Mutagenetix > Incidental Mutation

Incidental Mutation 'R6538:Ighv9-1'

520552

Institutional Source

Beutler Lab

Gene Symbol

Ighv9-1

Ensembl Gene

ENSMUSG00000096805

Gene Name

immunoglobulin heavy variable 9-1

Synonyms

Gm16987

MMRRC Submission

044664-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R6538 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

114057548-114057841 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 114057685 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 72 (T72S)

Ref Sequence

ENSEMBL: ENSMUSP00000141346 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103471] [ENSMUST00000195884]

AlphaFold

A0A075B5S1

Predicted Effect

probably benign
Transcript: ENSMUST00000103471
AA Change: T53S

PolyPhen 2 Score 0.401 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000100252
Gene: ENSMUSG00000096805
AA Change: T53S

Domain	Start	End	E-Value	Type
IGv	17	98	9.37e-27	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192430

Predicted Effect

possibly damaging
Transcript: ENSMUST00000195884
AA Change: T72S

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000141346
Gene: ENSMUSG00000096805
AA Change: T72S

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGv	36	117	3.9e-29	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930009A15Rik	A	G	10: 115,406,104 (GRCm39)		probably benign	Het
Abcd4	T	A	12: 84,658,535 (GRCm39)	M223L	probably benign	Het
Adat1	T	C	8: 112,695,094 (GRCm39)	I482V	probably benign	Het
Adrm1b	C	T	3: 92,336,562 (GRCm39)	V47M	possibly damaging	Het
Arfgef2	A	G	2: 166,735,541 (GRCm39)		probably null	Het
Atn1	A	G	6: 124,723,512 (GRCm39)		probably benign	Het
Cyb561d2	C	A	9: 107,417,216 (GRCm39)	M178I	possibly damaging	Het
Dnah14	A	T	1: 181,412,550 (GRCm39)	H30L	unknown	Het
Dnah2	T	C	11: 69,328,023 (GRCm39)	I3367V	possibly damaging	Het
Fcmr	A	G	1: 130,802,762 (GRCm39)	Y125C	possibly damaging	Het
Gm7298	G	T	6: 121,753,132 (GRCm39)	V870L	probably damaging	Het
Grin3a	T	C	4: 49,770,856 (GRCm39)	S639G	probably damaging	Het
H1f6	A	G	13: 23,879,904 (GRCm39)	E19G	probably benign	Het
Klra2	T	A	6: 131,219,953 (GRCm39)	H76L	probably damaging	Het
Lamp1	A	G	8: 13,221,285 (GRCm39)	T209A	probably benign	Het
Lrrc9	T	A	12: 72,547,703 (GRCm39)	Y1294N	probably benign	Het
Or2b11	C	T	11: 59,462,411 (GRCm39)	V52I	probably benign	Het
Or5t9	A	T	2: 86,659,869 (GRCm39)	T258S	possibly damaging	Het
Peg10	GAT	GATCAT	6: 4,756,449 (GRCm39)		probably benign	Het
Pik3ca	T	C	3: 32,493,853 (GRCm39)	Y272H	probably damaging	Het
Spindoc	T	C	19: 7,360,064 (GRCm39)	I35V	probably benign	Het
St6galnac4	A	C	2: 32,487,090 (GRCm39)	M262L	possibly damaging	Het
Szt2	C	T	4: 118,247,674 (GRCm39)		probably null	Het
Tcstv7b	T	C	13: 120,702,468 (GRCm39)	V88A	possibly damaging	Het
Trem1	T	C	17: 48,544,118 (GRCm39)	Y48H	possibly damaging	Het
Trim38	A	T	13: 23,969,932 (GRCm39)	T164S	probably damaging	Het
Zfp715	A	T	7: 42,948,573 (GRCm39)	H462Q	possibly damaging	Het
Zfyve16	C	T	13: 92,641,024 (GRCm39)	G1240E	probably damaging	Het

Other mutations in Ighv9-1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01295:Ighv9-1	APN	12	114,057,619 (GRCm39)	missense	probably damaging	1.00
IGL01760:Ighv9-1	APN	12	114,057,814 (GRCm39)	nonsense	probably null
R4031:Ighv9-1	UTSW	12	114,057,844 (GRCm39)	missense	probably benign	0.01
R6147:Ighv9-1	UTSW	12	114,057,840 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CTCTGGTTGCTTCTGGACAC -3'
(R):5'- GTGTTCTTTTCACAGGTGCC -3'

Sequencing Primer
(F):5'- GTTGCTTCTGGACACAGCTGAAC -3'
(R):5'- CCAAGCACAGATCCAGTTGGTG -3'

Posted On

2018-06-06