Mutagenetix > Incidental Mutation

Incidental Mutation 'R6304:Ifna5'

509190

Institutional Source

Beutler Lab

Gene Symbol

Ifna5

Ensembl Gene

ENSMUSG00000096682

Gene Name

interferon alpha 5

Synonyms

Ifa5

MMRRC Submission

044380-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R6304 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

88753762-88754331 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88754147 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 129 (V129A)

Ref Sequence

ENSEMBL: ENSMUSP00000099868 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102804]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000102804
AA Change: V129A

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000099868
Gene: ENSMUSG00000096682
AA Change: V129A

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
IFabd	58	175	6.97e-74	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apol9b	T	A	15: 77,619,504 (GRCm39)	V100E	probably damaging	Het
Bin3	A	G	14: 70,374,625 (GRCm39)	D218G	possibly damaging	Het
Cbll1	A	G	12: 31,544,588 (GRCm39)		probably null	Het
Cped1	A	T	6: 22,016,922 (GRCm39)	R90S	probably benign	Het
Csmd1	A	T	8: 16,108,688 (GRCm39)	L1905Q	probably damaging	Het
Dnai4	T	C	4: 102,944,553 (GRCm39)	E266G	probably benign	Het
Elapor1	A	C	3: 108,368,572 (GRCm39)	C806W	probably damaging	Het
Etaa1	A	C	11: 17,897,505 (GRCm39)	M204R	probably damaging	Het
G6pc1	A	G	11: 101,258,735 (GRCm39)	D38G	probably damaging	Het
Gramd4	A	G	15: 86,019,120 (GRCm39)	E596G	possibly damaging	Het
Igsf9b	C	T	9: 27,253,871 (GRCm39)	R1354W	probably benign	Het
Kcnh3	T	C	15: 99,124,919 (GRCm39)	V123A	probably benign	Het
Kcnh7	A	T	2: 62,594,960 (GRCm39)	Y703*	probably null	Het
Kdm2b	A	G	5: 123,019,807 (GRCm39)	S260P	probably benign	Het
Kdm6b	G	T	11: 69,295,084 (GRCm39)	T1061K	unknown	Het
Lingo4	G	A	3: 94,310,513 (GRCm39)	G484R	probably damaging	Het
Lpar1	T	C	4: 58,487,013 (GRCm39)	Y86C	probably damaging	Het
Lrrc10b	T	C	19: 10,434,342 (GRCm39)	Q113R	probably benign	Het
Lrrc8c	A	T	5: 105,756,475 (GRCm39)	N750I	probably benign	Het
Miip	T	C	4: 147,947,540 (GRCm39)	M207V	probably benign	Het
Mtcl2	T	C	2: 156,882,684 (GRCm39)	N456S	possibly damaging	Het
Mup4	T	C	4: 59,960,084 (GRCm39)	H60R	possibly damaging	Het
Naip5	C	T	13: 100,359,674 (GRCm39)	A521T	possibly damaging	Het
Nrp2	T	C	1: 62,784,565 (GRCm39)	L238P	probably damaging	Het
Nup155	T	C	15: 8,147,526 (GRCm39)	S262P	probably damaging	Het
Or51k1	G	A	7: 103,661,238 (GRCm39)	L224F	probably damaging	Het
Osbpl3	A	G	6: 50,289,654 (GRCm39)	S604P	probably damaging	Het
Pcdhb6	C	T	18: 37,468,974 (GRCm39)	R632*	probably null	Het
Pcdhb9	T	A	18: 37,534,420 (GRCm39)	V138E	probably damaging	Het
Pclo	A	T	5: 14,727,907 (GRCm39)		probably benign	Het
Phyhipl	A	G	10: 70,395,387 (GRCm39)		probably null	Het
Plcg1	A	G	2: 160,603,383 (GRCm39)	T1185A	possibly damaging	Het
Pomt1	T	A	2: 32,140,802 (GRCm39)	L478Q	probably damaging	Het
Robo2	T	A	16: 73,755,196 (GRCm39)	Y779F	probably damaging	Het
Sesn3	A	T	9: 14,233,857 (GRCm39)		probably null	Het
Sh3gl1	A	T	17: 56,343,431 (GRCm39)	F10Y	probably benign	Het
Spata31h1	T	A	10: 82,126,202 (GRCm39)	K2269N	possibly damaging	Het
Spsb1	C	T	4: 149,991,188 (GRCm39)	V127I	probably benign	Het
Taf4b	T	C	18: 14,940,412 (GRCm39)	I297T	probably damaging	Het
Trim14	C	A	4: 46,522,118 (GRCm39)	M186I	probably benign	Het
Ttn	G	T	2: 76,746,079 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,721,443 (GRCm39)		probably benign	Het
Usp54	T	C	14: 20,611,036 (GRCm39)	D1260G	possibly damaging	Het
Vmn1r3	T	A	4: 3,184,975 (GRCm39)	T111S	probably damaging	Het
Vmn2r51	T	C	7: 9,832,164 (GRCm39)	Q474R	probably benign	Het

Other mutations in Ifna5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02481:Ifna5	APN	4	88,754,327 (GRCm39)	missense	probably benign	0.03
R2567:Ifna5	UTSW	4	88,754,147 (GRCm39)	missense	probably benign	0.03
R3724:Ifna5	UTSW	4	88,754,171 (GRCm39)	missense	probably damaging	1.00
R4982:Ifna5	UTSW	4	88,753,861 (GRCm39)	missense	probably damaging	0.99
R5767:Ifna5	UTSW	4	88,754,036 (GRCm39)	missense	possibly damaging	0.79
R7403:Ifna5	UTSW	4	88,754,110 (GRCm39)	missense	probably benign	0.27
R9016:Ifna5	UTSW	4	88,754,046 (GRCm39)	missense	probably benign
Z1176:Ifna5	UTSW	4	88,754,236 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTTGGATTCCCACAGGAGAAGG -3'
(R):5'- CACACTTTGTCTCAGGACTCAC -3'

Sequencing Primer
(F):5'- CAGCAGATCCAGGAGGCTC -3'
(R):5'- GGACTCACTCCTCCTTGCTCAATC -3'

Posted On

2018-04-02