Mutagenetix > Incidental Mutation

Incidental Mutation 'R4056:Ighv1-18'

475404

Institutional Source

Beutler Lab

Gene Symbol

Ighv1-18

Ensembl Gene

ENSMUSG00000076695

Gene Name

immunoglobulin heavy variable V1-18

Synonyms

Gm16856

MMRRC Submission

041617-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

R4056 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

114646252-114646545 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 114646287 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 106 (T106A)

Ref Sequence

ENSEMBL: ENSMUSP00000142064 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103504] [ENSMUST00000194350]

AlphaFold

A0A075B5U4

Predicted Effect

probably benign
Transcript: ENSMUST00000103504

SMART Domains

Protein: ENSMUSP00000100285
Gene: ENSMUSG00000076695

Domain	Start	End	E-Value	Type
Pfam:V-set	18	102	9.3e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000194350
AA Change: T106A

PolyPhen 2 Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000142064
Gene: ENSMUSG00000076695
AA Change: T106A

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGv	36	117	2.4e-29	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

100% (39/39)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730455P16Rik	T	A	11: 80,266,329 (GRCm39)		probably benign	Het
Abcf1	A	G	17: 36,270,807 (GRCm39)	I510T	possibly damaging	Het
Adamts18	T	A	8: 114,464,212 (GRCm39)	K749*	probably null	Het
Alms1	A	G	6: 85,564,785 (GRCm39)	E53G	unknown	Het
Bmper	A	G	9: 23,310,925 (GRCm39)	H453R	probably benign	Het
Btg1	T	A	10: 96,454,216 (GRCm39)	M1K	probably null	Het
Cfap91	A	G	16: 38,118,576 (GRCm39)	V741A	probably benign	Het
Cntfr	A	G	4: 41,658,900 (GRCm39)	I277T	probably damaging	Het
Col6a4	C	A	9: 105,903,665 (GRCm39)	R1642I	probably damaging	Het
Ctnna3	T	C	10: 64,838,347 (GRCm39)	I808T	probably damaging	Het
Cyp1a1	T	A	9: 57,607,432 (GRCm39)	V20D	probably benign	Het
Dnah17	T	C	11: 117,961,364 (GRCm39)	T2554A	probably benign	Het
Fcgbp	A	T	7: 27,803,541 (GRCm39)	Q1715L	probably benign	Het
Gabarapl1	T	C	6: 129,515,593 (GRCm39)	F77S	probably damaging	Het
Gvin3	G	T	7: 106,203,216 (GRCm39)	D9E	possibly damaging	Het
Hpse2	T	C	19: 43,282,714 (GRCm39)	K180E	probably damaging	Het
Hs3st2	T	A	7: 121,099,925 (GRCm39)	L257Q	probably damaging	Het
Ints2	A	C	11: 86,133,778 (GRCm39)	L424R	probably damaging	Het
Iqgap2	A	G	13: 95,886,541 (GRCm39)	V114A	probably damaging	Het
Kalrn	A	T	16: 34,134,579 (GRCm39)	I401N	probably damaging	Het
Mast2	T	A	4: 116,194,698 (GRCm39)		probably benign	Het
Myo18a	A	G	11: 77,702,839 (GRCm39)	E5G	possibly damaging	Het
Nav3	A	T	10: 109,716,394 (GRCm39)		probably null	Het
Net1	G	A	13: 3,934,949 (GRCm39)	T359I	probably damaging	Het
Pcsk9	T	A	4: 106,301,899 (GRCm39)	H616L	probably benign	Het
Plekha5	G	T	6: 140,534,958 (GRCm39)	V597L	possibly damaging	Het
Plekhg3	T	A	12: 76,612,021 (GRCm39)	I374N	probably damaging	Het
Pros1	A	T	16: 62,721,008 (GRCm39)	R188*	probably null	Het
Rhbg	C	T	3: 88,150,755 (GRCm39)	V434I	probably damaging	Het
Rims1	A	G	1: 22,363,163 (GRCm39)		probably benign	Het
Rxfp2	T	C	5: 149,975,098 (GRCm39)		probably null	Het
Sbf2	T	C	7: 110,040,673 (GRCm39)	I385V	probably damaging	Het
Slc22a23	A	C	13: 34,482,987 (GRCm39)	Y181*	probably null	Het
Spata31	T	A	13: 65,069,469 (GRCm39)	V539E	probably benign	Het
Trpv5	G	A	6: 41,636,639 (GRCm39)	R436C	probably damaging	Het
Vmn1r13	G	A	6: 57,186,970 (GRCm39)	C43Y	probably benign	Het
Wif1	G	A	10: 120,918,099 (GRCm39)	V156I	probably benign	Het
Zfyve16	T	C	13: 92,641,057 (GRCm39)	N1229S	probably damaging	Het

Other mutations in Ighv1-18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03269:Ighv1-18	APN	12	114,646,466 (GRCm39)	missense	probably damaging	1.00
R5766:Ighv1-18	UTSW	12	114,646,527 (GRCm39)	missense	probably damaging	1.00
R5801:Ighv1-18	UTSW	12	114,646,328 (GRCm39)	missense	probably damaging	1.00
R6387:Ighv1-18	UTSW	12	114,646,280 (GRCm39)	missense	probably damaging	0.98
R6981:Ighv1-18	UTSW	12	114,646,298 (GRCm39)	missense	probably damaging	1.00
R7703:Ighv1-18	UTSW	12	114,646,381 (GRCm39)	missense	probably benign	0.23
R7974:Ighv1-18	UTSW	12	114,646,669 (GRCm39)	missense	possibly damaging	0.49
R8486:Ighv1-18	UTSW	12	114,646,325 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

Posted On

2017-04-14