Mutagenetix > Incidental Mutation

Incidental Mutation 'R8823:Ighv8-5'

673291

Institutional Source

Beutler Lab

Gene Symbol

Ighv8-5

Ensembl Gene

ENSMUSG00000102364

Gene Name

immunoglobulin heavy variable V8-5

Synonyms

MMRRC Submission

068656-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.167) question?

Stock #

R8823 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115031180-115031480 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 115031267 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 91 (S91P)

Ref Sequence

ENSEMBL: ENSMUSP00000142292 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000194257]

AlphaFold

A0A0A6YY60

Predicted Effect

probably damaging
Transcript: ENSMUST00000194257
AA Change: S91P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000142292
Gene: ENSMUSG00000102364
AA Change: S91P

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGv	36	118	8.6e-31	SMART

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (46/46)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam24	T	A	8: 41,133,228 (GRCm39)	I232K	probably benign	Het
Ap5z1	T	C	5: 142,460,191 (GRCm39)	L506P	probably benign	Het
Atg5lrt	A	T	10: 95,972,633 (GRCm39)	I57F	possibly damaging	Het
Ceacam20	A	T	7: 19,705,429 (GRCm39)	Y140F	probably damaging	Het
Chfr	G	A	5: 110,300,258 (GRCm39)	R334H	probably damaging	Het
Emx2	A	G	19: 59,447,880 (GRCm39)	H78R	probably damaging	Het
Etnppl	G	A	3: 130,420,195 (GRCm39)	G204R	probably damaging	Het
Fah	A	G	7: 84,254,925 (GRCm39)	F3L	possibly damaging	Het
Galnt12	G	T	4: 47,091,928 (GRCm39)		probably benign	Het
Gbx1	A	G	5: 24,710,051 (GRCm39)	S265P	probably damaging	Het
Gm17087	A	G	17: 8,785,233 (GRCm39)	*157R	probably null	Het
Grin2a	T	A	16: 9,487,758 (GRCm39)	N380I	possibly damaging	Het
Grip1	C	T	10: 119,811,856 (GRCm39)	T269I		Het
Hace1	T	C	10: 45,524,956 (GRCm39)	Y241H	probably damaging	Het
Hrc	A	G	7: 44,985,722 (GRCm39)	D291G	possibly damaging	Het
Ifi208	A	G	1: 173,511,102 (GRCm39)	Y419C	probably damaging	Het
Igkv15-103	T	C	6: 68,414,855 (GRCm39)	L98P	probably damaging	Het
Igsf5	C	T	16: 96,222,939 (GRCm39)	S61L	possibly damaging	Het
Ipo9	A	G	1: 135,347,077 (GRCm39)	W138R	probably damaging	Het
Kank4	A	T	4: 98,668,240 (GRCm39)	L69Q	probably damaging	Het
Kcnd3	T	C	3: 105,574,330 (GRCm39)	I505T	probably benign	Het
Lrtm2	T	A	6: 119,294,193 (GRCm39)	I313F	probably damaging	Het
Mug2	A	T	6: 122,040,648 (GRCm39)	I733F	possibly damaging	Het
Myh2	A	T	11: 67,076,300 (GRCm39)	R800S	probably damaging	Het
Myo1d	A	T	11: 80,492,571 (GRCm39)	I728N	possibly damaging	Het
Or10a3n	A	G	7: 108,493,155 (GRCm39)	I158T	probably benign	Het
Pdcd1	T	C	1: 93,969,220 (GRCm39)	R33G	probably benign	Het
Polr1b	T	C	2: 128,967,457 (GRCm39)	F950S	probably damaging	Het
Prpf8	T	A	11: 75,384,282 (GRCm39)	M697K	probably benign	Het
Psmc2	T	A	5: 22,005,574 (GRCm39)	D218E	probably damaging	Het
Ptpn12	A	G	5: 21,203,621 (GRCm39)	Y386H	probably damaging	Het
Rilpl2	C	T	5: 124,606,716 (GRCm39)	R166K	possibly damaging	Het
Rtn4	T	A	11: 29,656,609 (GRCm39)	N254K	probably benign	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,957,756 (GRCm39)		probably benign	Het
Sesn3	T	A	9: 14,221,536 (GRCm39)		probably benign	Het
Slc35b2	T	A	17: 45,877,894 (GRCm39)	H291Q	probably damaging	Het
Slc38a3	A	C	9: 107,533,150 (GRCm39)	Y308D	probably damaging	Het
Snrpd2	T	C	7: 18,886,535 (GRCm39)	V106A	probably benign	Het
Sybu	C	A	15: 44,540,998 (GRCm39)	A355S	possibly damaging	Het
Tes3-ps	A	T	13: 49,647,692 (GRCm39)	R189S	probably benign	Het
Trmo	T	C	4: 46,382,604 (GRCm39)	D164G	probably damaging	Het
Vmn1r225	A	G	17: 20,722,823 (GRCm39)	Q88R	probably benign	Het
Xkr9	T	C	1: 13,742,832 (GRCm39)	V39A	probably benign	Het
Xpo1	A	T	11: 23,217,752 (GRCm39)	M73L	probably benign	Het
Zbtb21	G	A	16: 97,752,516 (GRCm39)	T589I	probably damaging	Het
Zbtb41	A	G	1: 139,350,892 (GRCm39)	K2E	probably damaging	Het
Zfp105	A	G	9: 122,759,568 (GRCm39)	K413R	possibly damaging	Het

Other mutations in Ighv8-5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01150:Ighv8-5	APN	12	115,031,194 (GRCm39)	missense	probably damaging	1.00
R0039:Ighv8-5	UTSW	12	115,031,207 (GRCm39)	missense	possibly damaging	0.49
R2443:Ighv8-5	UTSW	12	115,031,440 (GRCm39)	missense	probably damaging	1.00
R4910:Ighv8-5	UTSW	12	115,031,462 (GRCm39)	missense	probably damaging	1.00
R7827:Ighv8-5	UTSW	12	115,031,258 (GRCm39)	missense	possibly damaging	0.78
R8464:Ighv8-5	UTSW	12	115,031,309 (GRCm39)	missense	probably benign	0.00
R8477:Ighv8-5	UTSW	12	115,031,200 (GRCm39)	missense	probably benign	0.02
R9655:Ighv8-5	UTSW	12	115,031,416 (GRCm39)	missense	probably damaging	0.96
R9784:Ighv8-5	UTSW	12	115,031,228 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- AGGAATGGAAAGCTGTTCACC -3'
(R):5'- ATATTGCAGCCCTCCCAGAC -3'

Sequencing Primer
(F):5'- TGGAAAGCTGTTCACCTAAGAG -3'
(R):5'- GACCCTCAGTCTGACTTGTTC -3'

Posted On

2021-07-15