Mutagenetix > Incidental Mutation

Incidental Mutation 'R9272:Ighv5-9-1'

703038

Institutional Source

Beutler Lab

Gene Symbol

Ighv5-9-1

Ensembl Gene

ENSMUSG00000095210

Gene Name

immunoglobulin heavy variable 5-9-1

Synonyms

Gm16886

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.116) question?

Stock #

R9272 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113736111-113736630 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 113736198 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 98 (I98N)

Ref Sequence

ENSEMBL: ENSMUSP00000141243 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103452] [ENSMUST00000192264]

AlphaFold

A0A075B5Q6

Predicted Effect

probably damaging
Transcript: ENSMUST00000103452
AA Change: I88N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000100233
Gene: ENSMUSG00000095210
AA Change: I88N

Domain	Start	End	E-Value	Type
IGv	35	116	8.34e-33	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000192264
AA Change: I98N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000141243
Gene: ENSMUSG00000095210
AA Change: I98N

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
IGv	45	126	3.3e-35	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (67/67)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	A	G	6: 146,953,001	V181A	probably damaging	Het
9330182L06Rik	T	C	5: 9,410,699	Y207H	probably damaging	Het
Abca16	T	A	7: 120,477,770	D686E	probably benign	Het
Abca8a	C	A	11: 110,063,082	C844F	probably damaging	Het
Acd	G	A	8: 105,698,320	P396L	probably damaging	Het
Adamtsl3	A	G	7: 82,540,545	Y659C	probably damaging	Het
Ankfn1	C	T	11: 89,523,049	V167M	probably benign	Het
Ankrd13c	T	A	3: 157,994,721	L393Q	possibly damaging	Het
Arid1b	G	A	17: 5,336,604	G1391D	possibly damaging	Het
Arid5b	T	A	10: 68,102,052	D415V	probably damaging	Het
Arl13b	G	T	16: 62,827,411	H45N	probably benign	Het
Atp13a4	A	T	16: 29,449,979	I519N		Het
Atrnl1	T	C	19: 57,654,988	I436T	probably benign	Het
Bbx	A	G	16: 50,202,572	I675T	probably damaging	Het
Bcas1	A	T	2: 170,348,120	V619E	probably damaging	Het
Cad	T	C	5: 31,061,232	V501A	possibly damaging	Het
Car8	T	A	4: 8,169,686	N274I	probably damaging	Het
Ccdc3	A	G	2: 5,141,332	Q159R	probably damaging	Het
Ccdc7b	A	T	8: 129,166,978	E95D	possibly damaging	Het
Cdh12	G	T	15: 21,492,715		probably benign	Het
Col11a1	G	T	3: 114,108,299	G548*	probably null	Het
Cpb2	A	G	14: 75,283,363	E406G	probably damaging	Het
Crocc	T	C	4: 141,019,821	S1723G	probably benign	Het
Ctu2	T	C	8: 122,479,306	V262A	probably benign	Het
Dmxl2	A	T	9: 54,404,120	N1772K	possibly damaging	Het
Dock3	A	T	9: 106,897,370	M62K	probably benign	Het
Dok7	G	A	5: 35,056,895		probably benign	Het
E2f3	A	G	13: 29,918,646	Y211H	probably damaging	Het
Fam129c	A	C	8: 71,602,876	D310A	probably damaging	Het
Fam53c	T	A	18: 34,762,721	S25R	probably damaging	Het
Fhod3	T	G	18: 24,897,624		probably benign	Het
Foxp4	A	G	17: 47,869,108	Y623H	unknown	Het
Ggt1	A	T	10: 75,585,915	H532L	probably benign	Het
Gm10775	A	C	13: 65,259,956	T24P	unknown	Het
Hinfp	A	G	9: 44,302,575	S2P	probably benign	Het
Hs3st4	A	G	7: 123,983,526	T116A	probably benign	Het
Ipo11	A	T	13: 106,910,205	Y171N	probably benign	Het
Jph1	C	A	1: 17,091,614	A275S	probably damaging	Het
Kcnh6	C	G	11: 106,034,034	H941Q	possibly damaging	Het
Kcnh7	A	T	2: 62,787,753	I464K	probably damaging	Het
Lrp8	C	A	4: 107,859,961	P603T	probably benign	Het
Man1c1	C	A	4: 134,563,807	D593Y	probably damaging	Het
Mdm4	A	T	1: 133,001,431	I176K	possibly damaging	Het
Mpo	T	C	11: 87,795,867	V139A	probably benign	Het
Nicn1	C	T	9: 108,294,509	R163C	possibly damaging	Het
Nup98	C	A	7: 102,138,830	R1011L	probably benign	Het
Olfr1015	A	T	2: 85,785,744	I78L	probably benign	Het
Olfr1301	G	A	2: 111,754,620	V124M	probably damaging	Het
Olfr1366	A	G	13: 21,537,694	S89P	possibly damaging	Het
Park2	T	A	17: 11,237,640	V117E	probably damaging	Het
Pcdh7	A	G	5: 57,721,437	D778G	possibly damaging	Het
Pcdhb12	T	C	18: 37,437,622	F607S	probably damaging	Het
Pcolce	A	G	5: 137,608,071	F157L	probably benign	Het
Pogk	T	C	1: 166,399,211	Y457C	probably damaging	Het
Ppp1r21	G	A	17: 88,558,658	E323K	possibly damaging	Het
Prr12	A	C	7: 45,043,387	F1574V	probably damaging	Het
Rasl2-9	A	T	7: 5,125,449	F161I	probably damaging	Het
Rb1	A	G	14: 73,280,162	I268T	possibly damaging	Het
Rin3	A	T	12: 102,369,432	D534V	probably damaging	Het
Scn5a	C	T	9: 119,486,651	G1664S	probably damaging	Het
Sin3b	T	C	8: 72,744,540	S372P	probably benign	Het
Snx32	T	A	19: 5,498,457	H65L	probably damaging	Het
Spidr	T	A	16: 16,037,680	I324F	probably damaging	Het
Stab1	A	T	14: 31,145,341	F1687L	probably benign	Het
Taar6	T	C	10: 23,985,005	I214M	probably benign	Het
Vmn2r105	T	A	17: 20,227,423	N380Y	probably damaging	Het

Other mutations in Ighv5-9-1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01368:Ighv5-9-1	APN	12	113736390	missense	probably damaging	1.00
R4921:Ighv5-9-1	UTSW	12	113736294	missense	possibly damaging	0.61
R5161:Ighv5-9-1	UTSW	12	113736157	missense	possibly damaging	0.70
R5559:Ighv5-9-1	UTSW	12	113736125	nonsense	probably null
R5678:Ighv5-9-1	UTSW	12	113736587	missense	possibly damaging	0.72
R7529:Ighv5-9-1	UTSW	12	113736334	missense	possibly damaging	0.91
R7618:Ighv5-9-1	UTSW	12	113736199	missense	probably damaging	0.99
R7791:Ighv5-9-1	UTSW	12	113736545	missense	probably damaging	0.99
R9331:Ighv5-9-1	UTSW	12	113736258	missense	possibly damaging	0.80
Z1088:Ighv5-9-1	UTSW	12	113736120	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAATCAGAACTCCATATGCTCTC -3'
(R):5'- TGTCCAGTGTGACGTGAAGC -3'

Sequencing Primer
(F):5'- AGAACTCCATATGCTCTCTGCGC -3'
(R):5'- ACGTGAAGCTGGTGGAGTC -3'

Posted On

2022-03-25