Mutagenetix > Incidental Mutation

Incidental Mutation 'R4760:Eva1c'

356839

Institutional Source

Beutler Lab

Gene Symbol

Eva1c

Ensembl Gene

ENSMUSG00000039903

Gene Name

eva-1 homolog C

Synonyms

4931408A02Rik, 1700092M14Rik, Fam176c

MMRRC Submission

041974-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R4760 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90623607-90701997 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 90701138 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 258 (D258N)

Ref Sequence

ENSEMBL: ENSMUSP00000156225 (fasta)

Gene Model

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

AlphaFold

P58659

Predicted Effect

probably benign
Transcript: ENSMUST00000037539
AA Change: D365N

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000036695
Gene: ENSMUSG00000039903
AA Change: D365N

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: D317N

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000097141
Gene: ENSMUSG00000039903
AA Change: D317N

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
AA Change: D371N

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000097145
Gene: ENSMUSG00000039903
AA Change: D371N

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 benign
Transcript: ENSMUST00000231280
AA Change: D258N

PolyPhen 2 Score 0.372 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000231964
AA Change: D270N

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232274

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232665

Meta Mutation Damage Score

0.0711

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

98% (90/92)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530053G22Rik	A	G	6: 60,379,086 (GRCm39)		noncoding transcript	Het
Abcc2	A	T	19: 43,798,920 (GRCm39)	Y512F	probably benign	Het
Adgrb1	T	A	15: 74,443,312 (GRCm39)	I51N	probably damaging	Het
Adhfe1	A	G	1: 9,633,748 (GRCm39)	Y332C	probably damaging	Het
Ambn	C	T	5: 88,615,566 (GRCm39)	L317F	probably damaging	Het
Amn1	T	C	6: 149,086,611 (GRCm39)	Y17C	probably benign	Het
Apoa5	T	C	9: 46,181,593 (GRCm39)	V223A	probably damaging	Het
Best3	A	T	10: 116,860,699 (GRCm39)	H653L	probably benign	Het
Btnl2	C	A	17: 34,582,169 (GRCm39)	S245Y	probably damaging	Het
Camk1d	A	G	2: 5,366,867 (GRCm39)	L116P	probably damaging	Het
Catsperg2	T	A	7: 29,405,060 (GRCm39)	D698V	probably damaging	Het
Cd33	T	C	7: 43,178,919 (GRCm39)	T307A	probably benign	Het
Cdk8	C	T	5: 146,229,476 (GRCm39)	S230L	probably benign	Het
Cfap69	C	T	5: 5,696,939 (GRCm39)	C119Y	probably damaging	Het
Chat	T	C	14: 32,175,694 (GRCm39)	N122S	probably benign	Het
Col20a1	A	T	2: 180,626,196 (GRCm39)		probably benign	Het
Cyp2j9	A	T	4: 96,457,028 (GRCm39)	L481Q	probably damaging	Het
Dab1	A	C	4: 104,589,342 (GRCm39)	S550R	probably damaging	Het
Dlgap2	A	C	8: 14,823,380 (GRCm39)	Q533P	probably damaging	Het
Eif4g3	A	T	4: 137,811,629 (GRCm39)	Q31L	possibly damaging	Het
Ets2	G	A	16: 95,520,087 (GRCm39)	V438M	probably damaging	Het
Fastkd2	A	G	1: 63,785,045 (GRCm39)	H477R	probably benign	Het
Fga	T	G	3: 82,938,821 (GRCm39)	S399A	probably benign	Het
Fmo4	T	A	1: 162,637,396 (GRCm39)	E32V	probably damaging	Het
Gm7204	T	A	16: 48,039,051 (GRCm39)		noncoding transcript	Het
Gpi-ps	G	A	8: 5,690,473 (GRCm39)		noncoding transcript	Het
Hhipl1	A	G	12: 108,286,336 (GRCm39)	I548V	probably damaging	Het
Hsfy2	T	C	1: 56,676,349 (GRCm39)	T63A	probably benign	Het
Igf2r	A	G	17: 12,922,352 (GRCm39)	V1254A	possibly damaging	Het
Ighv8-4	A	T	12: 114,987,667 (GRCm39)	D110E	probably damaging	Het
Igkv14-130	T	C	6: 67,768,446 (GRCm39)	S101P	probably benign	Het
Igkv9-120	G	T	6: 68,027,351 (GRCm39)	R88S	possibly damaging	Het
Ipo5	T	C	14: 121,179,054 (GRCm39)	V779A	probably benign	Het
Itpr1	C	T	6: 108,326,593 (GRCm39)	T105I	probably benign	Het
Kalrn	T	C	16: 34,018,857 (GRCm39)	M670V	probably damaging	Het
Kdm8	T	A	7: 125,054,431 (GRCm39)		probably null	Het
Kics2	T	C	10: 121,575,912 (GRCm39)	V11A	probably damaging	Het
L3hypdh	T	C	12: 72,124,016 (GRCm39)	I281V	probably benign	Het
Lins1	T	G	7: 66,364,435 (GRCm39)		probably benign	Het
Map4k5	T	A	12: 69,871,372 (GRCm39)	I517L	possibly damaging	Het
Marchf2	G	T	17: 33,928,890 (GRCm39)	T2K	probably damaging	Het
Mlkl	C	G	8: 112,046,348 (GRCm39)		probably null	Het
Mllt1	A	G	17: 57,209,630 (GRCm39)	M160T	probably benign	Het
Mmp15	G	A	8: 96,094,824 (GRCm39)	A233T	possibly damaging	Het
Moxd2	C	A	6: 40,868,537 (GRCm39)	T23N	probably benign	Het
Nop53	C	A	7: 15,676,812 (GRCm39)	K100N	probably benign	Het
Nrg1	C	A	8: 32,408,228 (GRCm39)	E2*	probably null	Het
Or52u1	T	A	7: 104,237,696 (GRCm39)	H228Q	probably benign	Het
Pank4	A	G	4: 155,059,091 (GRCm39)	D408G	possibly damaging	Het
Pcdhb10	T	C	18: 37,544,995 (GRCm39)	W24R	probably benign	Het
Pcm1	C	T	8: 41,740,775 (GRCm39)	T968I	probably damaging	Het
Pkib	G	T	10: 57,584,246 (GRCm39)	M19I	probably benign	Het
Ppy	A	G	11: 101,991,345 (GRCm39)		probably null	Het
Pramel21	G	A	4: 143,343,801 (GRCm39)	R367K	probably benign	Het
Prdx3	A	C	19: 60,861,621 (GRCm39)	C39W	possibly damaging	Het
Qrfpr	T	G	3: 36,276,073 (GRCm39)	N106H	probably benign	Het
Rai14	G	A	15: 10,575,776 (GRCm39)	T394M	possibly damaging	Het
Ralgapa2	A	T	2: 146,188,669 (GRCm39)	L1371Q	probably benign	Het
Rbm12	A	G	2: 155,939,048 (GRCm39)	L408P	probably damaging	Het
Rdx	T	C	9: 51,977,174 (GRCm39)	I141T	probably benign	Het
Reep1	T	A	6: 71,684,985 (GRCm39)	V11E	possibly damaging	Het
Relch	T	A	1: 105,649,030 (GRCm39)	M723K	probably benign	Het
Sall4	A	G	2: 168,592,347 (GRCm39)	S936P	probably damaging	Het
Serac1	A	G	17: 6,102,065 (GRCm39)	M403T	possibly damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slc35g2	T	G	9: 100,435,549 (GRCm39)	I41L	probably benign	Het
Slc39a12	G	A	2: 14,405,134 (GRCm39)	S242N	probably benign	Het
Slc9a2	T	A	1: 40,801,076 (GRCm39)	D535E	probably damaging	Het
Spata31d1a	G	T	13: 59,849,459 (GRCm39)	P890T	probably damaging	Het
Sync	A	G	4: 129,187,232 (GRCm39)	Q88R	probably benign	Het
Tdrp	A	G	8: 14,024,527 (GRCm39)		probably benign	Het
Tg	G	T	15: 66,565,168 (GRCm39)	C1170F	probably damaging	Het
Tnks	A	T	8: 35,318,937 (GRCm39)	D781E	probably benign	Het
Tnp2	T	A	16: 10,606,207 (GRCm39)	T87S	possibly damaging	Het
Tpp2	T	C	1: 44,010,875 (GRCm39)	V554A	probably benign	Het
Traf3ip2	T	C	10: 39,521,735 (GRCm39)	I431T	probably damaging	Het
Trav9d-4	A	T	14: 53,221,258 (GRCm39)	H84L	probably damaging	Het
Vmn2r42	T	A	7: 8,187,276 (GRCm39)	Y782F	probably damaging	Het
Vwf	T	C	6: 125,547,567 (GRCm39)	S231P	probably damaging	Het
Wdr83os	A	G	8: 85,808,496 (GRCm39)	S83G	probably damaging	Het
Wdr91	T	A	6: 34,885,234 (GRCm39)	Q109L	probably damaging	Het
Znrf4	A	G	17: 56,818,864 (GRCm39)	C148R	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
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'- TCCTGGTCCACTGTGATGAAAAC -3'
(R):5'- TGAATGACTTGCTCCCTGCG -3'

Sequencing Primer
(F):5'- AGATTTTACCACATGAGCCTGTCG -3'
(R):5'- GCGTTCAATCCTTTCCGCCAG -3'

Posted On

2015-11-11