Mutagenetix > Incidental Mutation

Incidental Mutation 'R2248:Eva1c'

240985

Institutional Source

Beutler Lab

Gene Symbol

Eva1c

Ensembl Gene

ENSMUSG00000039903

Gene Name

eva-1 homolog C

Synonyms

4931408A02Rik, 1700092M14Rik, Fam176c

MMRRC Submission

040248-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R2248 (G1)

Quality Score

104

Status

Validated

Chromosome

Chromosomal Location

90623607-90701997 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 90628213 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 18 (N18S)

Ref Sequence

ENSEMBL: ENSMUSP00000097141 (fasta)

Gene Model

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

AlphaFold

P58659

Predicted Effect

probably benign
Transcript: ENSMUST00000037539
AA Change: N18S

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000036695
Gene: ENSMUSG00000039903
AA Change: N18S

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 benign
Transcript: ENSMUST00000099543
AA Change: N18S

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000097141
Gene: ENSMUSG00000039903
AA Change: N18S

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 benign
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
AA Change: N18S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000121430
Gene: ENSMUSG00000039903
AA Change: N18S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138064

Predicted Effect

probably benign
Transcript: ENSMUST00000152223
AA Change: N18S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000119510
Gene: ENSMUSG00000039903
AA Change: N18S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000231280
AA Change: N18S

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232274

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232665

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (67/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	A	G	2: 25,323,476 (GRCm39)		probably benign	Het
Afp	A	G	5: 90,649,429 (GRCm39)	D332G	probably damaging	Het
AI593442	TGAGGAGGAGGAGGAGGA	TGAGGAGGAGGAGGA	9: 52,589,114 (GRCm39)		probably benign	Het
Aldh1a2	A	T	9: 71,123,144 (GRCm39)	I6F	possibly damaging	Het
Alg6	C	T	4: 99,626,444 (GRCm39)	A84V	probably damaging	Het
Ank	T	A	15: 27,562,797 (GRCm39)		probably null	Het
Ano5	A	T	7: 51,243,537 (GRCm39)	M837L	probably benign	Het
Arl8b	A	G	6: 108,760,304 (GRCm39)	Y30C	probably benign	Het
Bfsp1	A	T	2: 143,669,572 (GRCm39)		probably null	Het
Cdhr1	C	G	14: 36,803,334 (GRCm39)	V581L	probably benign	Het
Chst8	G	T	7: 34,447,597 (GRCm39)	T7K	probably damaging	Het
Clca3b	T	C	3: 144,530,980 (GRCm39)	K790R	probably benign	Het
Clta	A	G	4: 44,012,852 (GRCm39)	N21D	probably damaging	Het
Col6a4	T	G	9: 105,957,158 (GRCm39)	E222A	probably benign	Het
Dcc	G	T	18: 71,959,239 (GRCm39)	Q178K	probably benign	Het
Dpysl3	T	C	18: 43,491,358 (GRCm39)	D140G	possibly damaging	Het
Dthd1	A	T	5: 63,007,243 (GRCm39)	D648V	probably damaging	Het
Flnc	A	G	6: 29,451,400 (GRCm39)	H1538R	probably damaging	Het
Foxn3	T	C	12: 99,162,815 (GRCm39)	E362G	probably benign	Het
Frk	C	A	10: 34,484,527 (GRCm39)	T500K	probably benign	Het
Glipr1l1	A	G	10: 111,898,192 (GRCm39)	E99G	probably benign	Het
Gphn	T	C	12: 78,501,595 (GRCm39)	L120P	probably damaging	Het
Gpr152	T	C	19: 4,193,805 (GRCm39)	S449P	probably benign	Het
Greb1	T	A	12: 16,730,379 (GRCm39)	I1655F	possibly damaging	Het
Hectd1	G	T	12: 51,853,254 (GRCm39)	T89N	probably damaging	Het
Helz2	A	C	2: 180,875,226 (GRCm39)	I1756S	probably benign	Het
Hydin	G	T	8: 111,304,835 (GRCm39)	R3825L	probably benign	Het
Ifi207	G	A	1: 173,564,036 (GRCm39)		probably benign	Het
Itpr3	A	T	17: 27,334,033 (GRCm39)	E2035V	probably damaging	Het
Khnyn	T	A	14: 56,124,195 (GRCm39)	S150T	probably benign	Het
Kif21b	T	C	1: 136,100,704 (GRCm39)	I1595T	probably damaging	Het
Lgsn	A	T	1: 31,242,607 (GRCm39)	T230S	possibly damaging	Het
Limch1	G	T	5: 67,201,742 (GRCm39)	G838V	probably damaging	Het
Lrp2	T	A	2: 69,341,354 (GRCm39)	D942V	probably damaging	Het
Lrrc31	T	A	3: 30,744,050 (GRCm39)	T153S	possibly damaging	Het
Mal2	T	A	15: 54,451,732 (GRCm39)	I51N	probably damaging	Het
Matcap2	A	G	9: 22,355,410 (GRCm39)	T482A	probably benign	Het
Mroh2a	T	C	1: 88,184,476 (GRCm39)	V1453A	probably benign	Het
Mycbp2	T	A	14: 103,407,295 (GRCm39)	Q385L	possibly damaging	Het
Nav3	T	A	10: 109,532,088 (GRCm39)	D2117V	probably damaging	Het
Ntn1	T	C	11: 68,168,398 (GRCm39)	N353S	possibly damaging	Het
Oas1c	T	C	5: 120,940,926 (GRCm39)	E289G	possibly damaging	Het
Or2m13	A	G	16: 19,225,944 (GRCm39)	V274A	probably damaging	Het
Or4a81	C	A	2: 89,619,524 (GRCm39)	M57I	possibly damaging	Het
Or5w17	T	C	2: 87,584,287 (GRCm39)	I17V	probably null	Het
Plk1	A	G	7: 121,768,044 (GRCm39)		probably benign	Het
Pms2	G	A	5: 143,853,324 (GRCm39)	V230M	probably damaging	Het
Pole3	C	A	4: 62,443,250 (GRCm39)		probably benign	Het
Ppp2r5c	T	C	12: 110,452,357 (GRCm39)	F22S	probably benign	Het
Prp2rt	C	A	13: 97,235,406 (GRCm39)	V114F	possibly damaging	Het
Ptcd3	A	T	6: 71,871,269 (GRCm39)		probably null	Het
Ptprq	A	T	10: 107,478,931 (GRCm39)		probably null	Het
Rab18	T	A	18: 6,788,629 (GRCm39)	C199S	probably damaging	Het
Rbp3	C	T	14: 33,677,975 (GRCm39)	T641M	probably damaging	Het
Sacs	A	G	14: 61,450,251 (GRCm39)	N4099S	probably damaging	Het
Sh3yl1	T	A	12: 30,992,869 (GRCm39)		probably null	Het
Slco1c1	T	A	6: 141,492,415 (GRCm39)	I217N	probably damaging	Het
Syne2	C	T	12: 76,143,678 (GRCm39)	T6241I	probably damaging	Het
Tas2r119	T	C	15: 32,178,297 (GRCm39)	F288L	possibly damaging	Het
Tmod2	G	T	9: 75,499,931 (GRCm39)	T107N	probably benign	Het
Trappc6b	T	C	12: 59,097,167 (GRCm39)	T52A	probably damaging	Het
Tsen54	A	G	11: 115,706,232 (GRCm39)	E122G	probably damaging	Het
Tspear	A	G	10: 77,709,103 (GRCm39)	N443S	probably damaging	Het
Unc80	A	G	1: 66,662,365 (GRCm39)		probably benign	Het
Virma	T	A	4: 11,518,927 (GRCm39)	Y725N	probably damaging	Het
Vwa7	G	A	17: 35,238,019 (GRCm39)	D207N	probably benign	Het

Other mutations in Eva1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01710:Eva1c	APN	16	90,701,235 (GRCm39)	missense	probably damaging	1.00
IGL02061:Eva1c	APN	16	90,663,163 (GRCm39)	nonsense	probably null
R0067:Eva1c	UTSW	16	90,663,305 (GRCm39)	missense	possibly damaging	0.65
R0067:Eva1c	UTSW	16	90,663,305 (GRCm39)	missense	possibly damaging	0.65
R0455:Eva1c	UTSW	16	90,672,986 (GRCm39)	missense	probably benign	0.03
R1330:Eva1c	UTSW	16	90,701,284 (GRCm39)	missense	probably damaging	1.00
R1765:Eva1c	UTSW	16	90,701,135 (GRCm39)	missense	probably benign	0.01
R1824:Eva1c	UTSW	16	90,663,331 (GRCm39)	missense	probably benign	0.01
R1880:Eva1c	UTSW	16	90,694,303 (GRCm39)	missense	possibly damaging	0.75
R4072:Eva1c	UTSW	16	90,701,019 (GRCm39)	missense	probably damaging	1.00
R4076:Eva1c	UTSW	16	90,701,019 (GRCm39)	missense	probably damaging	1.00
R4622:Eva1c	UTSW	16	90,694,343 (GRCm39)	critical splice donor site	probably null
R4760:Eva1c	UTSW	16	90,701,138 (GRCm39)	missense	probably benign	0.37
R4767:Eva1c	UTSW	16	90,701,235 (GRCm39)	missense	probably damaging	1.00
R5024:Eva1c	UTSW	16	90,673,081 (GRCm39)	critical splice donor site	probably null
R5304:Eva1c	UTSW	16	90,666,551 (GRCm39)	missense	probably damaging	1.00
R5559:Eva1c	UTSW	16	90,701,139 (GRCm39)	missense	probably benign	0.06
R6605:Eva1c	UTSW	16	90,663,236 (GRCm39)	missense	probably damaging	1.00
R7222:Eva1c	UTSW	16	90,701,072 (GRCm39)	small deletion	probably benign
R7409:Eva1c	UTSW	16	90,666,544 (GRCm39)	missense	probably damaging	1.00
R7449:Eva1c	UTSW	16	90,673,081 (GRCm39)	critical splice donor site	probably null
R8489:Eva1c	UTSW	16	90,672,999 (GRCm39)	missense	probably damaging	1.00
R8687:Eva1c	UTSW	16	90,687,433 (GRCm39)	missense	probably benign	0.42
R9091:Eva1c	UTSW	16	90,701,231 (GRCm39)	missense	probably benign	0.04
R9270:Eva1c	UTSW	16	90,701,231 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- TGAAGAAACTACGCCTCGG -3'
(R):5'- TAATCCAACCAGGTAGTGCCC -3'

Sequencing Primer
(F):5'- GCGACCGCCTAAGAAGCTC -3'
(R):5'- AACCAGGTAGTGCCCCATGC -3'

Posted On

2014-10-15