Mutagenetix > Incidental Mutation

Incidental Mutation 'R4213:Yjefn3'

319302

Institutional Source

Beutler Lab

Gene Symbol

Yjefn3

Ensembl Gene

ENSMUSG00000048967

Gene Name

YjeF N-terminal domain containing 3

Synonyms

LOC234365

MMRRC Submission

041040-MU

Accession Numbers

Essential gene?

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

Stock #

R4213 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70340438-70346633 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 70343540 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 50 (H50Q)

Ref Sequence

ENSEMBL: ENSMUSP00000118931 (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 benign
Transcript: ENSMUST00000152938
AA Change: H50Q

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000118931
Gene: ENSMUSG00000048967
AA Change: H50Q

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 benign
Transcript: ENSMUST00000180068

SMART Domains

Protein: ENSMUSP00000136145
Gene: ENSMUSG00000048967

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.6%

Validation Efficiency

97% (38/39)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd11	A	C	8: 123,617,765 (GRCm39)	V2029G	probably benign	Het
Arhgap28	A	T	17: 68,178,988 (GRCm39)	V291E	probably benign	Het
Cad	G	A	5: 31,229,688 (GRCm39)	V1390I	probably benign	Het
Cadps2	A	T	6: 23,599,462 (GRCm39)	D281E	probably damaging	Het
Celsr1	G	A	15: 85,916,008 (GRCm39)	T655I	probably damaging	Het
Cep350	C	G	1: 155,811,707 (GRCm39)	G411A	probably damaging	Het
Chml	A	T	1: 175,514,261 (GRCm39)	F210L	probably damaging	Het
Col4a4	A	T	1: 82,430,865 (GRCm39)	M1679K	unknown	Het
Ct45a	C	T	X: 55,590,568 (GRCm39)	V78I	probably benign	Het
Depdc1b	T	G	13: 108,525,225 (GRCm39)	F527V	probably damaging	Het
Dipk1b	C	T	2: 26,525,960 (GRCm39)	T298I	probably benign	Het
Dsg2	T	C	18: 20,731,571 (GRCm39)	L731P	probably benign	Het
Fbxo25	A	G	8: 13,989,581 (GRCm39)	T343A	probably damaging	Het
Gk5	T	C	9: 96,011,106 (GRCm39)	L72P	probably damaging	Het
Gpr137c	G	A	14: 45,483,965 (GRCm39)	E231K	probably damaging	Het
Hdc	C	T	2: 126,439,786 (GRCm39)		probably null	Het
Hydin	A	G	8: 111,183,139 (GRCm39)	N1112S	possibly damaging	Het
Itgae	A	G	11: 73,010,178 (GRCm39)	H556R	probably benign	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Kplce	G	A	3: 92,776,434 (GRCm39)	P83L	probably benign	Het
Krtap17-1	A	G	11: 99,884,740 (GRCm39)	L9P	unknown	Het
Nmur1	T	G	1: 86,315,506 (GRCm39)	T87P	probably damaging	Het
Or5d16	T	C	2: 87,773,465 (GRCm39)	Y169C	probably benign	Het
Pira13	C	A	7: 3,824,553 (GRCm39)	A510S	probably damaging	Het
Ppp2r5e	A	G	12: 75,516,325 (GRCm39)	I244T	probably damaging	Het
Robo3	C	T	9: 37,333,194 (GRCm39)	G781D	probably damaging	Het
Siglec1	C	T	2: 130,916,038 (GRCm39)	E1275K	probably damaging	Het
Slc2a12	A	T	10: 22,577,993 (GRCm39)	K596N	probably benign	Het
Sorcs1	G	A	19: 50,213,613 (GRCm39)	R705C	probably damaging	Het
Sqor	G	T	2: 122,629,418 (GRCm39)	G92V	probably damaging	Het
Tlr4	T	A	4: 66,758,563 (GRCm39)	I452N	probably damaging	Het
Tob1	A	G	11: 94,105,018 (GRCm39)	T185A	probably damaging	Het
Zswim1	T	C	2: 164,667,705 (GRCm39)	V319A	probably benign	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
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'- CACCTTGAAAGCTTCAGCCC -3'
(R):5'- CATGCTTGTGGGATGGGAAAAC -3'

Sequencing Primer
(F):5'- TTCAGCCCCACCCTGAAGG -3'
(R):5'- ACTGGAACGCCTCTTGGGTAAC -3'

Posted On

2015-06-10