Mutagenetix > Incidental Mutation

Incidental Mutation 'R5522:Ighv1-66'

431632

Institutional Source

Beutler Lab

Gene Symbol

Ighv1-66

Ensembl Gene

ENSMUSG00000095519

Gene Name

immunoglobulin heavy variable 1-66

Synonyms

Gm16901

MMRRC Submission

043081-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.165) question?

Stock #

R5522 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

115556730-115557023 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 115556755 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 109 (D109V)

Ref Sequence

ENSEMBL: ENSMUSP00000100318 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103537]

AlphaFold

A0A075B5X5

Predicted Effect

probably damaging
Transcript: ENSMUST00000103537
AA Change: D109V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000100318
Gene: ENSMUSG00000095519
AA Change: D109V

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGv	36	117	2.17e-31	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200554

Coding Region Coverage

1x: 99.0%
3x: 97.4%
10x: 93.9%
20x: 85.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl1	T	C	8: 84,649,704 (GRCm39)	Y121H	possibly damaging	Het
Agbl5	G	A	5: 31,051,247 (GRCm39)		probably null	Het
Atp13a2	T	A	4: 140,731,671 (GRCm39)		probably null	Het
Cd69	A	T	6: 129,248,379 (GRCm39)	S36T	probably damaging	Het
Ceacam5	A	T	7: 17,449,005 (GRCm39)	I124L	probably benign	Het
Cerkl	T	C	2: 79,223,328 (GRCm39)	H131R	probably benign	Het
Cfap57	A	T	4: 118,453,085 (GRCm39)	N539K	probably benign	Het
Cyp4x1	C	A	4: 114,979,174 (GRCm39)	W141L	probably damaging	Het
Dlgap1	T	C	17: 70,823,993 (GRCm39)		probably null	Het
Dnaaf9	G	A	2: 130,656,222 (GRCm39)		probably benign	Het
Dst	T	C	1: 34,296,954 (GRCm39)	I5781T	possibly damaging	Het
Epha2	T	A	4: 141,035,867 (GRCm39)	V101E	probably damaging	Het
Exph5	T	C	9: 53,285,613 (GRCm39)	F898S	possibly damaging	Het
Fyco1	G	A	9: 123,623,836 (GRCm39)	R1398*	probably null	Het
Gemin6	T	G	17: 80,535,178 (GRCm39)	V46G	probably damaging	Het
Grb10	T	C	11: 11,886,746 (GRCm39)	I508V	probably benign	Het
Igf1r	C	A	7: 67,833,258 (GRCm39)	Q473K	probably damaging	Het
Ipmk	C	A	10: 71,199,304 (GRCm39)	T55K	probably benign	Het
Kdm2b	A	G	5: 123,087,225 (GRCm39)	Y192H	probably damaging	Het
Krt32	A	T	11: 99,977,497 (GRCm39)		probably null	Het
Kti12	T	A	4: 108,705,620 (GRCm39)	L178Q	possibly damaging	Het
Mchr1	A	T	15: 81,122,211 (GRCm39)	K320N	possibly damaging	Het
Mdn1	T	C	4: 32,685,783 (GRCm39)	L858S	probably damaging	Het
Myo3a	T	A	2: 22,464,353 (GRCm39)	F198Y	probably damaging	Het
Ncam2	C	T	16: 81,231,766 (GRCm39)	R77*	probably null	Het
Nfatc1	T	C	18: 80,696,744 (GRCm39)	T647A	probably benign	Het
Nuf2	A	G	1: 169,326,453 (GRCm39)	Y433H	probably damaging	Het
Nup210l	T	C	3: 90,061,972 (GRCm39)	V717A	probably benign	Het
Or3a1b	A	G	11: 74,012,484 (GRCm39)	Y123C	probably damaging	Het
Or5h17	A	T	16: 58,820,268 (GRCm39)	L73F	probably benign	Het
Or6c35	A	T	10: 129,168,798 (GRCm39)	D16V	probably damaging	Het
Pbrm1	A	G	14: 30,811,520 (GRCm39)	Y1210C	probably damaging	Het
Pcdhb6	A	G	18: 37,467,402 (GRCm39)	I108V	probably benign	Het
Plac8	T	A	5: 100,710,584 (GRCm39)	T6S	probably benign	Het
Plbd1	A	T	6: 136,594,298 (GRCm39)	V317E	probably benign	Het
Rars1	A	T	11: 35,708,195 (GRCm39)	Y406*	probably null	Het
Scamp3	T	C	3: 89,084,929 (GRCm39)	F11L	possibly damaging	Het
Sctr	A	G	1: 119,964,146 (GRCm39)	N142S	probably benign	Het
Sh2d4a	T	C	8: 68,749,349 (GRCm39)	S128P	probably benign	Het
Snrnp70	C	T	7: 45,026,601 (GRCm39)		probably benign	Het
Taf3	T	C	2: 9,945,816 (GRCm39)	K596R	probably damaging	Het
Tango6	T	C	8: 107,422,230 (GRCm39)		probably null	Het
Taok3	A	G	5: 117,411,822 (GRCm39)	T414A	probably benign	Het
Tmem104	G	A	11: 115,079,149 (GRCm39)		probably null	Het
Tmem231	T	A	8: 112,645,042 (GRCm39)	S155C	possibly damaging	Het
Tssk3	G	A	4: 129,383,343 (GRCm39)	R110W	possibly damaging	Het
Ugt2b37	T	C	5: 87,388,759 (GRCm39)	T485A	probably benign	Het
Unc5b	T	C	10: 60,613,974 (GRCm39)	K292E	possibly damaging	Het
Upf3a	T	A	8: 13,845,497 (GRCm39)		probably null	Het
Usp24	T	A	4: 106,229,918 (GRCm39)	V797E	probably damaging	Het
Vcan	T	C	13: 89,839,929 (GRCm39)	T1872A	possibly damaging	Het
Vmn1r195	A	G	13: 22,463,120 (GRCm39)	M197V	probably damaging	Het
Vmn2r40	T	A	7: 8,911,203 (GRCm39)	T697S	probably benign	Het
Xab2	A	T	8: 3,661,718 (GRCm39)	D578E	probably benign	Het
Xpo7	A	T	14: 70,909,090 (GRCm39)	Y810*	probably null	Het
Zcchc2	A	G	1: 105,951,426 (GRCm39)	N587S	probably benign	Het
Zfp189	C	T	4: 49,529,739 (GRCm39)	R281*	probably null	Het
Zranb1	T	C	7: 132,585,678 (GRCm39)	*735R	probably null	Het

Other mutations in Ighv1-66

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01414:Ighv1-66	APN	12	115,556,929 (GRCm39)	missense	probably benign	0.26
R4424:Ighv1-66	UTSW	12	115,557,157 (GRCm39)	missense	probably damaging	0.97
R4584:Ighv1-66	UTSW	12	115,557,016 (GRCm39)	missense	possibly damaging	0.93
R4691:Ighv1-66	UTSW	12	115,556,929 (GRCm39)	missense	probably benign	0.26
R6514:Ighv1-66	UTSW	12	115,556,740 (GRCm39)	missense	possibly damaging	0.60
R7030:Ighv1-66	UTSW	12	115,557,157 (GRCm39)	missense	probably damaging	0.97
R8480:Ighv1-66	UTSW	12	115,557,002 (GRCm39)	missense	possibly damaging	0.74
R8887:Ighv1-66	UTSW	12	115,557,032 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAAAGGCACTATAGGACTCTGAG -3'
(R):5'- AGATATCCTGCAAGGCTTCTGG -3'

Sequencing Primer
(F):5'- CACTATAGGACTCTGAGGAGGAG -3'
(R):5'- TCTGGCTACAGCTTCACAAG -3'

Posted On

2016-10-05