Mutagenetix > Incidental Mutation

Incidental Mutation 'R8550:Ighv5-17'

659836

Institutional Source

Beutler Lab

Gene Symbol

Ighv5-17

Ensembl Gene

ENSMUSG00000095571

Gene Name

immunoglobulin heavy variable 5-17

Synonyms

Gm16609

MMRRC Submission

068515-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.141) question?

Stock #

R8550 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113822769-113823062 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 113822904 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 72 (S72R)

Ref Sequence

ENSEMBL: ENSMUSP00000100240 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103459]

AlphaFold

A0A075B5R1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103459
AA Change: S72R

PolyPhen 2 Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000100240
Gene: ENSMUSG00000095571
AA Change: S72R

Domain	Start	End	E-Value	Type
IGv	36	117	5.67e-35	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (39/39)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402F06Rik	T	A	2: 35,265,786 (GRCm39)	K295*	probably null	Het
AB124611	A	T	9: 21,451,882 (GRCm39)	D146V	probably damaging	Het
Adgrl3	A	T	5: 81,942,599 (GRCm39)	T1469S	possibly damaging	Het
Anxa7	G	A	14: 20,506,593 (GRCm39)	T449M	probably damaging	Het
Birc6	T	G	17: 74,864,949 (GRCm39)	S236R	probably benign	Het
C1qc	C	T	4: 136,617,587 (GRCm39)	V170I	possibly damaging	Het
Ccl25	A	G	8: 4,377,890 (GRCm39)	E50G	possibly damaging	Het
Clk1	A	T	1: 58,451,835 (GRCm39)	Y427N	probably damaging	Het
Cul9	C	A	17: 46,830,772 (GRCm39)	C1707F	probably damaging	Het
Cyp4f17	G	A	17: 32,746,936 (GRCm39)	V413I	probably benign	Het
Ddc	A	G	11: 11,785,743 (GRCm39)	W315R	probably damaging	Het
Degs1l	A	T	1: 180,887,324 (GRCm39)	D303V	probably damaging	Het
Eif1ad15	T	C	12: 88,290,652 (GRCm39)		probably benign	Het
Eogt	A	C	6: 97,089,033 (GRCm39)	H524Q	probably benign	Het
Eya4	G	A	10: 22,982,157 (GRCm39)	H601Y	probably damaging	Het
Hexa	G	A	9: 59,468,182 (GRCm39)	A270T	probably benign	Het
Hmcn2	T	C	2: 31,240,654 (GRCm39)		probably null	Het
Itgad	A	G	7: 127,803,064 (GRCm39)	T7A	probably damaging	Het
Mapk8	A	T	14: 33,124,615 (GRCm39)	I139N	probably damaging	Het
Metap1	G	A	3: 138,172,077 (GRCm39)	A280V	possibly damaging	Het
Mrpl35	T	C	6: 71,793,259 (GRCm39)	K131E	probably damaging	Het
Neb	A	G	2: 52,188,924 (GRCm39)	V802A	probably benign	Het
Nlrp3	T	G	11: 59,440,097 (GRCm39)	V558G	probably damaging	Het
Nr3c1	A	T	18: 39,619,842 (GRCm39)	N148K	possibly damaging	Het
Or3a1c	A	C	11: 74,046,015 (GRCm39)	I12L	probably benign	Het
Padi6	T	C	4: 140,460,014 (GRCm39)	K359R	probably benign	Het
Rexo5	A	G	7: 119,400,568 (GRCm39)	T118A	probably benign	Het
Serpine1	A	G	5: 137,092,352 (GRCm39)	V385A	probably damaging	Het
Slc25a25	A	G	2: 32,306,205 (GRCm39)	I485T	probably damaging	Het
Slc26a3	A	T	12: 31,511,739 (GRCm39)	L441F	probably damaging	Het
Spta1	A	T	1: 174,014,774 (GRCm39)	D418V	probably damaging	Het
Supt20	T	C	3: 54,623,063 (GRCm39)	V511A	possibly damaging	Het
Tfap2a	T	C	13: 40,882,225 (GRCm39)	T21A	probably damaging	Het
Tia1	A	G	6: 86,402,684 (GRCm39)	M232V	probably benign	Het
Tmem132a	T	C	19: 10,837,745 (GRCm39)	T522A	probably benign	Het
Top2a	A	T	11: 98,886,744 (GRCm39)	D1336E	probably benign	Het
Trav3-1	A	C	14: 52,818,390 (GRCm39)	R21S	probably benign	Het
Utrn	C	A	10: 12,689,329 (GRCm39)		probably benign	Het
Vmn1r119	A	T	7: 20,745,980 (GRCm39)	V134D	probably benign	Het
Zfta	T	C	19: 7,400,320 (GRCm39)	M262T	probably benign	Het

Other mutations in Ighv5-17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01948:Ighv5-17	APN	12	113,823,046 (GRCm39)	missense	probably damaging	1.00
IGL02316:Ighv5-17	APN	12	113,822,775 (GRCm39)	nonsense	probably null
IGL03286:Ighv5-17	APN	12	113,822,797 (GRCm39)	missense	possibly damaging	0.92
R3806:Ighv5-17	UTSW	12	113,822,918 (GRCm39)	missense	probably benign	0.10
R5326:Ighv5-17	UTSW	12	113,822,878 (GRCm39)	missense	possibly damaging	0.69
R6137:Ighv5-17	UTSW	12	113,822,915 (GRCm39)	missense	probably benign	0.01
R7289:Ighv5-17	UTSW	12	113,822,858 (GRCm39)	missense	probably damaging	0.99
R9445:Ighv5-17	UTSW	12	113,822,858 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- AGCTTTGTGTTCTCTCAGCG -3'
(R):5'- CAGCATTCTCTGTTTGCAGG -3'

Sequencing Primer
(F):5'- TCCCAAGTGACCTGCAGGAG -3'
(R):5'- CATTCTCTGTTTGCAGGTGTCCAG -3'

Posted On

2021-01-18