Mutagenetix > Incidental Mutations

Incidental Mutation 'R6536:Ifi44'

520397

Institutional Source

Beutler Lab

Gene Symbol

Ifi44

Ensembl Gene

ENSMUSG00000028037

Gene Name

interferon-induced protein 44

Synonyms

A430056A10Rik, p44, MTAP44

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6536 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

151730922-151749960 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 151732489 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 387 (V387A)

Ref Sequence

ENSEMBL: ENSMUSP00000029671 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029671]

AlphaFold

Q8BV66

Predicted Effect

probably benign
Transcript: ENSMUST00000029671
AA Change: V387A

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000029671
Gene: ENSMUSG00000028037
AA Change: V387A

Domain	Start	End	E-Value	Type
Pfam:TLD	26	147	2.8e-7	PFAM
low complexity region	193	208	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149919

Coding Region Coverage

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

Validation Efficiency

100% (36/36)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik2	G	T	11: 49,019,723	H628N	probably benign	Het
Abcb1a	T	A	5: 8,719,030	F751I	probably benign	Het
Adamts13	G	A	2: 26,975,750	V106M	probably damaging	Het
Add1	C	A	5: 34,601,436	N31K	possibly damaging	Het
Adgrf5	G	T	17: 43,422,661		probably benign	Het
Akap11	T	G	14: 78,511,314	D1211A	possibly damaging	Het
Atp5c1	G	A	2: 10,080,316		probably benign	Het
Cd320	T	C	17: 33,847,503	S72P	probably benign	Het
Clca4b	C	A	3: 144,916,729	W525L	possibly damaging	Het
Csmd3	G	A	15: 47,838,467	T1740I	probably damaging	Het
Dnah7c	T	G	1: 46,658,290	S2122A	probably benign	Het
Enpp2	T	C	15: 54,862,631	N583S	probably damaging	Het
Fuk	A	G	8: 110,883,879	V964A	possibly damaging	Het
Gpd2	A	T	2: 57,345,355	I366F	probably benign	Het
Hsd17b2	G	A	8: 117,702,182	V63M	possibly damaging	Het
Hsdl2	A	T	4: 59,610,508		probably null	Het
Idh3b	AG	AGCACCACAACTG	2: 130,279,673		probably null	Het
Kcnc4	T	C	3: 107,448,196	D312G	possibly damaging	Het
Kif1b	T	C	4: 149,192,596	M1337V	probably benign	Het
Klra6	C	T	6: 130,023,719	V41I	probably benign	Het
Lrp1	A	G	10: 127,558,068		probably null	Het
Mpdz	T	C	4: 81,383,417	E257G	probably damaging	Het
Olfr1306	T	C	2: 111,912,774	D52G	possibly damaging	Het
Olfr1420	T	C	19: 11,896,396	V125A	probably benign	Het
Papln	A	G	12: 83,781,887	Y789C	probably damaging	Het
Pcdh15	T	C	10: 74,631,389	L1680P	probably damaging	Het
Pcdhac1	A	G	18: 37,090,314	N60S	probably benign	Het
Polr3g	T	C	13: 81,678,216	N162S	unknown	Het
Pou3f3	A	G	1: 42,698,214	I357V	probably damaging	Het
Sycp2	A	G	2: 178,351,648	S1235P	probably damaging	Het
Tdgf1	A	T	9: 110,944,189		probably null	Het
Tns3	A	T	11: 8,434,531	V1429E	probably damaging	Het
Trim67	T	C	8: 124,794,342	S148P	possibly damaging	Het
Usp49	A	T	17: 47,679,692	I348F	probably damaging	Het
Wac	A	T	18: 7,905,189		probably null	Het
Zfp775	A	G	6: 48,619,609	K139R	probably damaging	Het

Other mutations in Ifi44

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00858:Ifi44	APN	3	151749580	missense	probably benign	0.03
IGL01477:Ifi44	APN	3	151745998	splice site	probably benign
IGL01571:Ifi44	APN	3	151745537	missense	probably damaging	0.97
IGL02165:Ifi44	APN	3	151749430	missense	probably damaging	1.00
IGL02238:Ifi44	APN	3	151732382	makesense	probably null
IGL02609:Ifi44	APN	3	151732497	missense	probably damaging	1.00
IGL02650:Ifi44	APN	3	151745855	missense	probably damaging	1.00
IGL02726:Ifi44	APN	3	151749596	start gained	probably benign
IGL02977:Ifi44	APN	3	151739379	missense	probably benign	0.00
R0201:Ifi44	UTSW	3	151745636	missense	probably damaging	1.00
R0454:Ifi44	UTSW	3	151745497	missense	possibly damaging	0.78
R0763:Ifi44	UTSW	3	151749498	missense	probably damaging	1.00
R1640:Ifi44	UTSW	3	151732534	missense	probably benign	0.00
R1747:Ifi44	UTSW	3	151749285	missense	probably benign	0.00
R2278:Ifi44	UTSW	3	151732388	missense	probably benign
R3816:Ifi44	UTSW	3	151749257	missense	possibly damaging	0.92
R4075:Ifi44	UTSW	3	151745976	missense	probably benign	0.00
R4084:Ifi44	UTSW	3	151745489	critical splice donor site	probably null
R4782:Ifi44	UTSW	3	151745592	missense	probably damaging	0.99
R5071:Ifi44	UTSW	3	151749632	start gained	probably benign
R5074:Ifi44	UTSW	3	151749632	start gained	probably benign
R6030:Ifi44	UTSW	3	151749558	missense	probably benign	0.00
R6030:Ifi44	UTSW	3	151749558	missense	probably benign	0.00
R6128:Ifi44	UTSW	3	151749186	missense	probably benign	0.00
R6192:Ifi44	UTSW	3	151745639	critical splice acceptor site	probably null
R6434:Ifi44	UTSW	3	151749189	missense	probably benign	0.02
R6902:Ifi44	UTSW	3	151745899	missense	possibly damaging	0.92
R6946:Ifi44	UTSW	3	151745899	missense	possibly damaging	0.92
R7346:Ifi44	UTSW	3	151732457	missense	probably benign
R7608:Ifi44	UTSW	3	151732408	missense	probably damaging	0.97
R7704:Ifi44	UTSW	3	151732424	missense	probably benign	0.44
R7971:Ifi44	UTSW	3	151749220	missense	possibly damaging	0.89
R8255:Ifi44	UTSW	3	151745982	missense	probably benign	0.00
R8428:Ifi44	UTSW	3	151739341	nonsense	probably null
R8940:Ifi44	UTSW	3	151749309	missense	probably benign	0.00
R9087:Ifi44	UTSW	3	151745880	missense	probably damaging	1.00
R9259:Ifi44	UTSW	3	151749238	missense	possibly damaging	0.75
R9436:Ifi44	UTSW	3	151749249	missense	probably benign	0.00
Z1176:Ifi44	UTSW	3	151732453	missense	probably damaging	1.00
Z1177:Ifi44	UTSW	3	151749438	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GACCCAGACAAGAATTGGCC -3'
(R):5'- TGATCACCAAGCTCCTAGTTC -3'

Sequencing Primer
(F):5'- GGCCAAGTTGATGATACCGTC -3'
(R):5'- CAAAGATTCTCGCTGAACTTGGAGC -3'

Posted On

2018-06-06