Mutagenetix > Incidental Mutation

Incidental Mutation 'R3687:Ighv1-24'

473221

Institutional Source

Beutler Lab

Gene Symbol

Ighv1-24

Ensembl Gene

ENSMUSG00000094241

Gene Name

immunoglobulin heavy variable V1-24

Synonyms

immunoglobulin heavy variable V1-24, Ighv1-24

MMRRC Submission

040683-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.839) question?

Stock #

R3687 (G1)

Quality Score

168

Status

Not validated

Chromosome

Chromosomal Location

114736548-114736841 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 114736700 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 67 (I67F)

Ref Sequence

ENSEMBL: ENSMUSP00000142245 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103509] [ENSMUST00000191861]

AlphaFold

A0A075B5U9

Predicted Effect

probably damaging
Transcript: ENSMUST00000103509
AA Change: I48F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000100290
Gene: ENSMUSG00000094241
AA Change: I48F

Domain	Start	End	E-Value	Type
IGv	17	98	2.16e-17	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000191861
AA Change: I67F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000142245
Gene: ENSMUSG00000094241
AA Change: I67F

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGv	36	117	8.9e-20	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

97% (38/39)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra1	G	A	7: 139,432,506 (GRCm39)	V115M	probably damaging	Het
Atp11c	T	C	X: 59,327,004 (GRCm39)	Y431C	probably benign	Het
Atp4a	G	A	7: 30,419,650 (GRCm39)	R671Q	probably benign	Het
B230307C23Rik	T	A	16: 97,810,199 (GRCm39)	N62K	probably benign	Het
Bnip2	T	A	9: 69,906,432 (GRCm39)	Y118N	probably damaging	Het
Bptf	C	A	11: 106,965,024 (GRCm39)	R1275L	probably benign	Het
C2cd3	C	T	7: 100,085,040 (GRCm39)	P1544L	probably benign	Het
Cd44	G	A	2: 102,731,695 (GRCm39)		probably null	Het
Col10a1	A	G	10: 34,271,494 (GRCm39)	T489A	probably benign	Het
Dgkk	T	C	X: 6,804,631 (GRCm39)		probably benign	Het
Efcab6	G	A	15: 83,755,479 (GRCm39)	Q1323*	probably null	Het
Eftud2	T	C	11: 102,735,027 (GRCm39)	E624G	probably damaging	Het
Elmo3	G	A	8: 106,035,468 (GRCm39)		probably null	Het
Galnt13	A	T	2: 54,770,074 (GRCm39)	T289S	probably benign	Het
Gm16485	T	C	9: 8,972,382 (GRCm39)		probably benign	Het
Gm43302	A	T	5: 105,428,132 (GRCm39)	V143D	probably damaging	Het
Gpr18	T	C	14: 122,149,873 (GRCm39)	T51A	probably damaging	Het
Hr	T	A	14: 70,795,236 (GRCm39)	N289K	probably damaging	Het
Ksr2	A	G	5: 117,693,044 (GRCm39)	Q164R	probably damaging	Het
Myo3b	A	G	2: 70,075,658 (GRCm39)	E554G	probably benign	Het
Or10u4	A	T	10: 129,802,581 (GRCm39)		probably null	Het
Or5b99	G	A	19: 12,976,466 (GRCm39)	G39R	probably damaging	Het
Or8b101	A	G	9: 38,020,177 (GRCm39)	Y60C	probably damaging	Het
Pclo	A	G	5: 14,719,009 (GRCm39)	T1049A	unknown	Het
Pkhd1l1	T	C	15: 44,409,983 (GRCm39)	S2497P	probably benign	Het
Ppm1f	T	C	16: 16,741,747 (GRCm39)	V407A	probably damaging	Het
Ppox	A	G	1: 171,105,066 (GRCm39)	L374S	probably damaging	Het
Prkdc	T	C	16: 15,617,831 (GRCm39)	Y3221H	probably benign	Het
Ptprk	A	T	10: 28,349,039 (GRCm39)	I520F	probably damaging	Het
Pus10	T	C	11: 23,617,334 (GRCm39)	F16L	probably benign	Het
Rab36	G	A	10: 74,880,328 (GRCm39)	V63I	probably damaging	Het
Rab3d	A	T	9: 21,826,204 (GRCm39)	M101K	probably damaging	Het
Rangap1	A	T	15: 81,602,963 (GRCm39)	M154K	possibly damaging	Het
Slc25a17	A	G	15: 81,211,485 (GRCm39)	F177S	probably benign	Het
Tas2r114	T	C	6: 131,666,231 (GRCm39)	T266A	probably benign	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Trem3	T	A	17: 48,564,955 (GRCm39)	V152D	probably damaging	Het
Vmn2r4	T	A	3: 64,296,896 (GRCm39)	I630F	possibly damaging	Het
Vwa5b2	C	A	16: 20,410,308 (GRCm39)		probably benign	Het
Zfp518b	A	T	5: 38,831,455 (GRCm39)	H183Q	probably damaging	Het

Other mutations in Ighv1-24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01630:Ighv1-24	APN	12	114,736,673 (GRCm39)	missense	probably benign	0.22
PIT4581001:Ighv1-24	UTSW	12	114,736,803 (GRCm39)	missense	probably benign
R2892:Ighv1-24	UTSW	12	114,736,679 (GRCm39)	missense	probably benign	0.08
R3811:Ighv1-24	UTSW	12	114,736,685 (GRCm39)	missense	probably benign	0.33
R5071:Ighv1-24	UTSW	12	114,736,748 (GRCm39)	missense	probably benign	0.17
R6880:Ighv1-24	UTSW	12	114,736,663 (GRCm39)	missense	possibly damaging	0.85
R9052:Ighv1-24	UTSW	12	114,736,555 (GRCm39)	missense	probably damaging	1.00
R9254:Ighv1-24	UTSW	12	114,736,663 (GRCm39)	missense	possibly damaging	0.85
R9379:Ighv1-24	UTSW	12	114,736,663 (GRCm39)	missense	possibly damaging	0.85

Predicted Primers

Posted On

2017-04-14