Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01738:Ighv1-69'

105750

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ighv1-69

Ensembl Gene

ENSMUSG00000094502

Gene Name

immunoglobulin heavy variable 1-69

Synonyms

Gm16708

Accession Numbers

Essential gene?

Probably essential (E-score: 0.861) question?

Stock #

IGL01738

Quality Score

Status

Chromosome

Chromosomal Location

115586823-115587215 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115587061 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 24 (Q24R)

Ref Sequence

ENSEMBL: ENSMUSP00000143287 (fasta)

Gene Model

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

AlphaFold

A0A075B5X7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103539
AA Change: Q23R

PolyPhen 2 Score 0.709 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000100320
Gene: ENSMUSG00000094502
AA Change: Q23R

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000199933
AA Change: Q24R

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000143287
Gene: ENSMUSG00000094502
AA Change: Q24R

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	A	T	8: 106,436,668 (GRCm39)	D288V	probably damaging	Het
Agtr1a	G	A	13: 30,565,021 (GRCm39)	V29I	probably benign	Het
Akap6	G	T	12: 52,933,600 (GRCm39)	C364F	probably damaging	Het
Calcrl	T	G	2: 84,200,793 (GRCm39)	M84L	probably benign	Het
Cep128	C	A	12: 91,197,616 (GRCm39)	G402C	probably damaging	Het
Cfap43	A	G	19: 47,785,624 (GRCm39)	L422P	probably damaging	Het
Cnbd2	C	A	2: 156,217,537 (GRCm39)		probably benign	Het
Col27a1	A	G	4: 63,182,016 (GRCm39)		probably benign	Het
Cyp3a44	A	G	5: 145,731,745 (GRCm39)	S134P	probably damaging	Het
Dync2h1	A	C	9: 7,114,922 (GRCm39)	L179R	possibly damaging	Het
Ell	T	A	8: 71,034,331 (GRCm39)		probably benign	Het
Gfm1	A	G	3: 67,363,994 (GRCm39)	E490G	probably benign	Het
Glt1d1	T	G	5: 127,709,419 (GRCm39)		probably benign	Het
Gm10267	A	T	18: 44,292,342 (GRCm39)	I10K	possibly damaging	Het
Htra4	A	G	8: 25,515,727 (GRCm39)	V437A	probably damaging	Het
Igkv14-111	G	A	6: 68,233,443 (GRCm39)		probably benign	Het
Ipcef1	A	T	10: 6,840,575 (GRCm39)	I374N	probably damaging	Het
Iqgap1	T	C	7: 80,373,648 (GRCm39)	D1447G	possibly damaging	Het
Mast4	A	G	13: 102,873,749 (GRCm39)	F1681S	probably damaging	Het
Mmp3	A	T	9: 7,446,946 (GRCm39)	N42I	possibly damaging	Het
Mybpc1	G	T	10: 88,406,507 (GRCm39)	F126L	probably damaging	Het
Myo1e	A	G	9: 70,266,652 (GRCm39)	K631E	probably damaging	Het
Or8b43	A	C	9: 38,360,942 (GRCm39)	Y258S	probably damaging	Het
Pcsk5	T	A	19: 17,411,144 (GRCm39)		probably benign	Het
Serpina3b	T	G	12: 104,097,091 (GRCm39)	L124R	probably damaging	Het
Srgap2	T	C	1: 131,224,164 (GRCm39)	I95V	probably benign	Het
Sstr5	A	T	17: 25,710,584 (GRCm39)	I215N	probably damaging	Het
Top3b	G	A	16: 16,698,468 (GRCm39)	V104M	probably benign	Het
Tspan8	G	A	10: 115,653,570 (GRCm39)		probably null	Het
Vmn2r102	A	G	17: 19,898,020 (GRCm39)	Y345C	probably damaging	Het
Vmn2r17	G	A	5: 109,577,364 (GRCm39)	G472S	probably damaging	Het
Zmpste24	A	T	4: 120,918,308 (GRCm39)	L438Q	probably damaging	Het

Other mutations in Ighv1-69

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0567:Ighv1-69	UTSW	12	115,587,169 (GRCm39)	critical splice donor site	probably benign
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

Posted On

2014-01-21