Mutagenetix > Incidental Mutation

Incidental Mutation 'R2080:Yjefn3'

229421

Institutional Source

Beutler Lab

Gene Symbol

Yjefn3

Ensembl Gene

ENSMUSG00000048967

Gene Name

YjeF N-terminal domain containing 3

Synonyms

LOC234365

MMRRC Submission

040085-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.267) question?

Stock #

R2080 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70340438-70346633 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70342137 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 28 (N28D)

Ref Sequence

ENSEMBL: ENSMUSP00000136145 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057831] [ENSMUST00000110167] [ENSMUST00000152938] [ENSMUST00000180068]

AlphaFold

F6W8I0

Predicted Effect

probably benign
Transcript: ENSMUST00000057831

SMART Domains

Protein: ENSMUSP00000061544
Gene: ENSMUSG00000044006

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:Mucin2_WxxW	58	143	2.5e-22	PFAM
TSP1	149	197	1.33e-9	SMART
Pfam:CarboxypepD_reg	210	288	4.5e-10	PFAM
IGc2	305	367	2.52e-9	SMART
low complexity region	472	481	N/A	INTRINSIC
low complexity region	614	632	N/A	INTRINSIC
low complexity region	693	703	N/A	INTRINSIC
low complexity region	705	719	N/A	INTRINSIC
low complexity region	817	827	N/A	INTRINSIC
low complexity region	1041	1061	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110167

SMART Domains

Protein: ENSMUSP00000105796
Gene: ENSMUSG00000036199

Domain	Start	End	E-Value	Type
Pfam:GRIM-19	5	129	9.6e-53	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152456

Predicted Effect

probably damaging
Transcript: ENSMUST00000152938
AA Change: N81D

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

SMART Domains

Protein: ENSMUSP00000118931
Gene: ENSMUSG00000048967
AA Change: N81D

Domain	Start	End	E-Value	Type
low complexity region	1	12	N/A	INTRINSIC
Pfam:YjeF_N	17	187	5.1e-31	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000180068
AA Change: N28D

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

SMART Domains

Protein: ENSMUSP00000136145
Gene: ENSMUSG00000048967
AA Change: N28D

Domain	Start	End	E-Value	Type
Pfam:YjeF_N	2	159	8.8e-24	PFAM

Meta Mutation Damage Score

0.9511

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.2%
20x: 94.7%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	A	T	5: 88,119,792 (GRCm39)	D183V	probably damaging	Het
Ambra1	T	A	2: 91,716,064 (GRCm39)	D858E	probably damaging	Het
Amdhd2	T	C	17: 24,375,578 (GRCm39)	T370A	probably benign	Het
Amy1	A	G	3: 113,351,743 (GRCm39)	W449R	probably benign	Het
Aox3	A	T	1: 58,225,439 (GRCm39)	I1179F	probably benign	Het
Atp10a	C	A	7: 58,474,075 (GRCm39)	Q1121K	probably damaging	Het
Btaf1	C	T	19: 36,928,548 (GRCm39)	A123V	probably benign	Het
Car6	T	C	4: 150,282,598 (GRCm39)	K16E	probably benign	Het
Cgnl1	C	T	9: 71,563,378 (GRCm39)	D779N	probably benign	Het
Cyp2a4	G	A	7: 26,007,962 (GRCm39)	R123Q	possibly damaging	Het
D430041D05Rik	C	T	2: 103,987,161 (GRCm39)	R1895Q	probably damaging	Het
D5Ertd579e	T	A	5: 36,773,550 (GRCm39)	T282S	probably benign	Het
Dsel	T	C	1: 111,787,692 (GRCm39)	T948A	probably benign	Het
Ednrb	A	T	14: 104,080,536 (GRCm39)	I126N	probably damaging	Het
Egln1	A	G	8: 125,675,045 (GRCm39)	M250T	probably benign	Het
Epb41l3	A	T	17: 69,560,463 (GRCm39)	I337L	possibly damaging	Het
Epg5	T	C	18: 77,991,960 (GRCm39)	I219T	probably benign	Het
Gm13030	T	C	4: 138,600,730 (GRCm39)		probably benign	Het
Gm1527	T	A	3: 28,980,810 (GRCm39)	C637S	probably benign	Het
H1f1	A	G	13: 23,947,932 (GRCm39)	N78S	possibly damaging	Het
Insrr	T	C	3: 87,721,598 (GRCm39)	I1168T	possibly damaging	Het
Ireb2	T	C	9: 54,803,836 (GRCm39)	V509A	possibly damaging	Het
Kmt2c	T	C	5: 25,559,715 (GRCm39)	D981G	probably damaging	Het
Ktn1	A	G	14: 47,963,417 (GRCm39)	E1164G	probably damaging	Het
L3hypdh	A	T	12: 72,126,301 (GRCm39)	V213E	probably damaging	Het
Masp1	T	G	16: 23,310,709 (GRCm39)	D241A	probably damaging	Het
Mfsd13b	A	G	7: 120,591,047 (GRCm39)	I1V	probably null	Het
Muc5b	T	C	7: 141,423,491 (GRCm39)	V4531A	probably benign	Het
Myh2	A	T	11: 67,065,767 (GRCm39)		probably null	Het
Naip5	A	G	13: 100,358,041 (GRCm39)	L1065P	probably damaging	Het
Necab1	T	C	4: 15,140,219 (GRCm39)		probably benign	Het
Nemf	A	G	12: 69,400,560 (GRCm39)		probably benign	Het
Nfil3	A	T	13: 53,122,069 (GRCm39)	D278E	possibly damaging	Het
Nup98	T	C	7: 101,829,631 (GRCm39)	N393S	probably damaging	Het
Ogdh	T	A	11: 6,299,393 (GRCm39)	M753K	probably benign	Het
Or13c3	T	C	4: 52,855,568 (GRCm39)	Y315C	probably benign	Het
Or2b6	A	T	13: 21,823,606 (GRCm39)	V29E	probably damaging	Het
Or4k47	C	T	2: 111,452,084 (GRCm39)	V112M	probably benign	Het
Or51f5	T	C	7: 102,424,450 (GRCm39)	F240L	probably benign	Het
Or8b42	T	A	9: 38,342,378 (GRCm39)	S267T	probably benign	Het
Pkd2	A	G	5: 104,624,989 (GRCm39)	K262E	probably benign	Het
Plce1	C	T	19: 38,715,457 (GRCm39)		probably benign	Het
Ppm1f	T	A	16: 16,741,744 (GRCm39)	M406K	possibly damaging	Het
Ptgs1	C	T	2: 36,132,859 (GRCm39)	Q286*	probably null	Het
Scube2	T	C	7: 109,407,712 (GRCm39)	T743A	possibly damaging	Het
Tipin	T	A	9: 64,197,658 (GRCm39)	L69*	probably null	Het
Tlk1	T	A	2: 70,568,789 (GRCm39)	K404N	probably damaging	Het
Tmem59	C	A	4: 107,035,971 (GRCm39)	L16I	probably damaging	Het
Utrn	T	C	10: 12,612,826 (GRCm39)	E426G	probably benign	Het
Xdh	A	T	17: 74,216,320 (GRCm39)	S709T	probably damaging	Het
Zfp598	A	C	17: 24,898,641 (GRCm39)	D480A	probably damaging	Het

Other mutations in Yjefn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03065:Yjefn3	APN	8	70,342,206 (GRCm39)	splice site	probably benign
R1519:Yjefn3	UTSW	8	70,341,729 (GRCm39)	missense	probably benign	0.00
R1992:Yjefn3	UTSW	8	70,341,645 (GRCm39)	critical splice donor site	probably null
R2252:Yjefn3	UTSW	8	70,342,095 (GRCm39)	missense	probably damaging	1.00
R4213:Yjefn3	UTSW	8	70,343,540 (GRCm39)	missense	probably benign	0.15
R5776:Yjefn3	UTSW	8	70,342,121 (GRCm39)	missense	probably damaging	1.00
R7644:Yjefn3	UTSW	8	70,340,544 (GRCm39)	missense	probably damaging	0.99
R8350:Yjefn3	UTSW	8	70,341,869 (GRCm39)	missense	probably damaging	1.00
R9520:Yjefn3	UTSW	8	70,341,969 (GRCm39)	missense	probably damaging	0.99
R9530:Yjefn3	UTSW	8	70,340,633 (GRCm39)	missense	probably benign	0.02
Z1176:Yjefn3	UTSW	8	70,341,769 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGATGCTGGGCTGGTATTCC -3'
(R):5'- AGTAAACAAACCGCACTGGG -3'

Sequencing Primer
(F):5'- ATTCCTGGGAGGCAGGG -3'
(R):5'- CGGGTTCACATTCTGCCTGAG -3'

Posted On

2014-09-17