Mutagenetix > Incidental Mutation

Incidental Mutation 'R5626:Ighv16-1'

441848

Institutional Source

Beutler Lab

Gene Symbol

Ighv16-1

Ensembl Gene

ENSMUSG00000076661

Gene Name

immunoglobulin heavy variable 16-1

Synonyms

Gm7005

MMRRC Submission

043165-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R5626 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

114032448-114032746 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 114032472 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 92 (T92M)

Ref Sequence

ENSEMBL: ENSMUSP00000100251 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103470] [ENSMUST00000195641]

AlphaFold

A0A075B5S0

Predicted Effect

probably damaging
Transcript: ENSMUST00000103470
AA Change: T92M

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000100251
Gene: ENSMUSG00000076661
AA Change: T92M

Domain	Start	End	E-Value	Type
IGv	17	99	2.15e-26	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000195641
AA Change: T110M

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000141383
Gene: ENSMUSG00000076661
AA Change: T110M

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
IGv	35	117	8.7e-29	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adh1	G	C	3: 137,986,171 (GRCm39)	V53L	probably benign	Het
Arfgap2	C	T	2: 91,105,737 (GRCm39)	Q514*	probably null	Het
Calhm2	A	C	19: 47,121,558 (GRCm39)	C204G	probably damaging	Het
Carhsp1	T	C	16: 8,478,897 (GRCm39)	N119D	probably benign	Het
Cfap57	A	G	4: 118,471,980 (GRCm39)	L133P	probably damaging	Het
Clcn4	A	T	7: 7,292,017 (GRCm39)	V598E	probably damaging	Het
Cpxm2	TGCAGCAGCAGCAGCAGCAG	TGCAGCAGCAGCAGCAG	7: 131,661,581 (GRCm39)		probably benign	Het
Ddi1	T	C	9: 6,266,003 (GRCm39)	H122R	probably benign	Het
Dync1h1	A	G	12: 110,607,575 (GRCm39)	T2697A	probably benign	Het
Ednrb	T	A	14: 104,080,564 (GRCm39)	I117F	probably damaging	Het
Egflam	A	G	15: 7,280,688 (GRCm39)	S446P	possibly damaging	Het
F5	A	G	1: 164,036,604 (GRCm39)	I1922V	probably damaging	Het
Gpc1	T	A	1: 92,784,841 (GRCm39)		probably null	Het
Gphn	A	C	12: 78,730,671 (GRCm39)	I769L	probably benign	Het
Grid2	T	C	6: 64,053,929 (GRCm39)		probably null	Het
Hira	G	T	16: 18,746,262 (GRCm39)	Q468H	probably damaging	Het
Hmcn1	C	T	1: 150,532,318 (GRCm39)	G3154E	probably damaging	Het
Lcmt2	T	C	2: 120,969,943 (GRCm39)	E380G	probably benign	Het
Ms4a14	A	G	19: 11,281,419 (GRCm39)	F380L	probably benign	Het
Myof	T	C	19: 37,911,438 (GRCm39)	N1511D	probably benign	Het
Ncbp1	G	A	4: 46,161,290 (GRCm39)	S422N	probably damaging	Het
Pcolce	T	A	5: 137,608,661 (GRCm39)	T26S	probably damaging	Het
Pitpnm3	T	C	11: 72,003,158 (GRCm39)	I51V	probably benign	Het
Plcb3	T	C	19: 6,932,643 (GRCm39)	S1041G	probably benign	Het
Ppp5c	T	C	7: 16,761,629 (GRCm39)	D37G	probably benign	Het
Prkca	T	C	11: 107,948,641 (GRCm39)	D116G	possibly damaging	Het
Qrsl1	A	T	10: 43,757,516 (GRCm39)	D367E	probably benign	Het
Rbm26	T	C	14: 105,381,667 (GRCm39)	T493A	probably benign	Het
Saxo1	T	C	4: 86,363,826 (GRCm39)	E219G	probably damaging	Het
Slc22a16	A	T	10: 40,460,849 (GRCm39)		probably null	Het
Tmem30c	T	C	16: 57,096,506 (GRCm39)	N205S	possibly damaging	Het
Trp53i11	A	G	2: 93,029,723 (GRCm39)	N119S	possibly damaging	Het
Wnt3a	A	T	11: 59,181,409 (GRCm39)	I22N	probably benign	Het
Zfp998	A	G	13: 66,580,040 (GRCm39)	Y148H	probably benign	Het

Other mutations in Ighv16-1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01791:Ighv16-1	APN	12	114,032,589 (GRCm39)	missense	probably benign	0.02
IGL02610:Ighv16-1	APN	12	114,032,733 (GRCm39)	missense	probably damaging	1.00
R4832:Ighv16-1	UTSW	12	114,032,466 (GRCm39)	missense	probably damaging	0.97
R4843:Ighv16-1	UTSW	12	114,032,504 (GRCm39)	nonsense	probably null
R5086:Ighv16-1	UTSW	12	114,032,510 (GRCm39)	missense	probably benign	0.04
R5381:Ighv16-1	UTSW	12	114,032,593 (GRCm39)	missense	probably benign	0.10
R7363:Ighv16-1	UTSW	12	114,032,721 (GRCm39)	missense	probably damaging	1.00
R7820:Ighv16-1	UTSW	12	114,032,589 (GRCm39)	missense	probably benign	0.02
R8716:Ighv16-1	UTSW	12	114,032,616 (GRCm39)	missense	probably benign	0.01
R9061:Ighv16-1	UTSW	12	114,032,504 (GRCm39)	nonsense	probably null
Z1177:Ighv16-1	UTSW	12	114,032,745 (GRCm39)	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- TAGAAGCTGTGCCTCCATGGAG -3'
(R):5'- CAGTGATCATTGGATGGACTGG -3'

Sequencing Primer
(F):5'- CTCCATGGAGGTTTTCTGGAAAG -3'
(R):5'- CATTGGATGGACTGGTTTCGCC -3'

Posted On

2016-11-08