Mutagenetix > Incidental Mutation

Incidental Mutation 'R5776:Yjefn3'

446705

Institutional Source

Beutler Lab

Gene Symbol

Yjefn3

Ensembl Gene

ENSMUSG00000048967

Gene Name

YjeF N-terminal domain containing 3

Synonyms

LOC234365

MMRRC Submission

043375-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.235) question?

Stock #

R5776 (G1)

Quality Score

182

Status

Validated

Chromosome

Chromosomal Location

70340438-70346633 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 70342121 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 33 (L33Q)

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: L86Q

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

SMART Domains

Protein: ENSMUSP00000118931
Gene: ENSMUSG00000048967
AA Change: L86Q

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: L33Q

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

SMART Domains

Protein: ENSMUSP00000136145
Gene: ENSMUSG00000048967
AA Change: L33Q

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

Meta Mutation Damage Score

0.9375

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.7%
20x: 96.3%

Validation Efficiency

98% (64/65)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	T	6: 23,107,649 (GRCm39)	M378K	possibly damaging	Het
Abca17	A	G	17: 24,514,132 (GRCm39)	V857A	probably benign	Het
Abca9	C	T	11: 109,998,286 (GRCm39)		probably null	Het
Adam22	T	C	5: 8,177,361 (GRCm39)	K583E	probably benign	Het
Akr1c13	T	C	13: 4,244,186 (GRCm39)	F80L	probably damaging	Het
Apob	A	T	12: 8,056,149 (GRCm39)	I1511F	possibly damaging	Het
Ccdc168	T	C	1: 44,095,665 (GRCm39)	E1811G	possibly damaging	Het
Cfh	C	A	1: 140,071,761 (GRCm39)	R291I	possibly damaging	Het
Col1a1	C	T	11: 94,840,550 (GRCm39)	S1114F	unknown	Het
Ctsj	T	C	13: 61,150,956 (GRCm39)	D168G	probably damaging	Het
Erf	T	C	7: 24,945,534 (GRCm39)	D79G	probably damaging	Het
Extl1	T	C	4: 134,085,083 (GRCm39)	N629S	possibly damaging	Het
Fbxo9	T	C	9: 78,002,469 (GRCm39)	E204G	probably damaging	Het
Fdx2	C	A	9: 20,984,778 (GRCm39)	V9L	possibly damaging	Het
Gfer	G	T	17: 24,915,027 (GRCm39)	S5R	probably benign	Het
Gm15931	A	T	7: 4,284,564 (GRCm39)		noncoding transcript	Het
Gm6309	T	A	5: 146,105,691 (GRCm39)	I158F	possibly damaging	Het
Gm7247	C	T	14: 51,601,805 (GRCm39)	S26F	probably benign	Het
Hacl1	A	T	14: 31,344,828 (GRCm39)	N234K	possibly damaging	Het
Hcn3	C	T	3: 89,055,412 (GRCm39)	A612T	probably benign	Het
Hectd1	T	A	12: 51,810,897 (GRCm39)	E1679D	possibly damaging	Het
Hipk4	T	C	7: 27,228,405 (GRCm39)	L285P	probably damaging	Het
Igsf3	G	A	3: 101,332,796 (GRCm39)	V25I	probably benign	Het
Jade1	A	G	3: 41,568,227 (GRCm39)	H765R	probably benign	Het
Kcnv1	T	C	15: 44,977,963 (GRCm39)	D25G	unknown	Het
Klhl3	A	G	13: 58,152,998 (GRCm39)	S586P	probably benign	Het
L3mbtl2	A	G	15: 81,569,072 (GRCm39)	D582G	probably damaging	Het
Matn2	G	A	15: 34,431,765 (GRCm39)	C835Y	probably damaging	Het
Naa15	A	C	3: 51,367,447 (GRCm39)	D490A	probably damaging	Het
Nab2	T	A	10: 127,500,198 (GRCm39)	Y298F	probably damaging	Het
Nipsnap1	T	A	11: 4,838,919 (GRCm39)	M115K	probably benign	Het
Nlrp5-ps	T	C	7: 14,326,649 (GRCm39)		noncoding transcript	Het
Nol4l	T	G	2: 153,259,741 (GRCm39)	Q211P	probably damaging	Het
Oga	T	C	19: 45,760,363 (GRCm39)	E265G	probably damaging	Het
Or52z15	T	A	7: 103,332,246 (GRCm39)	M97K	probably damaging	Het
Or6k14	A	T	1: 173,927,339 (GRCm39)	H105L	probably damaging	Het
Pkhd1	T	C	1: 20,279,409 (GRCm39)	K2970E	possibly damaging	Het
Plin4	T	C	17: 56,411,983 (GRCm39)	T683A	probably damaging	Het
Ppm1g	T	C	5: 31,362,454 (GRCm39)	D282G	probably benign	Het
Ppp6r3	A	G	19: 3,576,901 (GRCm39)	S10P	possibly damaging	Het
Raph1	G	A	1: 60,529,315 (GRCm39)		probably benign	Het
Rc3h2	A	G	2: 37,268,325 (GRCm39)	V935A	possibly damaging	Het
Reg4	T	A	3: 98,140,344 (GRCm39)	D108E	possibly damaging	Het
Saraf	T	A	8: 34,632,604 (GRCm39)	Y228N	probably damaging	Het
Sctr	T	C	1: 119,984,137 (GRCm39)	S357P	probably damaging	Het
Sec22b	A	T	3: 97,821,884 (GRCm39)	N139Y	probably damaging	Het
Sgsm1	T	A	5: 113,398,823 (GRCm39)	I1037F	probably damaging	Het
Skint5	A	C	4: 113,620,700 (GRCm39)	S671R	unknown	Het
Slc38a3	C	A	9: 107,535,948 (GRCm39)	E62*	probably null	Het
Slfn14	C	T	11: 83,174,425 (GRCm39)	E189K	probably damaging	Het
Sox21	A	G	14: 118,472,656 (GRCm39)	L131P	probably damaging	Het
Stip1	A	G	19: 6,999,393 (GRCm39)		probably null	Het
Stx16	G	A	2: 173,935,292 (GRCm39)	G156R	probably damaging	Het
Susd1	T	C	4: 59,315,363 (GRCm39)		probably benign	Het
Tdrd7	T	A	4: 46,005,689 (GRCm39)	D498E	probably benign	Het
Tln2	C	T	9: 67,165,532 (GRCm39)	E1053K	probably damaging	Het
Trav6-4	A	G	14: 53,692,211 (GRCm39)	D103G	probably damaging	Het
Txndc15	A	G	13: 55,865,920 (GRCm39)	E128G	probably benign	Het
Vmn2r22	A	T	6: 123,614,673 (GRCm39)	W306R	probably damaging	Het
Zfp641	T	C	15: 98,186,891 (GRCm39)	D244G	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
R2080:Yjefn3	UTSW	8	70,342,137 (GRCm39)	missense	probably damaging	1.00
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
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'- GTAAACAAACCGCACTGGGC -3'

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

Posted On

2016-12-15