Mutagenetix > Incidental Mutation

Incidental Mutation 'R5252:Ighv9-2'

399139

Institutional Source

Beutler Lab

Gene Symbol

Ighv9-2

Ensembl Gene

ENSMUSG00000094102

Gene Name

immunoglobulin heavy variable V9-2

Synonyms

MMRRC Submission

042823-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

R5252 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

114072621-114073050 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 114072838 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 45 (V45A)

Ref Sequence

ENSEMBL: ENSMUSP00000100253 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103472]

AlphaFold

A0A0B4J1J4

Predicted Effect

probably benign
Transcript: ENSMUST00000103472
AA Change: V45A

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000100253
Gene: ENSMUSG00000094102
AA Change: V45A

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGv	36	117	1.26e-27	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195542

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alox12b	G	T	11: 69,056,762 (GRCm39)	R386L	probably damaging	Het
Ano8	A	T	8: 71,935,261 (GRCm39)	Y346N	probably damaging	Het
Cabp4	T	C	19: 4,186,067 (GRCm39)		probably benign	Het
Canx	A	T	11: 50,199,621 (GRCm39)	I148N	probably damaging	Het
Ccdc141	A	G	2: 76,962,593 (GRCm39)	V117A	probably benign	Het
Cdk12	A	T	11: 98,134,335 (GRCm39)	N1078Y	unknown	Het
Cdk7	T	A	13: 100,866,968 (GRCm39)	K42*	probably null	Het
Col6a5	T	C	9: 105,817,489 (GRCm39)	D274G	unknown	Het
Cux1	T	C	5: 136,337,151 (GRCm39)	E696G	probably damaging	Het
Cxxc1	C	T	18: 74,353,022 (GRCm39)	A444V	probably benign	Het
Dll1	T	C	17: 15,588,951 (GRCm39)	K575E	probably damaging	Het
Dnah11	A	G	12: 118,089,676 (GRCm39)	F1130S	probably damaging	Het
Dnah2	A	G	11: 69,420,295 (GRCm39)	F140L	probably damaging	Het
Dysf	T	C	6: 84,163,450 (GRCm39)	V1625A	probably damaging	Het
Evi5	T	C	5: 107,943,618 (GRCm39)	T592A	probably benign	Het
Fas	T	C	19: 34,294,043 (GRCm39)	S133P	probably damaging	Het
Gpr139	A	G	7: 118,744,427 (GRCm39)	S53P	probably benign	Het
H2-Q4	T	C	17: 35,599,411 (GRCm39)	F165L	probably benign	Het
Inpp1	T	G	1: 52,833,706 (GRCm39)	D130A	probably benign	Het
Lin54	C	T	5: 100,628,063 (GRCm39)	V47I	probably benign	Het
Nav3	TGAAGAAGAAGAAGA	TGAAGAAGAAGA	10: 109,550,152 (GRCm39)		probably benign	Het
Nexn	T	C	3: 151,943,590 (GRCm39)	T438A	probably benign	Het
Or4c112	A	T	2: 88,853,598 (GRCm39)	F250I	probably damaging	Het
Or8g4	T	G	9: 39,661,784 (GRCm39)	I34S	probably damaging	Het
Pilrb1	T	A	5: 137,853,315 (GRCm39)	M163L	probably benign	Het
Pkhd1	A	T	1: 20,420,635 (GRCm39)		probably null	Het
Ppard	G	A	17: 28,517,822 (GRCm39)	V297I	probably benign	Het
Rabgap1	T	C	2: 37,365,369 (GRCm39)	V214A	probably benign	Het
Serpinc1	T	C	1: 160,817,191 (GRCm39)	F95S	probably damaging	Het
Slc5a8	T	C	10: 88,742,209 (GRCm39)	Y302H	probably damaging	Het
Slco4a1	G	A	2: 180,106,252 (GRCm39)	A145T	possibly damaging	Het
Spata31g1	T	A	4: 42,971,706 (GRCm39)	F346L	probably benign	Het
Sptlc2	A	T	12: 87,382,829 (GRCm39)	M425K	possibly damaging	Het
Tent5c	A	G	3: 100,380,024 (GRCm39)	L244P	probably damaging	Het
Trp53bp1	A	G	2: 121,074,464 (GRCm39)	S429P	probably benign	Het
Unc13a	T	A	8: 72,105,208 (GRCm39)	T723S	probably damaging	Het
Ush2a	A	T	1: 188,553,914 (GRCm39)	I3468F	possibly damaging	Het
Utp20	A	T	10: 88,586,532 (GRCm39)	D2547E	probably benign	Het
Wnk4	A	G	11: 101,159,574 (GRCm39)	D593G	possibly damaging	Het
Zfyve26	A	G	12: 79,315,756 (GRCm39)	L1240P	probably damaging	Het

Other mutations in Ighv9-2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02860:Ighv9-2	APN	12	114,072,857 (GRCm39)	missense	possibly damaging	0.57
IGL02980:Ighv9-2	UTSW	12	114,072,839 (GRCm39)	missense	probably damaging	0.96
R5034:Ighv9-2	UTSW	12	114,073,025 (GRCm39)	missense	probably damaging	1.00
R5336:Ighv9-2	UTSW	12	114,072,905 (GRCm39)	missense	probably benign
R7918:Ighv9-2	UTSW	12	114,072,911 (GRCm39)	missense	probably benign	0.00
R8032:Ighv9-2	UTSW	12	114,072,764 (GRCm39)	missense	possibly damaging	0.78
R9091:Ighv9-2	UTSW	12	114,072,896 (GRCm39)	missense	probably damaging	1.00
R9270:Ighv9-2	UTSW	12	114,072,896 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAGAAATATGTAGCCGTGTCC -3'
(R):5'- GCTATTCCTGATGGCAGCTG -3'

Sequencing Primer
(F):5'- AATATGTAGCCGTGTCCTCATTTTTG -3'
(R):5'- GCTGCCCAAAGTAAGACATCAG -3'

Posted On

2016-07-06