Mutagenetix > Incidental Mutation

Incidental Mutation 'R5922:Herpud2'

461634

Institutional Source

Beutler Lab

Gene Symbol

Herpud2

Ensembl Gene

ENSMUSG00000008429

Gene Name

HERPUD family member 2

Synonyms

5031400M07Rik

MMRRC Submission

043240-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.168) question?

Stock #

R5922 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25019428-25063116 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 25020280 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 359 (L359F)

Ref Sequence

ENSEMBL: ENSMUSP00000008573 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008573]

AlphaFold

Q9JJC9

Predicted Effect

probably benign
Transcript: ENSMUST00000008573
AA Change: L359F

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000008573
Gene: ENSMUSG00000008429
AA Change: L359F

Domain	Start	End	E-Value	Type
UBQ	10	87	7.34e-3	SMART
low complexity region	88	98	N/A	INTRINSIC
low complexity region	109	126	N/A	INTRINSIC
low complexity region	194	226	N/A	INTRINSIC
transmembrane domain	291	313	N/A	INTRINSIC
low complexity region	346	374	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.4%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl7a	G	T	4: 56,743,827 (GRCm39)	R118L	probably damaging	Het
Atr	A	G	9: 95,785,735 (GRCm39)	D1429G	probably benign	Het
Brinp2	A	T	1: 158,076,925 (GRCm39)	V390D	possibly damaging	Het
Cpn1	T	C	19: 43,974,532 (GRCm39)	S66G	probably damaging	Het
Dnal1	C	A	12: 84,173,746 (GRCm39)	L55M	probably damaging	Het
Dus2	G	A	8: 106,780,037 (GRCm39)	R453Q	possibly damaging	Het
Efcab5	T	C	11: 77,079,570 (GRCm39)	T59A	probably benign	Het
Elmo1	A	G	13: 20,789,339 (GRCm39)	D685G	probably damaging	Het
Ern1	T	C	11: 106,312,556 (GRCm39)	E275G	probably damaging	Het
Etnk2	A	G	1: 133,291,623 (GRCm39)		probably null	Het
Fign	T	C	2: 63,809,404 (GRCm39)	D622G	probably damaging	Het
Gjb2	A	G	14: 57,337,755 (GRCm39)	M151T	probably benign	Het
Heatr9	C	T	11: 83,403,193 (GRCm39)		probably null	Het
Hpx	C	T	7: 105,244,831 (GRCm39)	R118H	probably damaging	Het
Hyal2	A	G	9: 107,448,106 (GRCm39)	Y253C	probably damaging	Het
Igkv14-130	T	C	6: 67,768,206 (GRCm39)	C22R	probably damaging	Het
Ms4a6b	T	A	19: 11,497,743 (GRCm39)	I14N	possibly damaging	Het
Myb	T	A	10: 21,028,826 (GRCm39)	I91F	probably damaging	Het
Myh6	C	T	14: 55,183,931 (GRCm39)	D1668N	probably damaging	Het
Noc2l	C	T	4: 156,325,770 (GRCm39)	Q182*	probably null	Het
Nsd1	A	G	13: 55,395,288 (GRCm39)	N1066S	probably benign	Het
Nup98	A	G	7: 101,803,224 (GRCm39)	Y659H	probably damaging	Het
Nutm1	T	C	2: 112,079,659 (GRCm39)	E752G	possibly damaging	Het
Paqr6	G	T	3: 88,273,544 (GRCm39)	A154S	probably benign	Het
Pdlim7	G	T	13: 55,656,768 (GRCm39)	T62K	probably damaging	Het
Pibf1	A	G	14: 99,374,524 (GRCm39)	D321G	probably benign	Het
Plrg1	T	A	3: 82,964,155 (GRCm39)	N29K	possibly damaging	Het
Scimp	A	C	11: 70,691,642 (GRCm39)		probably null	Het
Sec16a	T	C	2: 26,305,651 (GRCm39)	N2251S	probably benign	Het
Sec61a2	A	T	2: 5,879,134 (GRCm39)	D291E	possibly damaging	Het
Serpina3i	A	G	12: 104,232,766 (GRCm39)	K224E	probably benign	Het
Spz1	A	T	13: 92,712,106 (GRCm39)	D123E	possibly damaging	Het
St14	A	T	9: 31,041,200 (GRCm39)		probably benign	Het
Ush1c	A	T	7: 45,853,552 (GRCm39)		probably null	Het
Usp54	T	C	14: 20,602,139 (GRCm39)		probably null	Het
Zfhx3	C	T	8: 109,673,330 (GRCm39)	T1460M	probably damaging	Het
Zfp712	G	T	13: 67,189,668 (GRCm39)	N286K	probably benign	Het

Other mutations in Herpud2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01310:Herpud2	APN	9	25,062,247 (GRCm39)	missense	probably benign	0.00
IGL01325:Herpud2	APN	9	25,025,207 (GRCm39)	missense	probably benign
R1793:Herpud2	UTSW	9	25,021,953 (GRCm39)	missense	possibly damaging	0.95
R3822:Herpud2	UTSW	9	25,036,220 (GRCm39)	nonsense	probably null
R3976:Herpud2	UTSW	9	25,021,734 (GRCm39)	missense	probably damaging	1.00
R4886:Herpud2	UTSW	9	25,036,285 (GRCm39)	missense	probably benign	0.05
R5291:Herpud2	UTSW	9	25,036,256 (GRCm39)	missense	probably benign
R6062:Herpud2	UTSW	9	25,020,284 (GRCm39)	missense	probably damaging	0.96
R6200:Herpud2	UTSW	9	25,062,130 (GRCm39)	missense	probably damaging	1.00
R7529:Herpud2	UTSW	9	25,020,193 (GRCm39)	missense	probably damaging	0.99
R7649:Herpud2	UTSW	9	25,021,902 (GRCm39)	missense	possibly damaging	0.90
R9330:Herpud2	UTSW	9	25,036,246 (GRCm39)	missense	probably damaging	1.00
R9539:Herpud2	UTSW	9	25,041,936 (GRCm39)	missense	probably damaging	0.96
X0063:Herpud2	UTSW	9	25,062,165 (GRCm39)	missense	probably damaging	0.98
Z1176:Herpud2	UTSW	9	25,041,918 (GRCm39)	missense	not run
Z1177:Herpud2	UTSW	9	25,041,918 (GRCm39)	missense	not run

Predicted Primers

PCR Primer
(F):5'- AAACCCTCCTTTGCAGCTGG -3'
(R):5'- CTGTGGTAAAATGTATGATACTGGC -3'

Sequencing Primer
(F):5'- AGCTGAAGCCATTAACCC -3'
(R):5'- ACTGGCAGTTATTTGCACACTG -3'

Posted On

2017-02-28