Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00484:Ighv1-19'

332197

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ighv1-19

Ensembl Gene

ENSMUSG00000096410

Gene Name

immunoglobulin heavy variable V1-19

Synonyms

Gm16855

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.283) question?

Stock #

IGL00484

Quality Score

Status

Chromosome

Chromosomal Location

114708648-114709135 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 114708709 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 97 (T97I)

Ref Sequence

ENSEMBL: ENSMUSP00000141737 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103505] [ENSMUST00000193855]

Predicted Effect

probably benign
Transcript: ENSMUST00000103505
AA Change: T96I

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000100286
Gene: ENSMUSG00000096410
AA Change: T96I

Domain	Start	End	E-Value	Type
IGv	35	116	8.41e-29	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192823

Predicted Effect

probably benign
Transcript: ENSMUST00000193855
AA Change: T97I

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000141737
Gene: ENSMUSG00000096410
AA Change: T97I

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGv	36	117	3.5e-31	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810013L24Rik	T	C	16: 8,831,311		probably benign	Het
Adgra1	A	G	7: 139,875,944	Q496R	probably benign	Het
Ankrd17	A	T	5: 90,268,361	S1151T	probably damaging	Het
Ankrd55	A	G	13: 112,367,794	K330R	probably benign	Het
Anln	A	T	9: 22,360,824	Y666*	probably null	Het
Atp1a2	A	G	1: 172,276,002	W984R	probably damaging	Het
Atp8b3	G	T	10: 80,526,164		probably benign	Het
Casc3	A	G	11: 98,823,202	E420G	possibly damaging	Het
Cep250	G	A	2: 155,991,329	D1724N	probably benign	Het
Dhx15	T	G	5: 52,166,812	E379D	probably benign	Het
Dock1	T	A	7: 135,146,531		probably benign	Het
Exph5	C	T	9: 53,376,706	Q1696*	probably null	Het
Fkbp6	C	A	5: 135,339,948	A213S	possibly damaging	Het
Fndc4	A	G	5: 31,293,496		probably benign	Het
Gli3	A	T	13: 15,644,392	T260S	possibly damaging	Het
Glmp	T	A	3: 88,325,862		probably null	Het
Gm12794	T	C	4: 101,941,701	F290L	probably benign	Het
Gm13101	G	A	4: 143,966,614		probably benign	Het
Hist1h2an	G	T	13: 21,786,921	R100S	probably benign	Het
Kdm6b	T	C	11: 69,406,306	S407G	possibly damaging	Het
Lrp1b	T	C	2: 41,110,861	Y2231C	probably damaging	Het
Lyst	T	A	13: 13,709,603	S2999T	probably benign	Het
Lztr1	T	C	16: 17,517,450		probably benign	Het
N4bp2	T	C	5: 65,807,524	V972A	probably damaging	Het
Ncoa6	A	T	2: 155,406,208	S1725R	probably damaging	Het
Nfkbiz	A	G	16: 55,817,909	V396A	probably benign	Het
Nup205	A	G	6: 35,214,802	Q1074R	probably damaging	Het
Pard3	T	C	8: 127,371,846	V456A	probably benign	Het
Peli1	T	A	11: 21,146,952	V114E	probably damaging	Het
Phf20l1	T	G	15: 66,615,633		probably benign	Het
Pik3r1	A	C	13: 101,701,747	I267S	probably benign	Het
Polh	C	T	17: 46,172,243		probably benign	Het
Ppl	A	G	16: 5,087,952	I1493T	probably benign	Het
Prg3	A	G	2: 84,988,747	I6V	probably benign	Het
Ptprg	T	C	14: 12,215,220	V1069A	probably damaging	Het
Rasal2	A	T	1: 157,174,175		probably null	Het
Slc36a2	A	T	11: 55,162,788	Y341*	probably null	Het
Smim4	T	A	14: 31,088,922		probably benign	Het
Snapc3	A	G	4: 83,436,396	I215V	probably damaging	Het
Srrm2	T	A	17: 23,818,518	S1475T	probably benign	Het
Sycp2	A	T	2: 178,382,348	D414E	probably damaging	Het
Tanc1	A	G	2: 59,793,176	T468A	probably benign	Het
Tfap2d	A	G	1: 19,142,881	T310A	probably benign	Het
Tgfbr2	T	A	9: 116,158,289	I51F	probably benign	Het
Trip11	A	T	12: 101,885,311	C546*	probably null	Het
Ttbk2	C	T	2: 120,773,886	W210*	probably null	Het
Upk1b	T	G	16: 38,780,016	N201H	possibly damaging	Het
Ush2a	A	T	1: 188,782,513	T3180S	probably benign	Het
Vps13d	T	G	4: 145,126,575	Q2323P	probably benign	Het
Zfp810	A	T	9: 22,278,309	Y434*	probably null	Het

Other mutations in Ighv1-19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00966:Ighv1-19	APN	12	114708949	missense	possibly damaging	0.51
IGL02545:Ighv1-19	APN	12	114708739	missense	probably damaging	1.00
R3729:Ighv1-19	UTSW	12	114708877	missense	probably damaging	1.00
R3730:Ighv1-19	UTSW	12	114708877	missense	probably damaging	1.00
R3731:Ighv1-19	UTSW	12	114708877	missense	probably damaging	1.00
R4093:Ighv1-19	UTSW	12	114708730	missense	probably damaging	1.00
R4969:Ighv1-19	UTSW	12	114708757	missense	probably benign	0.12
R5021:Ighv1-19	UTSW	12	114709066	missense	probably benign	0.00
R6448:Ighv1-19	UTSW	12	114708676	missense	probably damaging	1.00
R7335:Ighv1-19	UTSW	12	114708951	critical splice acceptor site	probably benign

Posted On

2015-08-05