Mutagenetix > Incidental Mutation

Incidental Mutation 'R5175:Ifrd2'

399171

Institutional Source

Beutler Lab

Gene Symbol

Ifrd2

Ensembl Gene

ENSMUSG00000010048

Gene Name

interferon-related developmental regulator 2

Synonyms

1810034A24Rik, SKMc15

MMRRC Submission

042755-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.224) question?

Stock #

R5175 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

107464917-107470237 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107467824 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 170 (L170P)

Ref Sequence

ENSEMBL: ENSMUSP00000010192 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010192] [ENSMUST00000040059] [ENSMUST00000148440] [ENSMUST00000149487] [ENSMUST00000195725]

AlphaFold

Q9D8U0

Predicted Effect

probably damaging
Transcript: ENSMUST00000010192
AA Change: L170P

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

SMART Domains

Protein: ENSMUSP00000010192
Gene: ENSMUSG00000010048
AA Change: L170P

Domain	Start	End	E-Value	Type
low complexity region	11	22	N/A	INTRINSIC
Pfam:IFRD	31	340	7.3e-101	PFAM
Pfam:IFRD_C	385	438	1.1e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000040059

SMART Domains

Protein: ENSMUSP00000042667
Gene: ENSMUSG00000036091

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:Glyco_hydro_56	25	354	4.8e-122	PFAM
EGF	356	408	2.9e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000148440

SMART Domains

Protein: ENSMUSP00000119499
Gene: ENSMUSG00000036091

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_56	21	355	2.6e-127	PFAM
EGF	356	408	2.9e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000149487

SMART Domains

Protein: ENSMUSP00000117845
Gene: ENSMUSG00000036091

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_56	21	301	4.9e-103	PFAM
Pfam:Glyco_hydro_56	291	325	6.9e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162027

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191791

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192888

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193153

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194932

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192996

Predicted Effect

probably benign
Transcript: ENSMUST00000195746

Predicted Effect

probably benign
Transcript: ENSMUST00000195725

SMART Domains

Protein: ENSMUSP00000141718
Gene: ENSMUSG00000010048

Domain	Start	End	E-Value	Type
low complexity region	11	22	N/A	INTRINSIC
Pfam:IFRD	32	139	5.7e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000193140

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr2	A	C	11: 20,030,114 (GRCm39)	M215R	probably benign	Het
Ago2	A	T	15: 72,996,067 (GRCm39)	I354K	possibly damaging	Het
Angel2	T	A	1: 190,673,081 (GRCm39)	C72*	probably null	Het
Ank2	T	A	3: 126,797,673 (GRCm39)	H679L	probably damaging	Het
Anks1	A	T	17: 28,261,562 (GRCm39)	Q694L	probably damaging	Het
Aox3	C	T	1: 58,211,487 (GRCm39)	P1015S	probably benign	Het
Arhgap35	C	A	7: 16,296,524 (GRCm39)	R847L	probably damaging	Het
Bag4	C	A	8: 26,258,379 (GRCm39)	C316F	probably damaging	Het
Camkv	T	A	9: 107,824,581 (GRCm39)	I258N	probably damaging	Het
Cpt1c	G	A	7: 44,620,781 (GRCm39)	A28V	probably damaging	Het
Cyp2j13	A	T	4: 95,956,452 (GRCm39)	M219K	possibly damaging	Het
Dclk1	G	T	3: 55,154,648 (GRCm39)	R26L	possibly damaging	Het
Diras2	A	T	13: 52,662,007 (GRCm39)	I100N	probably damaging	Het
Dnah5	T	A	15: 28,448,550 (GRCm39)	N4204K	probably damaging	Het
Dnase1l3	T	A	14: 7,987,386 (GRCm38)	K55*	probably null	Het
Dusp6	A	G	10: 99,099,864 (GRCm39)	D104G	possibly damaging	Het
Eif5b	A	G	1: 38,084,468 (GRCm39)	T819A	probably damaging	Het
Elfn2	A	T	15: 78,558,073 (GRCm39)	L158H	probably damaging	Het
Erp44	T	C	4: 48,196,823 (GRCm39)	T367A	probably benign	Het
Fasn	A	T	11: 120,707,195 (GRCm39)	D843E	probably benign	Het
Fbxw25	T	C	9: 109,493,631 (GRCm39)	Y20C	probably damaging	Het
Fer1l6	G	A	15: 58,422,126 (GRCm39)	G108E	probably damaging	Het
Fndc7	C	T	3: 108,776,482 (GRCm39)	V520I	probably benign	Het
Gm17019	A	G	5: 15,082,817 (GRCm39)	W46R	possibly damaging	Het
Gorab	G	T	1: 163,214,214 (GRCm39)	Q239K	probably damaging	Het
Gsdma2	A	G	11: 98,543,438 (GRCm39)	T76A	probably benign	Het
Hnrnpll	A	C	17: 80,341,499 (GRCm39)	C513W	possibly damaging	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Kcnma1	A	G	14: 23,386,106 (GRCm39)		probably null	Het
Kcnn3	T	C	3: 89,516,746 (GRCm39)	F385S	probably damaging	Het
Kif18a	T	G	2: 109,133,323 (GRCm39)		probably null	Het
Llgl2	A	G	11: 115,741,547 (GRCm39)	K559R	probably damaging	Het
Lrrc8a	T	C	2: 30,145,524 (GRCm39)	C113R	probably damaging	Het
Mgat5	A	G	1: 127,387,649 (GRCm39)	N535S	probably damaging	Het
Myh15	T	G	16: 48,889,789 (GRCm39)	W127G	possibly damaging	Het
Npsr1	A	G	9: 24,046,111 (GRCm39)	R77G	probably benign	Het
Nub1	T	A	5: 24,907,446 (GRCm39)	S376R	probably benign	Het
Or14c44	T	C	7: 86,062,254 (GRCm39)	V228A	probably benign	Het
Or4d10c	G	A	19: 12,065,926 (GRCm39)	P77S	probably damaging	Het
Or4k47	A	T	2: 111,451,771 (GRCm39)	I216N	possibly damaging	Het
Or5al6	T	C	2: 85,976,301 (GRCm39)	Y259C	probably damaging	Het
Or9i2	G	A	19: 13,815,680 (GRCm39)	P286S	probably damaging	Het
Pcdh9	A	G	14: 94,125,879 (GRCm39)	L97P	probably damaging	Het
Pkn2	A	G	3: 142,504,684 (GRCm39)	Y831H	probably damaging	Het
Plcz1	T	G	6: 139,985,389 (GRCm39)	I51L	possibly damaging	Het
Plekhg1	T	C	10: 3,915,516 (GRCm39)		probably benign	Het
Prdm9	A	T	17: 15,777,713 (GRCm39)	S124T	probably benign	Het
Prkag1	A	C	15: 98,713,596 (GRCm39)	V33G	possibly damaging	Het
Rab25	T	A	3: 88,450,728 (GRCm39)	Y57F	possibly damaging	Het
Rb1cc1	A	G	1: 6,318,545 (GRCm39)	I638V	probably benign	Het
Rest	C	A	5: 77,416,219 (GRCm39)	D144E	probably damaging	Het
Rpa2	A	G	4: 132,505,151 (GRCm39)	D260G	probably damaging	Het
Sf3b3	A	G	8: 111,560,467 (GRCm39)	V425A	probably benign	Het
Sidt2	A	T	9: 45,863,086 (GRCm39)	M15K	probably damaging	Het
Slc22a17	A	G	14: 55,144,748 (GRCm39)	L555P	probably damaging	Het
Smoc2	A	G	17: 14,595,719 (GRCm39)	D282G	possibly damaging	Het
Sorcs3	G	A	19: 48,748,284 (GRCm39)		probably null	Het
Spmap2l	C	T	5: 77,164,317 (GRCm39)	P107S	probably benign	Het
Srcin1	A	G	11: 97,464,703 (GRCm39)	W15R	probably damaging	Het
Stra6l	A	G	4: 45,870,860 (GRCm39)	T259A	probably benign	Het
Ube3a	T	C	7: 58,938,465 (GRCm39)	F741S	probably damaging	Het
Vasp	C	A	7: 18,998,594 (GRCm39)	M54I	probably benign	Het
Vmn1r174	A	T	7: 23,454,153 (GRCm39)	H273L	probably benign	Het
Vmn2r50	T	A	7: 9,771,644 (GRCm39)	I686F	probably damaging	Het
Vmn2r76	T	C	7: 85,877,915 (GRCm39)	E494G	probably benign	Het
Zfp788	A	G	7: 41,298,753 (GRCm39)	E443G	probably damaging	Het

Other mutations in Ifrd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01772:Ifrd2	APN	9	107,469,331 (GRCm39)	missense	probably benign	0.10
IGL02185:Ifrd2	APN	9	107,468,290 (GRCm39)	missense	probably benign	0.01
IGL02737:Ifrd2	APN	9	107,469,369 (GRCm39)	missense	probably benign
R0104:Ifrd2	UTSW	9	107,465,116 (GRCm39)	missense	probably damaging	0.98
R2072:Ifrd2	UTSW	9	107,469,744 (GRCm39)	missense	probably damaging	1.00
R2850:Ifrd2	UTSW	9	107,468,908 (GRCm39)	splice site	probably benign
R3015:Ifrd2	UTSW	9	107,467,221 (GRCm39)	missense	probably null	1.00
R3727:Ifrd2	UTSW	9	107,468,881 (GRCm39)	nonsense	probably null
R5580:Ifrd2	UTSW	9	107,469,511 (GRCm39)	missense	probably damaging	1.00
R5593:Ifrd2	UTSW	9	107,467,374 (GRCm39)	missense	probably damaging	1.00
R6255:Ifrd2	UTSW	9	107,469,290 (GRCm39)	missense	probably damaging	0.99
R6905:Ifrd2	UTSW	9	107,465,089 (GRCm39)	start codon destroyed	probably null	0.98
R7414:Ifrd2	UTSW	9	107,467,370 (GRCm39)	missense	possibly damaging	0.60
R7532:Ifrd2	UTSW	9	107,469,721 (GRCm39)	missense	probably damaging	0.99
R8934:Ifrd2	UTSW	9	107,469,469 (GRCm39)	splice site	probably benign
R9369:Ifrd2	UTSW	9	107,467,802 (GRCm39)	nonsense	probably null
R9553:Ifrd2	UTSW	9	107,468,285 (GRCm39)	missense	possibly damaging	0.78

Predicted Primers

PCR Primer
(F):5'- GCCCTGGAAAAGTGCCTTAAG -3'
(R):5'- GAGCAGAAGCACACTGTTGG -3'

Sequencing Primer
(F):5'- CCTTAAGAAAGGTCGATTCCTGG -3'
(R):5'- GCACACTGTTGGAAAGAGGAC -3'

Posted On

2016-07-06