Mutagenetix > Incidental Mutation

Incidental Mutation 'R0567:Ighv1-69'

46229

Institutional Source

Beutler Lab

Gene Symbol

Ighv1-69

Ensembl Gene

ENSMUSG00000094502

Gene Name

immunoglobulin heavy variable 1-69

Synonyms

Gm16708

MMRRC Submission

038758-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.861) question?

Stock #

R0567 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

115586823-115587215 bp(-) (GRCm39)

Type of Mutation

critical splice donor site

DNA Base Change (assembly)

C to T at 115587169 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143287 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103539] [ENSMUST00000199933]

AlphaFold

A0A075B5X7

Predicted Effect

probably benign
Transcript: ENSMUST00000103539

SMART Domains

Protein: ENSMUSP00000100320
Gene: ENSMUSG00000094502

Domain	Start	End	E-Value	Type
IGv	35	116	1.23e-30	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000199933

SMART Domains

Protein: ENSMUSP00000143287
Gene: ENSMUSG00000094502

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGv	36	117	4.9e-33	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	A	G	4: 86,146,253 (GRCm39)	E303G	probably damaging	Het
Akr1b1	A	T	6: 34,281,280 (GRCm39)		probably null	Het
Alox8	A	T	11: 69,082,348 (GRCm39)		probably null	Het
Apcdd1	G	A	18: 63,067,107 (GRCm39)	E74K	possibly damaging	Het
Atr	T	C	9: 95,747,882 (GRCm39)	V388A	probably benign	Het
AW554918	G	A	18: 25,533,092 (GRCm39)	E452K	possibly damaging	Het
C1galt1	A	G	6: 7,866,874 (GRCm39)	D240G	probably damaging	Het
Ceacam10	T	A	7: 24,477,834 (GRCm39)	D116E	probably damaging	Het
Col15a1	G	T	4: 47,293,231 (GRCm39)	V912L	possibly damaging	Het
Cyp3a11	G	A	5: 145,805,959 (GRCm39)	T136I	probably damaging	Het
Denr	C	T	5: 124,046,221 (GRCm39)	T17M	probably benign	Het
Doc2b	A	G	11: 75,670,950 (GRCm39)	F227S	probably damaging	Het
Dsp	A	T	13: 38,376,414 (GRCm39)	T1400S	probably benign	Het
Egfr	A	T	11: 16,822,873 (GRCm39)	D412V	probably benign	Het
Fryl	C	T	5: 73,222,734 (GRCm39)	G1949D	possibly damaging	Het
Gstp3	A	T	19: 4,107,636 (GRCm39)	L176Q	possibly damaging	Het
H2ac12	T	C	13: 22,219,734 (GRCm39)		probably benign	Het
Heatr5a	T	A	12: 51,956,872 (GRCm39)	N1075I	probably damaging	Het
Lama3	A	G	18: 12,682,309 (GRCm39)	I1092V	probably benign	Het
Lipg	A	T	18: 75,090,440 (GRCm39)	H36Q	probably benign	Het
Myh7b	T	C	2: 155,468,318 (GRCm39)	W836R	probably damaging	Het
Oit3	A	T	10: 59,271,800 (GRCm39)	C186S	probably damaging	Het
Or4m1	A	T	14: 50,558,115 (GRCm39)	M59K	probably damaging	Het
P2ry2	T	C	7: 100,647,748 (GRCm39)	T186A	probably damaging	Het
Pyroxd2	T	C	19: 42,724,364 (GRCm39)	T300A	probably benign	Het
Rab26	C	A	17: 24,748,556 (GRCm39)	V283F	probably damaging	Het
Rad50	C	T	11: 53,545,783 (GRCm39)	R1180Q	probably damaging	Het
Rbpms2	ACTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	9: 65,558,948 (GRCm39)		probably benign	Het
Shroom3	A	G	5: 93,112,312 (GRCm39)	D1891G	possibly damaging	Het
Syne2	G	A	12: 75,937,004 (GRCm39)	E201K	probably damaging	Het
Taf6	A	T	5: 138,181,988 (GRCm39)		probably null	Het
Tbc1d32	A	T	10: 56,050,059 (GRCm39)	M493K	possibly damaging	Het
Uaca	A	G	9: 60,778,663 (GRCm39)	T1017A	probably benign	Het
Usp17le	C	T	7: 104,418,105 (GRCm39)	V346I	possibly damaging	Het
Vmn1r71	T	C	7: 10,482,556 (GRCm39)	D44G	probably damaging	Het
Vmn2r80	A	G	10: 79,030,665 (GRCm39)	I830M	possibly damaging	Het
Yju2b	A	G	8: 84,987,294 (GRCm39)	L93P	probably damaging	Het
Zfp994	T	C	17: 22,419,449 (GRCm39)	Y500C	possibly damaging	Het
Zscan20	A	G	4: 128,483,243 (GRCm39)		probably null	Het

Other mutations in Ighv1-69

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01738:Ighv1-69	APN	12	115,587,061 (GRCm39)	missense	possibly damaging	0.91
R4755:Ighv1-69	UTSW	12	115,587,178 (GRCm39)	missense	probably benign	0.01
R7022:Ighv1-69	UTSW	12	115,586,834 (GRCm39)	missense	probably benign	0.04
R7042:Ighv1-69	UTSW	12	115,586,909 (GRCm39)	missense	probably benign	0.00
R7675:Ighv1-69	UTSW	12	115,587,209 (GRCm39)	missense	probably damaging	1.00
R9546:Ighv1-69	UTSW	12	115,586,885 (GRCm39)	missense	possibly damaging	0.79
R9547:Ighv1-69	UTSW	12	115,586,885 (GRCm39)	missense	possibly damaging	0.79
R9695:Ighv1-69	UTSW	12	115,586,987 (GRCm39)	missense	probably benign	0.07
Z1088:Ighv1-69	UTSW	12	115,586,873 (GRCm39)	missense	probably benign
Z1176:Ighv1-69	UTSW	12	115,586,873 (GRCm39)	missense	probably benign
Z1177:Ighv1-69	UTSW	12	115,586,873 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGCTTCACCCAGTGCATCCAGTAG -3'
(R):5'- ACAATGACTTGTGCCTCAGCATCC -3'

Sequencing Primer
(F):5'- TGCATCCAGTAGCTGGTGAAG -3'
(R):5'- CTTCTTCTCCAGCAGGAGTAGG -3'

Posted On

2013-06-11