280

Predicted Effect

probably null
Transcript: ENSMUST00000231280

Predicted Effect

probably null
Transcript: ENSMUST00000231964

Predicted Effect

probably null
Transcript: ENSMUST00000231964

Predicted Effect

probably null
Transcript: ENSMUST00000231964

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232274

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232665

Meta Mutation Damage Score

0.9473

Coding Region Coverage

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

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous mice exhibit an abnormal pupilary reflex in response to dilating drugs. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	A	7: 120,435,908	Y306N	possibly damaging	Het
Adgrv1	A	T	13: 81,499,073	V3116D	probably damaging	Het
Adssl1	A	T	12: 112,634,151	T185S	probably damaging	Het
Ago2	G	A	15: 73,146,499	P30L	probably damaging	Het
Atp5j	C	T	16: 84,831,363	V44M	probably benign	Het
Atp7b	T	A	8: 22,011,849	I833F	probably damaging	Het
Birc6	T	A	17: 74,702,341	N4869K	probably benign	Het
Cacna1c	C	T	6: 118,602,349	D1796N		Het
Ccng2	C	G	5: 93,273,343	S237R	probably benign	Het
Cnga1	A	G	5: 72,605,304	I289T	probably benign	Het
Crybg1	C	A	10: 44,004,519	E224D	probably benign	Het
Dysf	T	C	6: 84,137,380	L1217P	possibly damaging	Het
Ebf2	T	A	14: 67,410,020	N339K	probably damaging	Het
Fam172a	A	G	13: 77,759,442	I41V	probably damaging	Het
Fam184a	T	C	10: 53,698,634	E293G	probably damaging	Het
Folh1	G	A	7: 86,731,748	P506S	probably benign	Het
Ftcd	A	T	10: 76,580,163	K210N	probably benign	Het
Gdf6	T	A	4: 9,844,494	V6D	possibly damaging	Het
Ghitm	C	A	14: 37,131,581	G101C	probably damaging	Het
Gimap5	T	A	6: 48,752,904	V136D	probably damaging	Het
Gm9745	T	A	13: 8,943,304	H51L	probably damaging	Het
Grm4	C	T	17: 27,435,371	G535D	probably damaging	Het
Gse1	T	C	8: 120,229,711	S314P	unknown	Het
Hnrnpdl	A	G	5: 100,037,155	I279T	probably damaging	Het
Itpr1	T	C	6: 108,389,384	S923P	probably damaging	Het
Krt39	C	A	11: 99,518,061	C303F	probably benign	Het
Lrrn1	T	C	6: 107,568,521	S427P	possibly damaging	Het
Lrrn3	T	A	12: 41,453,488	R277W	probably damaging	Het
Ltb4r1	T	C	14: 55,767,918	L226P	probably damaging	Het
Map1b	C	T	13: 99,508,140	R85Q	probably damaging	Het
Mcoln1	T	C	8: 3,507,285	L125P	probably damaging	Het
Nid1	T	G	13: 13,482,051	V589G	probably damaging	Het
Nlrp5	T	G	7: 23,417,526	F225C	probably benign	Het
Notch3	C	T	17: 32,157,966	A322T	probably damaging	Het
Olfr299	A	G	7: 86,465,855	H148R	probably benign	Het
Olfr69	G	T	7: 103,767,819	Q193K	probably benign	Het
Olfr854	T	A	9: 19,566,866	T173S	probably benign	Het
Otogl	A	G	10: 107,803,663	C1363R	probably damaging	Het
Ovol1	T	A	19: 5,553,597	D92V	probably benign	Het
Pigt	T	C	2: 164,502,499	L356P	probably damaging	Het
Plekhg3	A	G	12: 76,566,222	Q434R	probably damaging	Het
Plekhh1	T	C	12: 79,079,552	F1344L	probably benign	Het
Psmd3	T	A	11: 98,695,551	L515Q	probably damaging	Het
Pus1	A	G	5: 110,774,586	L405P	probably damaging	Het
Qtrt2	T	A	16: 43,881,032	H55L	probably benign	Het
Rasgrp1	T	C	2: 117,287,943	I522V	probably damaging	Het
Raver2	T	A	4: 101,102,663	H113Q	probably damaging	Het
Recql4	T	C	15: 76,705,565	D760G	unknown	Het
Rhobtb3	C	T	13: 75,910,741	V313M	probably benign	Het
Rhox4d	G	A	X: 37,518,992	G191E	unknown	Het
Rictor	C	T	15: 6,772,154	S441L	probably benign	Het
Rnf185	T	C	11: 3,426,578	Q135R	probably benign	Het
Sema3f	T	C	9: 107,684,036	S584G	probably damaging	Het
Sh3pxd2a	T	A	19: 47,267,652	T904S	probably benign	Het
Slc4a10	T	C	2: 62,303,946	V1002A	probably benign	Het
Taf1b	T	C	12: 24,504,993	I55T	probably benign	Het
Tchh	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	3: 93,446,708		probably benign	Het
Tenm4	A	T	7: 96,874,213	D1654V	possibly damaging	Het
Tgfb1	G	A	7: 25,704,838	V357M	probably damaging	Het
Tnxb	C	T	17: 34,703,361	P2383S	possibly damaging	Het
Trpm1	A	T	7: 64,208,975	M382L	probably benign	Het
Trrap	A	G	5: 144,851,209	Y3516C	probably damaging	Het
Txnrd1	T	A	10: 82,885,233	Y494*	probably null	Het
Ubr2	C	T	17: 46,964,788	E811K	probably damaging	Het
Ubxn4	T	A	1: 128,244,543	F25I	possibly damaging	Het
Vmn2r117	A	G	17: 23,459,895	M785T	probably damaging	Het
Vmn2r99	G	A	17: 19,379,145	D364N	probably benign	Het
Vps45	C	A	3: 96,047,136		probably null	Het
Wdr25	A	C	12: 109,026,441	H426P	probably damaging	Het
Wdr83	A	T	8: 85,079,681	W136R	probably damaging	Het
Xylt1	A	C	7: 117,592,005	I343L	possibly damaging	Het
Znrd1as	A	G	17: 36,964,383	D16G	probably damaging	Het
Zscan4b	T	C	7: 10,904,058	Q53R	possibly damaging	Het

Other mutations in Eva1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01710:Eva1c	APN	16	90904347	missense	probably damaging	1.00
IGL02061:Eva1c	APN	16	90866275	nonsense	probably null
R0067:Eva1c	UTSW	16	90866417	missense	possibly damaging	0.65
R0067:Eva1c	UTSW	16	90866417	missense	possibly damaging	0.65
R0455:Eva1c	UTSW	16	90876098	missense	probably benign	0.03
R1330:Eva1c	UTSW	16	90904396	missense	probably damaging	1.00
R1765:Eva1c	UTSW	16	90904247	missense	probably benign	0.01
R1824:Eva1c	UTSW	16	90866443	missense	probably benign	0.01
R1880:Eva1c	UTSW	16	90897415	missense	possibly damaging	0.75
R2248:Eva1c	UTSW	16	90831325	missense	probably benign	0.12
R4072:Eva1c	UTSW	16	90904131	missense	probably damaging	1.00
R4076:Eva1c	UTSW	16	90904131	missense	probably damaging	1.00
R4622:Eva1c	UTSW	16	90897455	critical splice donor site	probably null
R4760:Eva1c	UTSW	16	90904250	missense	probably benign	0.37
R4767:Eva1c	UTSW	16	90904347	missense	probably damaging	1.00
R5024:Eva1c	UTSW	16	90876193	critical splice donor site	probably null
R5304:Eva1c	UTSW	16	90869663	missense	probably damaging	1.00
R5559:Eva1c	UTSW	16	90904251	missense	probably benign	0.06
R6605:Eva1c	UTSW	16	90866348	missense	probably damaging	1.00
R7222:Eva1c	UTSW	16	90904184	small deletion	probably benign
R7409:Eva1c	UTSW	16	90869656	missense	probably damaging	1.00
R8489:Eva1c	UTSW	16	90876111	missense	probably damaging	1.00
R8687:Eva1c	UTSW	16	90890545	missense	probably benign	0.42
R9091:Eva1c	UTSW	16	90904343	missense	probably benign	0.04
R9270:Eva1c	UTSW	16	90904343	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- TGCTTCCTCTCCAGATGAGTTG -3'
(R):5'- CTCGCAACTGCAGAACTTGTAC -3'

Sequencing Primer
(F):5'- CTTCCTCTCCAGATGAGTTGAAAAAC -3'
(R):5'- GATGAGTTCCCAGTGCCTAGAAC -3'

Posted On

2019-10-07