Mutagenetix > Incidental Mutations

Incidental Mutation 'R3413:Ighv1-23'

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475752

Institutional Source

Beutler Lab

Gene Symbol

Ighv1-23

Ensembl Gene

ENSMUSG00000103290

Gene Name

immunoglobulin heavy variable V1-23

Synonyms

Ighv1-23, immunoglobulin heavy variable V1-23

MMRRC Submission

040631-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.602) question?

Stock #

R3413 (G1)

Quality Score

114

Status

Not validated

Chromosome

Chromosomal Location

114764450-114764883 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 114764467 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 112 (V112I)

Ref Sequence

ENSEMBL: ENSMUSP00000141293 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000194625]

Predicted Effect

probably benign
Transcript: ENSMUST00000194625
AA Change: V112I

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000141293
Gene: ENSMUSG00000103290
AA Change: V112I

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGv	36	117	4.5e-26	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

98% (48/49)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd13	T	C	8: 9,987,387		probably benign	Het
Ap2a2	T	A	7: 141,598,776	N105K	probably benign	Het
Axin1	A	G	17: 26,188,038	H535R	probably damaging	Het
Ccnb3	T	A	X: 7,007,801	E846D	probably benign	Het
Cdca7	G	A	2: 72,485,287	G365R	probably damaging	Het
Clvs2	T	A	10: 33,622,971		probably benign	Het
Coq10a	A	G	10: 128,365,129	V93A	possibly damaging	Het
Ddx42	A	G	11: 106,247,810	T812A	probably benign	Het
Eya1	T	A	1: 14,274,209		probably null	Het
Fcna	G	C	2: 25,627,493	P49A	probably damaging	Het
Gckr	T	A	5: 31,300,867		probably null	Het
Golgb1	A	G	16: 36,887,347	K68E	probably damaging	Het
Got1l1	A	G	8: 27,199,836		probably null	Het
Hip1	T	C	5: 135,422,172	E451G	probably damaging	Het
Hs6st2	C	T	X: 51,681,455	V50I	possibly damaging	Het
Map1s	A	G	8: 70,912,519	N107D	probably damaging	Het
Mmel1	T	A	4: 154,889,586	V361D	probably damaging	Het
Myh15	A	G	16: 49,138,732	D989G	probably benign	Het
Myo1g	G	T	11: 6,517,870	H188Q	possibly damaging	Het
Nup210	G	T	6: 91,025,242	Q755K	probably benign	Het
Olfr114	A	G	17: 37,589,696	V219A	probably benign	Het
Olfr638	A	G	7: 104,003,832	M186V	probably damaging	Het
Pih1h3b	T	A	X: 140,106,021	N216K	possibly damaging	Het
Plcz1	C	T	6: 140,002,081	R525Q	probably damaging	Het
Ppef2	T	G	5: 92,228,722	S649R	probably damaging	Het
Rusc2	T	G	4: 43,415,935	S414A	probably damaging	Het
Sez6l	A	G	5: 112,475,361	L108P	possibly damaging	Het
Slc1a7	A	G	4: 108,010,994	E497G	probably benign	Het
Spag8	T	A	4: 43,651,606	S423C	probably damaging	Het
Sspo	C	T	6: 48,480,697	R3178C	probably damaging	Het
St6galnac1	A	G	11: 116,765,856	W486R	probably damaging	Het
Syk	A	G	13: 52,631,739	D327G	probably benign	Het
Tbc1d8b	C	T	X: 139,713,391	A391V	probably benign	Het
Tmed9	A	G	13: 55,595,574	E173G	probably benign	Het
Top1mt	T	C	15: 75,657,176	N573S	probably benign	Het
Tusc1	C	A	4: 93,334,936	R162L	probably damaging	Het
Ubn2	A	G	6: 38,498,739	T1211A	probably benign	Het
Unc80	G	A	1: 66,639,305	V2082I	probably benign	Het
Vmn2r63	A	G	7: 42,926,982	F469S	probably benign	Het
Zfp92	C	T	X: 73,420,294		probably benign	Het
Zfyve28	C	T	5: 34,199,684	M723I	probably benign	Het
Zmynd8	A	T	2: 165,815,451	M533K	probably damaging	Het

Other mutations in Ighv1-23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R3414:Ighv1-23	UTSW	12	114764467	missense	probably benign	0.10
R4602:Ighv1-23	UTSW	12	114764559	missense	probably benign	0.27
R4911:Ighv1-23	UTSW	12	114764752	missense	possibly damaging	0.81
R5347:Ighv1-23	UTSW	12	114764756	critical splice acceptor site	probably benign
R6603:Ighv1-23	UTSW	12	114764521	missense	probably damaging	1.00
R7438:Ighv1-23	UTSW	12	114764475	missense	probably damaging	1.00
R7771:Ighv1-23	UTSW	12	114764736	missense	probably benign	0.25
R8328:Ighv1-23	UTSW	12	114764496	missense	probably damaging	1.00
Z1177:Ighv1-23	UTSW	12	114764685	missense	probably damaging	0.98

Predicted Primers

Posted On

2017-05-11