Mutagenetix > Incidental Mutation

Incidental Mutation 'R4172:Ighv7-4'

318190

Institutional Source

Beutler Lab

Gene Symbol

Ighv7-4

Ensembl Gene

ENSMUSG00000076668

Gene Name

immunoglobulin heavy variable 7-4

Synonyms

Gm16839

MMRRC Submission

044391-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R4172 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

114186408-114186874 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 114186635 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 46 (F46I)

Ref Sequence

ENSEMBL: ENSMUSP00000142041 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103477] [ENSMUST00000192499]

AlphaFold

A0A075B5S5

Predicted Effect

probably damaging
Transcript: ENSMUST00000103477
AA Change: F45I

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

SMART Domains

Protein: ENSMUSP00000100258
Gene: ENSMUSG00000076668
AA Change: F45I

Domain	Start	End	E-Value	Type
IGv	35	118	1.18e-32	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000192499
AA Change: F46I

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

SMART Domains

Protein: ENSMUSP00000142041
Gene: ENSMUSG00000076668
AA Change: F46I

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGv	36	119	4.9e-35	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akip1	C	T	7: 109,306,716 (GRCm39)	Q138*	probably null	Het
Cdc5l	A	G	17: 45,730,698 (GRCm39)	I196T	probably damaging	Het
Dnah7b	G	T	1: 46,266,106 (GRCm39)	R2225L	probably damaging	Het
Gfra2	C	A	14: 71,133,521 (GRCm39)	T117K	possibly damaging	Het
Gle1	T	C	2: 29,828,538 (GRCm39)	I120T	probably benign	Het
Guf1	T	A	5: 69,715,572 (GRCm39)	N52K	possibly damaging	Het
Helq	T	C	5: 100,919,713 (GRCm39)	K813E	probably benign	Het
Il6st	G	A	13: 112,631,861 (GRCm39)	D467N	probably benign	Het
Jak1	C	A	4: 101,016,329 (GRCm39)	V812L	probably benign	Het
Kank4	G	T	4: 98,667,358 (GRCm39)	T363K	probably damaging	Het
Lcat	C	A	8: 106,669,059 (GRCm39)	W72L	possibly damaging	Het
Map2	T	C	1: 66,452,759 (GRCm39)	S392P	possibly damaging	Het
Mtmr2	T	C	9: 13,711,358 (GRCm39)	F456L	probably damaging	Het
Myh8	A	T	11: 67,183,247 (GRCm39)	R709W	probably damaging	Het
Nop14	T	C	5: 34,807,951 (GRCm39)	N337S	probably damaging	Het
Npbwr1	A	G	1: 5,987,155 (GRCm39)	Y120H	probably damaging	Het
Or4c58	T	G	2: 89,675,122 (GRCm39)	D65A	probably damaging	Het
Oxsm	A	T	14: 16,242,079 (GRCm38)	V230E	probably damaging	Het
Paox	G	A	7: 139,713,941 (GRCm39)	G234R	probably damaging	Het
Polq	C	T	16: 36,881,120 (GRCm39)	H1095Y	probably benign	Het
Rad51c	T	C	11: 87,293,572 (GRCm39)	T77A	probably damaging	Het
Ryr3	C	A	2: 112,624,815 (GRCm39)	V2202F	probably damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Snx27	T	C	3: 94,410,794 (GRCm39)	H452R	probably benign	Het
Son	C	T	16: 91,456,250 (GRCm39)	H1666Y	probably damaging	Het
Spata25	C	A	2: 164,669,408 (GRCm39)	W201L	possibly damaging	Het
Spint2	A	G	7: 28,963,097 (GRCm39)	V67A	probably damaging	Het
Srgap1	T	C	10: 121,691,268 (GRCm39)	Y322C	probably benign	Het
Synm	T	C	7: 67,385,109 (GRCm39)	Y409C	probably damaging	Het
Tex11	C	A	X: 99,977,021 (GRCm39)	A487S	possibly damaging	Het
Tpm1	T	C	9: 66,930,649 (GRCm39)	N283D	probably benign	Het
Trpv6	T	C	6: 41,602,432 (GRCm39)	D318G	probably damaging	Het
Ube2j2	A	G	4: 156,033,543 (GRCm39)	D39G	probably damaging	Het
Ubr1	C	T	2: 120,777,103 (GRCm39)		probably null	Het
Vwa5a	T	C	9: 38,635,166 (GRCm39)	F224L	probably damaging	Het
Zfp445	T	A	9: 122,681,002 (GRCm39)	M980L	probably benign	Het

Other mutations in Ighv7-4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01116:Ighv7-4	APN	12	114,186,653 (GRCm39)	missense	probably damaging	1.00
G1patch:Ighv7-4	UTSW	12	114,186,489 (GRCm39)	missense	probably damaging	1.00
R4801:Ighv7-4	UTSW	12	114,186,899 (GRCm39)	start gained	probably benign
R4802:Ighv7-4	UTSW	12	114,186,899 (GRCm39)	start gained	probably benign
R6193:Ighv7-4	UTSW	12	114,186,445 (GRCm39)	missense	possibly damaging	0.82
R6540:Ighv7-4	UTSW	12	114,186,470 (GRCm39)	missense	possibly damaging	0.49
R6725:Ighv7-4	UTSW	12	114,186,489 (GRCm39)	missense	probably damaging	1.00
R9473:Ighv7-4	UTSW	12	114,186,722 (GRCm39)	missense	probably benign
R9488:Ighv7-4	UTSW	12	114,186,619 (GRCm39)	missense	probably damaging	1.00
Z1088:Ighv7-4	UTSW	12	114,186,517 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCCTCAGGGTGTTCATTTG -3'
(R):5'- ACCATGAAGTTGTGGGTGAACTG -3'

Sequencing Primer
(F):5'- CCCTCAGGGTGTTCATTTGAAGATAG -3'
(R):5'- GTGAACTGGATTCTACTTGTAGCAC -3'

Posted On

2015-06-10