Mutagenetix > Incidental Mutation

Incidental Mutation 'R5505:Ighv1-4'

430897

Institutional Source

Beutler Lab

Gene Symbol

Ighv1-4

Ensembl Gene

ENSMUSG00000095442

Gene Name

immunoglobulin heavy variable 1-4

Synonyms

Gm16694

MMRRC Submission

043066-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.448) question?

Stock #

R5505 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

114450756-114451049 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 114451057 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 17 (V17A)

Ref Sequence

ENSEMBL: ENSMUSP00000100274 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103493]

AlphaFold

A0A075B5T4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103493
AA Change: V17A

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000100274
Gene: ENSMUSG00000095442
AA Change: V17A

Domain	Start	End	E-Value	Type
IGv	36	117	4.98e-31	SMART

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.2%
20x: 90.9%

Validation Efficiency

98% (47/48)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb8	T	A	5: 24,606,036 (GRCm39)	D240E	probably damaging	Het
Alpk3	G	A	7: 80,728,309 (GRCm39)	E480K	possibly damaging	Het
Arhgap20	A	G	9: 51,750,248 (GRCm39)	E372G	probably damaging	Het
Atp23	G	T	10: 126,723,499 (GRCm39)	A201D	probably damaging	Het
Bpifb1	A	G	2: 154,046,699 (GRCm39)	D73G	probably benign	Het
Ccdc7a	A	G	8: 129,706,655 (GRCm39)	S325P	possibly damaging	Het
Cckar	A	G	5: 53,860,410 (GRCm39)	Y140H	probably damaging	Het
Cd46	A	T	1: 194,767,688 (GRCm39)	D124E	possibly damaging	Het
Cep290	T	C	10: 100,335,048 (GRCm39)		probably null	Het
Cmklr1	C	G	5: 113,752,990 (GRCm39)	D4H	possibly damaging	Het
Eif2ak1	T	C	5: 143,803,745 (GRCm39)	S34P	probably benign	Het
Enah	T	A	1: 181,734,018 (GRCm39)		probably benign	Het
Gad2	C	G	2: 22,514,845 (GRCm39)	L108V	probably benign	Het
Gpr22	T	C	12: 31,759,724 (GRCm39)	I133V	probably damaging	Het
Hdac4	T	C	1: 91,903,187 (GRCm39)	T13A	probably benign	Het
Ints8	T	A	4: 11,221,143 (GRCm39)	Q744L	probably benign	Het
Lrit3	C	T	3: 129,585,087 (GRCm39)	V224I	possibly damaging	Het
Mgat4a	T	C	1: 37,535,035 (GRCm39)	I108V	probably benign	Het
Mmp9	T	C	2: 164,795,528 (GRCm39)	I682T	probably benign	Het
Myh7b	G	A	2: 155,474,592 (GRCm39)	A1742T	probably benign	Het
Nlrp12	C	T	7: 3,298,015 (GRCm39)	G52D	probably damaging	Het
Or5t9	T	C	2: 86,659,845 (GRCm39)	F250L	possibly damaging	Het
Pcnx1	T	C	12: 81,996,927 (GRCm39)	L941P	probably damaging	Het
Pla2g4e	T	C	2: 120,075,256 (GRCm39)	R45G	probably benign	Het
Plcz1	C	G	6: 139,961,942 (GRCm39)	G203A	probably damaging	Het
Poldip2	A	G	11: 78,406,001 (GRCm39)	T76A	probably benign	Het
Prdm15	T	A	16: 97,618,183 (GRCm39)	H325L	possibly damaging	Het
Ralyl	A	T	3: 13,841,980 (GRCm39)	I39F	probably damaging	Het
Rnf220	A	C	4: 117,153,288 (GRCm39)		probably benign	Het
Rnpc3	T	C	3: 113,409,102 (GRCm39)	K318E	probably damaging	Het
Rsbn1	T	A	3: 103,836,259 (GRCm39)	N432K	probably damaging	Het
Sh3yl1	T	A	12: 30,992,072 (GRCm39)	Y176N	probably damaging	Het
Slc25a30	G	A	14: 76,000,789 (GRCm39)	L272F	probably damaging	Het
Spag1	T	C	15: 36,234,772 (GRCm39)	V844A	probably damaging	Het
Srsf5	T	C	12: 80,995,857 (GRCm39)		probably benign	Het
Tle2	T	A	10: 81,417,574 (GRCm39)	D223E	probably benign	Het
Tmem192	A	G	8: 65,416,898 (GRCm39)	E39G	possibly damaging	Het
Trpc6	T	A	9: 8,626,736 (GRCm39)	L362H	probably damaging	Het
Tuba4a	A	G	1: 75,193,060 (GRCm39)	Y185H	probably damaging	Het
Uba6	A	G	5: 86,268,405 (GRCm39)	V941A	probably benign	Het
Vmn2r35	A	T	7: 7,789,479 (GRCm39)	Y753N	probably damaging	Het
Zfp941	C	T	7: 140,391,830 (GRCm39)	V510I	probably benign	Het

Other mutations in Ighv1-4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02380:Ighv1-4	APN	12	114,450,753 (GRCm39)	unclassified	probably benign
IGL02661:Ighv1-4	APN	12	114,450,850 (GRCm39)	missense	probably damaging	1.00
IGL02736:Ighv1-4	APN	12	114,450,872 (GRCm39)	missense	probably benign	0.12
PIT4403001:Ighv1-4	UTSW	12	114,450,824 (GRCm39)	missense	probably damaging	0.99
R0066:Ighv1-4	UTSW	12	114,450,989 (GRCm39)	missense	possibly damaging	0.83
R2900:Ighv1-4	UTSW	12	114,450,788 (GRCm39)	missense	probably benign	0.28
R3014:Ighv1-4	UTSW	12	114,450,769 (GRCm39)	missense	possibly damaging	0.78
R4074:Ighv1-4	UTSW	12	114,451,147 (GRCm39)	missense	possibly damaging	0.52
R6207:Ighv1-4	UTSW	12	114,451,142 (GRCm39)	critical splice donor site	probably benign
R6309:Ighv1-4	UTSW	12	114,451,015 (GRCm39)	missense	probably benign	0.33
R7286:Ighv1-4	UTSW	12	114,450,941 (GRCm39)	missense	probably benign	0.03
R7299:Ighv1-4	UTSW	12	114,450,908 (GRCm39)	missense	probably benign	0.24
R7300:Ighv1-4	UTSW	12	114,450,908 (GRCm39)	missense	probably benign	0.24
R7917:Ighv1-4	UTSW	12	114,451,165 (GRCm39)	missense	possibly damaging	0.55
R8374:Ighv1-4	UTSW	12	114,450,899 (GRCm39)	missense	probably benign	0.12
R9010:Ighv1-4	UTSW	12	114,450,949 (GRCm39)	missense	possibly damaging	0.88
R9127:Ighv1-4	UTSW	12	114,450,879 (GRCm39)	nonsense	probably null
Z1177:Ighv1-4	UTSW	12	114,451,024 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- ATTTGTCTGCAGTCAATGTGGC -3'
(R):5'- AGTGTCCTCTCCACAGACAAAG -3'

Sequencing Primer
(F):5'- AATGTGGCCTTGTCCTTGAAC -3'
(R):5'- GAAAACTCTGACTCAACATGGAAAG -3'

Posted On

2016-10-05