Mutagenetix > Incidental Mutation

Incidental Mutation 'R4076:Eva1c'

316581

Institutional Source

Beutler Lab

Gene Symbol

Eva1c

Ensembl Gene

ENSMUSG00000039903

Gene Name

eva-1 homolog C (C. elegans)

Synonyms

MMRRC Submission

040975-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R4076 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

90826719-90905109 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 90904131 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 331 (F331Y)

Ref Sequence

ENSEMBL: ENSMUSP00000097145 (fasta)

Gene Model

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

AlphaFold

P58659

Predicted Effect

probably damaging
Transcript: ENSMUST00000037539
AA Change: F325Y

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000036695
Gene: ENSMUSG00000039903
AA Change: F325Y

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 damaging
Transcript: ENSMUST00000099543
AA Change: F277Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097141
Gene: ENSMUSG00000039903
AA Change: F277Y

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 damaging
Transcript: ENSMUST00000099548
AA Change: F331Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097145
Gene: ENSMUSG00000039903
AA Change: F331Y

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: ENSMUST00000152223

SMART Domains

Protein: ENSMUSP00000119510
Gene: ENSMUSG00000039903

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000231280
AA Change: F218Y

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000231964
AA Change: F230Y

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232274

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232665

Meta Mutation Damage Score

0.1168

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm4	T	A	7: 119,698,758	L206H	probably benign	Het
Anxa5	T	C	3: 36,450,380	I277V	probably benign	Het
Atg12	A	G	18: 46,737,424	F92L	probably benign	Het
Cd48	T	A	1: 171,695,883	V98D	probably damaging	Het
Dnah11	A	G	12: 118,045,678	M2083T	probably benign	Het
Dnah9	T	C	11: 66,084,904	T1440A	probably benign	Het
Dnali1	T	C	4: 125,059,470	D188G	probably damaging	Het
Dst	A	G	1: 34,192,269	E2656G	probably benign	Het
Eps15l1	A	G	8: 72,380,284	I482T	probably damaging	Het
Ercc4	G	A	16: 13,130,685	V499I	probably damaging	Het
Fcho1	T	C	8: 71,710,369	H672R	probably damaging	Het
Fras1	G	C	5: 96,743,158	D2849H	probably damaging	Het
Gm5346	A	T	8: 43,626,350	F279Y	probably damaging	Het
Hdc	C	T	2: 126,616,261	R47Q	possibly damaging	Het
Ighv1-30	C	T	12: 114,817,401		noncoding transcript	Het
Krtap31-1	T	C	11: 99,908,232	I87T	possibly damaging	Het
Lamp3	A	G	16: 19,700,716	L239P	possibly damaging	Het
Ltb4r2	A	T	14: 55,762,941	R340W	probably benign	Het
Map10	T	C	8: 125,671,845	V659A	probably benign	Het
Nars2	T	A	7: 96,958,094	S91T	probably damaging	Het
Nlrp4c	A	G	7: 6,072,710	K667E	probably benign	Het
Obox3	G	T	7: 15,625,799	T315N	possibly damaging	Het
Olfr1469	G	A	19: 13,410,935	R122H	possibly damaging	Het
Olfr670	A	T	7: 104,960,716	N5K	probably damaging	Het
Osgin1	A	C	8: 119,445,033	S189R	possibly damaging	Het
Pidd1	A	G	7: 141,440,826	F453L	probably damaging	Het
Pik3c2g	A	T	6: 139,852,863	N373I	probably damaging	Het
Pou2f2	T	C	7: 25,097,288	T270A	probably damaging	Het
Rad51b	T	G	12: 79,314,882	S122R	probably damaging	Het
Rev1	T	G	1: 38,054,238	K1075T	possibly damaging	Het
Rrbp1	T	G	2: 143,963,110	Q1045P	probably benign	Het
Scg2	A	C	1: 79,436,857	F50V	probably damaging	Het
Slco1a5	A	T	6: 142,268,224	I57K	possibly damaging	Het
Tfb1m	T	A	17: 3,521,670	R257W	probably damaging	Het
Tm2d3	T	A	7: 65,697,750	L49*	probably null	Het
Usp31	A	G	7: 121,667,782		probably null	Het
Zbtb11	C	T	16: 55,998,064	T617I	possibly damaging	Het
Zfp608	A	T	18: 54,898,108	V920E	probably 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
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
R7449:Eva1c	UTSW	16	90876193	critical splice donor site	probably null
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'- AGGTGTGCTCAACCAATGG -3'
(R):5'- AACTGCGAATCCGAGGAGTC -3'

Sequencing Primer
(F):5'- CAGGTCTCGTGCTAGGAACATGATC -3'
(R):5'- GGAGTCCTCCTCTTCCAAGTC -3'

Posted On

2015-05-15