Mutagenetix > Incidental Mutation

Incidental Mutation 'R0104:Ifrd2'

64150

Institutional Source

Beutler Lab

Gene Symbol

Ifrd2

Ensembl Gene

ENSMUSG00000010048

Gene Name

interferon-related developmental regulator 2

Synonyms

1810034A24Rik, SKMc15

MMRRC Submission

038390-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.162) question?

Stock #

R0104 (G1)

Quality Score

106

Status

Not validated

Chromosome

Chromosomal Location

107587642-107593385 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 107587917 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 10 (L10H)

Ref Sequence

ENSEMBL: ENSMUSP00000141718 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010192] [ENSMUST00000040059] [ENSMUST00000093785] [ENSMUST00000122985] [ENSMUST00000127380] [ENSMUST00000130053] [ENSMUST00000139274] [ENSMUST00000139581] [ENSMUST00000148440] [ENSMUST00000149487] [ENSMUST00000149638] [ENSMUST00000195725]

AlphaFold

Q9D8U0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000010192
AA Change: L10H

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000010192
Gene: ENSMUSG00000010048
AA Change: L10H

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: ENSMUST00000093785

SMART Domains

Protein: ENSMUSP00000091300
Gene: ENSMUSG00000079334

Domain	Start	End	E-Value	Type
internal_repeat_1	2	41	4.95e-7	PROSPERO
internal_repeat_1	40	99	4.95e-7	PROSPERO
Pfam:Acetyltransf_1	144	217	2.1e-12	PFAM
Pfam:Acetyltransf_7	147	218	9.5e-9	PFAM
low complexity region	242	253	N/A	INTRINSIC
low complexity region	261	296	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000122985

SMART Domains

Protein: ENSMUSP00000122807
Gene: ENSMUSG00000079334

Domain	Start	End	E-Value	Type
internal_repeat_1	2	41	2.46e-5	PROSPERO
internal_repeat_1	40	99	2.46e-5	PROSPERO
Pfam:Acetyltransf_1	144	204	3.3e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127380

SMART Domains

Protein: ENSMUSP00000116378
Gene: ENSMUSG00000079334

Domain	Start	End	E-Value	Type
internal_repeat_1	2	41	2.46e-5	PROSPERO
internal_repeat_1	40	99	2.46e-5	PROSPERO
Pfam:Acetyltransf_1	144	204	3.3e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000130053

SMART Domains

Protein: ENSMUSP00000114490
Gene: ENSMUSG00000079334

Domain	Start	End	E-Value	Type
internal_repeat_1	2	41	2.46e-5	PROSPERO
internal_repeat_1	40	99	2.46e-5	PROSPERO
Pfam:Acetyltransf_1	144	204	3.3e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000139274

SMART Domains

Protein: ENSMUSP00000138933
Gene: ENSMUSG00000079334

Domain	Start	End	E-Value	Type
Pfam:Acetyltransf_1	45	105	7.4e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000139581

SMART Domains

Protein: ENSMUSP00000122321
Gene: ENSMUSG00000079334

Domain	Start	End	E-Value	Type
internal_repeat_1	2	41	2.46e-5	PROSPERO
internal_repeat_1	40	99	2.46e-5	PROSPERO
Pfam:Acetyltransf_1	144	204	3.3e-12	PFAM

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

probably benign
Transcript: ENSMUST00000149638

SMART Domains

Protein: ENSMUSP00000139004
Gene: ENSMUSG00000079334

Domain	Start	End	E-Value	Type
Pfam:Acetyltransf_1	45	105	7.4e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162027

Predicted Effect

probably damaging
Transcript: ENSMUST00000195725
AA Change: L10H

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000141718
Gene: ENSMUSG00000010048
AA Change: L10H

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192888

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194932

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193153

Predicted Effect

probably benign
Transcript: ENSMUST00000193140

Predicted Effect

probably benign
Transcript: ENSMUST00000195746

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Dnah5	A	T	15: 28,453,353	E4423D	possibly damaging	Het
Fsip2	A	T	2: 82,978,973	T1879S	possibly damaging	Het
Gm136	G	T	4: 34,746,593	H139Q	possibly damaging	Het
Itpr3	C	A	17: 27,095,992	H704Q	probably benign	Het
Kcng1	A	G	2: 168,269,046	I66T	probably damaging	Het
Kcnv2	T	C	19: 27,323,219	Y157H	probably damaging	Het
Leng8	A	G	7: 4,143,808	D443G	probably damaging	Het
Mlst8	T	C	17: 24,476,117	N264S	possibly damaging	Het
Pcdhb8	A	G	18: 37,355,665	E132G	probably benign	Het
Pmpcb	C	G	5: 21,746,038	S266*	probably null	Het
Prmt7	T	C	8: 106,237,350	I292T	probably damaging	Het
Rif1	T	C	2: 52,110,092	L1186S	possibly damaging	Het
Sox30	A	C	11: 45,981,314	E332A	possibly damaging	Het
Taf2	T	C	15: 55,038,338	D820G	probably benign	Het
Tas2r120	T	A	6: 132,657,846		probably null	Het
Zfp655	T	C	5: 145,244,015	S228P	probably damaging	Het
Zfyve9	C	A	4: 108,718,163	D574Y	probably damaging	Het

Other mutations in Ifrd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01772:Ifrd2	APN	9	107592132	missense	probably benign	0.10
IGL02185:Ifrd2	APN	9	107591091	missense	probably benign	0.01
IGL02737:Ifrd2	APN	9	107592170	missense	probably benign
R2072:Ifrd2	UTSW	9	107592545	missense	probably damaging	1.00
R2850:Ifrd2	UTSW	9	107591709	splice site	probably benign
R3015:Ifrd2	UTSW	9	107590022	missense	probably null	1.00
R3727:Ifrd2	UTSW	9	107591682	nonsense	probably null
R5175:Ifrd2	UTSW	9	107590625	missense	probably damaging	1.00
R5580:Ifrd2	UTSW	9	107592312	missense	probably damaging	1.00
R5593:Ifrd2	UTSW	9	107590175	missense	probably damaging	1.00
R6255:Ifrd2	UTSW	9	107592091	missense	probably damaging	0.99
R6905:Ifrd2	UTSW	9	107587890	start codon destroyed	probably null	0.98
R7414:Ifrd2	UTSW	9	107590171	missense	possibly damaging	0.60
R7532:Ifrd2	UTSW	9	107592522	missense	probably damaging	0.99
R8934:Ifrd2	UTSW	9	107592270	splice site	probably benign
R9369:Ifrd2	UTSW	9	107590603	nonsense	probably null
R9553:Ifrd2	UTSW	9	107591086	missense	possibly damaging	0.78

Predicted Primers

PCR Primer
(F):5'- TTCCCAGCGACCCATTTGACAG -3'
(R):5'- GGTGTGGTTTTCTACCCCAGTAGC -3'

Sequencing Primer
(F):5'- ACCCATTTGACAGGGCGG -3'
(R):5'- CTTAATGCTGGTCAAGTCATCG -3'

Posted On

2013-08-06