Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03402:Ifi27l2a'

421468

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ifi27l2a

Ensembl Gene

ENSMUSG00000079017

Gene Name

interferon, alpha-inducible protein 27 like 2A

Synonyms

Ifi27, 2310061N23Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03402

Quality Score

Status

Chromosome

Chromosomal Location

103408426-103409939 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103405772 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 162 (N162K)

Ref Sequence

ENSEMBL: ENSMUSP00000078275 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055071] [ENSMUST00000066701] [ENSMUST00000076702] [ENSMUST00000076788] [ENSMUST00000079294] [ENSMUST00000085065] [ENSMUST00000140838]

AlphaFold

Q8R412

Predicted Effect

probably benign
Transcript: ENSMUST00000055071

SMART Domains

Protein: ENSMUSP00000054698
Gene: ENSMUSG00000079017

Domain	Start	End	E-Value	Type
Pfam:Ifi-6-16	10	88	4.1e-31	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000066701
AA Change: N127K

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000068729
Gene: ENSMUSG00000064215
AA Change: N127K

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC
transmembrane domain	53	75	N/A	INTRINSIC
Pfam:Ifi-6-16	85	167	2.6e-33	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000076702
AA Change: N117K

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000075994
Gene: ENSMUSG00000064215
AA Change: N117K

Domain	Start	End	E-Value	Type
low complexity region	43	59	N/A	INTRINSIC
Pfam:Ifi-6-16	73	157	7.1e-32	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000076788
AA Change: N77K

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000076068
Gene: ENSMUSG00000064215
AA Change: N77K

Domain	Start	End	E-Value	Type
Pfam:Ifi-6-16	35	117	7.2e-32	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000079294
AA Change: N162K

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

SMART Domains

Protein: ENSMUSP00000078275
Gene: ENSMUSG00000064215
AA Change: N162K

Domain	Start	End	E-Value	Type
low complexity region	43	59	N/A	INTRINSIC
Pfam:Ifi-6-16	122	202	8e-33	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000085065
AA Change: N172K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000082142
Gene: ENSMUSG00000064215
AA Change: N172K

Domain	Start	End	E-Value	Type
low complexity region	43	59	N/A	INTRINSIC
Pfam:Ifi-6-16	132	210	1.8e-29	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122905

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153670

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148824

Predicted Effect

probably benign
Transcript: ENSMUST00000140838

SMART Domains

Protein: ENSMUSP00000117403
Gene: ENSMUSG00000064215

Domain	Start	End	E-Value	Type
low complexity region	43	59	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal susceptibility to infection with H1N1 or H7N7 influenza A virus, although sloughing of dead cells into bronchiolar lumen persists somewhat longer after infection than in infected controls. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019A02Rik	T	C	1: 53,216,972 (GRCm39)	H81R	probably benign	Het
Alg10b	A	T	15: 90,112,532 (GRCm39)	K459*	probably null	Het
C8g	A	T	2: 25,388,824 (GRCm39)	*203K	probably null	Het
Cacna1b	T	C	2: 24,652,821 (GRCm39)	E80G	probably damaging	Het
Cdh12	T	A	15: 21,583,826 (GRCm39)	N555K	probably benign	Het
Cenpf	T	A	1: 189,387,273 (GRCm39)	N1669I	probably damaging	Het
Cpsf1	A	G	15: 76,480,203 (GRCm39)		probably null	Het
Ear1	A	G	14: 44,056,575 (GRCm39)	S98P	probably benign	Het
Elfn2	A	T	15: 78,557,670 (GRCm39)	D292E	possibly damaging	Het
Fbxw24	T	C	9: 109,430,316 (GRCm39)	S443G	probably damaging	Het
Fnip2	T	C	3: 79,388,583 (GRCm39)	E716G	possibly damaging	Het
Gabra1	G	T	11: 42,024,345 (GRCm39)	N443K	probably damaging	Het
Grik5	A	T	7: 24,714,894 (GRCm39)	V700E	probably damaging	Het
Myom2	A	T	8: 15,115,731 (GRCm39)	T49S	probably benign	Het
Obsl1	T	C	1: 75,463,443 (GRCm39)	M1750V	probably benign	Het
Or10g9b	A	T	9: 39,917,802 (GRCm39)	W148R	probably benign	Het
Or2l13b	A	T	16: 19,349,667 (GRCm39)	M1K	probably null	Het
Or2y1	A	T	11: 49,385,873 (GRCm39)	H171L	probably benign	Het
Ppp2r5e	A	G	12: 75,511,667 (GRCm39)	V352A	probably damaging	Het
Prkca	T	A	11: 108,231,489 (GRCm39)	Q63L	probably benign	Het
Scgb2b7	A	T	7: 31,404,506 (GRCm39)	C65S	probably damaging	Het
Slfn14	T	C	11: 83,167,139 (GRCm39)	K792R	probably benign	Het
Slfn3	C	T	11: 83,104,257 (GRCm39)	T376M	probably damaging	Het
Snx19	A	T	9: 30,351,430 (GRCm39)	I135F	possibly damaging	Het
Stab2	A	T	10: 86,805,165 (GRCm39)	V271E	probably benign	Het
Trpv1	T	G	11: 73,130,463 (GRCm39)	F190V	possibly damaging	Het
Urb2	T	C	8: 124,756,588 (GRCm39)	V765A	possibly damaging	Het
Vmn2r61	A	G	7: 41,909,679 (GRCm39)	H68R	probably benign	Het
Vps8	T	C	16: 21,267,148 (GRCm39)	I177T	possibly damaging	Het
Zfp810	A	C	9: 22,190,441 (GRCm39)		probably null	Het

Other mutations in Ifi27l2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01114:Ifi27l2a	APN	12	103,403,792 (GRCm39)	unclassified	probably benign
IGL01872:Ifi27l2a	APN	12	103,401,719 (GRCm39)	missense	probably damaging	0.99
IGL03061:Ifi27l2a	APN	12	103,401,803 (GRCm39)	missense	possibly damaging	0.85
R0924:Ifi27l2a	UTSW	12	103,408,639 (GRCm39)	missense	probably damaging	0.99
R1428:Ifi27l2a	UTSW	12	103,409,093 (GRCm39)	unclassified	probably benign
R1712:Ifi27l2a	UTSW	12	103,406,202 (GRCm39)	splice site	probably null
R1763:Ifi27l2a	UTSW	12	103,403,941 (GRCm39)	missense	possibly damaging	0.80
R6883:Ifi27l2a	UTSW	12	103,409,756 (GRCm39)	unclassified	probably benign
R8325:Ifi27l2a	UTSW	12	103,409,144 (GRCm39)	missense	unknown
R8868:Ifi27l2a	UTSW	12	103,402,899 (GRCm39)	missense	possibly damaging	0.93
R9149:Ifi27l2a	UTSW	12	103,405,678 (GRCm39)	missense	possibly damaging	0.92

Posted On

2016-08-02