Mutagenetix > Incidental Mutation

Incidental Mutation 'R5304:Eva1c'

404463

Institutional Source

Beutler Lab

Gene Symbol

Eva1c

Ensembl Gene

ENSMUSG00000039903

Gene Name

eva-1 homolog C

Synonyms

4931408A02Rik, 1700092M14Rik, Fam176c

MMRRC Submission

042887-MU

Accession Numbers

Essential gene?

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

Stock #

R5304 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90623607-90701997 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 90666551 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 158 (L158P)

Ref Sequence

ENSEMBL: ENSMUSP00000097145 (fasta)

Gene Model

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

AlphaFold

P58659

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037539
AA Change: L152P

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000036695
Gene: ENSMUSG00000039903
AA Change: L152P

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

possibly damaging
Transcript: ENSMUST00000099543
AA Change: L152P

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000097141
Gene: ENSMUSG00000039903
AA Change: L152P

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: L158P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000097145
Gene: ENSMUSG00000039903
AA Change: L158P

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

possibly damaging
Transcript: ENSMUST00000154180
AA Change: L57P

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000119830
Gene: ENSMUSG00000039903
AA Change: L57P

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 benign
Transcript: ENSMUST00000231280

Predicted Effect

possibly damaging
Transcript: ENSMUST00000231964
AA Change: L57P

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232665

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232274

Meta Mutation Damage Score

0.9519

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

99% (87/88)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	C	T	11: 7,014,198 (GRCm39)	A200V	probably benign	Het
Adgrv1	T	C	13: 81,726,372 (GRCm39)	D551G	possibly damaging	Het
Aldh3a2	A	G	11: 61,144,538 (GRCm39)	V340A	probably damaging	Het
Amy1	C	A	3: 113,352,013 (GRCm39)	C393F	probably damaging	Het
Ankrd16	T	C	2: 11,794,545 (GRCm39)	V310A	probably benign	Het
Arhgef15	T	C	11: 68,838,063 (GRCm39)	S686G	probably null	Het
Arid4b	T	A	13: 14,361,514 (GRCm39)	N659K	probably benign	Het
Asz1	C	T	6: 18,076,619 (GRCm39)	R191Q	probably benign	Het
Atp2a3	A	G	11: 72,879,383 (GRCm39)	I947V	probably damaging	Het
AW011738	G	A	4: 156,287,969 (GRCm39)		probably benign	Het
Bfsp1	G	T	2: 143,669,211 (GRCm39)	T456K	probably benign	Het
Cdc25c	T	C	18: 34,883,864 (GRCm39)	T40A	possibly damaging	Het
Cdh20	G	A	1: 110,036,569 (GRCm39)	C583Y	probably damaging	Het
Ceacam23	A	C	7: 17,636,617 (GRCm39)	E231D	probably benign	Het
Cfap54	A	T	10: 92,656,968 (GRCm39)	L3028Q	probably damaging	Het
Chd1	A	G	17: 15,975,213 (GRCm39)	S1088G	probably benign	Het
Chd1	A	T	17: 15,990,530 (GRCm39)	H1694L	possibly damaging	Het
Cstf3	G	T	2: 104,493,735 (GRCm39)	E580*	probably null	Het
Dip2a	A	T	10: 76,130,357 (GRCm39)	M622K	possibly damaging	Het
Dlgap1	A	T	17: 71,122,202 (GRCm39)	H877L	probably damaging	Het
Egfr	G	T	11: 16,834,260 (GRCm39)	M122I	probably benign	Het
Etfbkmt	T	A	6: 149,048,704 (GRCm39)	D114E	probably damaging	Het
Exo1	G	A	1: 175,720,542 (GRCm39)	V287M	probably damaging	Het
Fam171a1	T	C	2: 3,226,654 (GRCm39)	Y471H	probably damaging	Het
Fermt1	T	A	2: 132,783,986 (GRCm39)	T8S	probably benign	Het
Fgfr2	G	T	7: 129,769,504 (GRCm39)	P630T	probably damaging	Het
Fmo5	G	A	3: 97,558,938 (GRCm39)	G466E	probably damaging	Het
Hcn4	A	G	9: 58,751,215 (GRCm39)	I280M	probably benign	Het
Ifi208	A	C	1: 173,511,174 (GRCm39)	K443T	probably benign	Het
Irs3	A	G	5: 137,643,003 (GRCm39)	F145S	probably benign	Het
Kirrel1	T	A	3: 86,996,902 (GRCm39)	H300L	probably benign	Het
Krit1	A	G	5: 3,869,326 (GRCm39)	Q340R	probably damaging	Het
Lipo5	T	C	19: 33,445,149 (GRCm39)	D140G	unknown	Het
Lrrtm4	A	T	6: 79,999,683 (GRCm39)	Q365L	probably benign	Het
Lrwd1	G	T	5: 136,160,004 (GRCm39)	T353K	possibly damaging	Het
Lsm14a	A	T	7: 34,053,154 (GRCm39)	S240R	possibly damaging	Het
Map3k5	A	G	10: 19,983,984 (GRCm39)	I870V	probably benign	Het
Matcap2	A	T	9: 22,335,528 (GRCm39)	T49S	probably benign	Het
Mmp17	A	T	5: 129,671,678 (GRCm39)	E76V	probably null	Het
Mphosph10	A	G	7: 64,038,732 (GRCm39)	F272L	probably damaging	Het
Mtcl2	G	A	2: 156,865,737 (GRCm39)	Q1127*	probably null	Het
Myh10	A	G	11: 68,655,071 (GRCm39)	K380R	probably damaging	Het
Myo3b	C	T	2: 70,257,232 (GRCm39)	P1282L	probably damaging	Het
Nemp2	T	C	1: 52,682,238 (GRCm39)		probably benign	Het
Ola1	T	C	2: 73,029,778 (GRCm39)	I114V	probably damaging	Het
Or4c3d	T	A	2: 89,882,257 (GRCm39)	H137L	probably benign	Het
Or8k28	T	A	2: 86,285,779 (GRCm39)	T279S	probably damaging	Het
Pabpc4	T	G	4: 123,184,100 (GRCm39)	D204E	probably benign	Het
Pigr	A	T	1: 130,777,230 (GRCm39)	M679L	probably benign	Het
Pik3c2b	A	T	1: 132,998,146 (GRCm39)	M341L	possibly damaging	Het
Plin4	T	A	17: 56,413,132 (GRCm39)	T498S	probably benign	Het
Ppp2r5e	A	G	12: 75,562,459 (GRCm39)	S15P	possibly damaging	Het
Prdm13	T	C	4: 21,678,984 (GRCm39)	Y502C	probably damaging	Het
Ptprk	T	C	10: 28,468,050 (GRCm39)		probably null	Het
Rapgef6	T	C	11: 54,548,200 (GRCm39)	S505P	probably benign	Het
Rgmb	G	T	17: 16,040,990 (GRCm39)	S199*	probably null	Het
Rgsl1	T	C	1: 153,703,238 (GRCm39)	T173A	probably damaging	Het
Rhobtb1	G	T	10: 69,105,742 (GRCm39)	K102N	probably damaging	Het
Ripor2	A	T	13: 24,858,649 (GRCm39)	D147V	probably damaging	Het
Rsad2	A	T	12: 26,500,681 (GRCm39)	V202E	probably damaging	Het
Slc1a6	A	G	10: 78,629,141 (GRCm39)	N186S	probably damaging	Het
Sorbs3	G	A	14: 70,422,345 (GRCm39)	R622*	probably null	Het
Spag9	C	A	11: 93,959,838 (GRCm39)	D342E	probably damaging	Het
Srgap3	T	C	6: 112,743,900 (GRCm39)	Y446C	probably damaging	Het
Thsd7b	C	T	1: 129,605,980 (GRCm39)	R574*	probably null	Het
Tmem74	A	T	15: 43,730,217 (GRCm39)	Y275*	probably null	Het
Topors	A	T	4: 40,262,541 (GRCm39)	S248T	possibly damaging	Het
Trpm1	A	T	7: 63,858,694 (GRCm39)	Y239F	probably benign	Het
Ttn	T	A	2: 76,548,527 (GRCm39)	Y30179F	possibly damaging	Het
Ugt2b34	A	T	5: 87,040,724 (GRCm39)	F399L	probably damaging	Het
Ush2a	A	T	1: 188,088,995 (GRCm39)	I317F	probably damaging	Het
Usp1	T	C	4: 98,822,855 (GRCm39)	V723A	probably benign	Het
Usp34	T	G	11: 23,293,616 (GRCm39)	L237V	probably damaging	Het
Vgf	A	T	5: 137,061,140 (GRCm39)	D434V	probably damaging	Het
Vmn1r179	A	G	7: 23,628,100 (GRCm39)	N97S	probably benign	Het
Vps13a	A	G	19: 16,687,751 (GRCm39)	L899P	possibly damaging	Het
Vps33b	A	T	7: 79,924,001 (GRCm39)	I41F	probably damaging	Het
Zap70	A	T	1: 36,817,299 (GRCm39)	H210L	probably damaging	Het
Zc3h8	T	C	2: 128,770,835 (GRCm39)	D300G	probably benign	Het
Zfp958	C	A	8: 4,676,196 (GRCm39)	H55N	possibly damaging	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
R2248:Eva1c	UTSW	16	90,628,213 (GRCm39)	missense	probably benign	0.12
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
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'- CAGATCAAGGCAGGTTTGGG -3'
(R):5'- GCAGTTGACTTTTACACCTTGAGAAAG -3'

Sequencing Primer
(F):5'- AGGTTTGGGGTCCAGCAGAC -3'
(R):5'- ACTCATAAGTAGGAGCACACATGTG -3'

Posted On

2016-07-22