Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02478:Gm20441'

295062

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm20441

Ensembl Gene

ENSMUSG00000092360

Gene Name

predicted gene 20441

Synonyms

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL02478

Quality Score

Status

Chromosome

Chromosomal Location

75607285-75616788 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 75608644 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 26 (A26E)

Ref Sequence

ENSEMBL: ENSMUSP00000134561 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001715] [ENSMUST00000001716] [ENSMUST00000172820] [ENSMUST00000173537] [ENSMUST00000174187]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000001715

SMART Domains

Protein: ENSMUSP00000001715
Gene: ENSMUSG00000001665

Domain	Start	End	E-Value	Type
Pfam:GST_N	1	76	2.2e-13	PFAM
Pfam:GST_N_3	5	82	2.4e-13	PFAM
Pfam:GST_N_2	11	77	6.2e-10	PFAM
Pfam:GST_C	111	201	5e-9	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001716
AA Change: A71E

PolyPhen 2 Score 0.570 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000001716
Gene: ENSMUSG00000001666
AA Change: A71E

Domain	Start	End	E-Value	Type
Pfam:MIF	2	116	8.5e-55	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000133869

SMART Domains

Protein: ENSMUSP00000134134
Gene: ENSMUSG00000001665

Domain	Start	End	E-Value	Type
PDB:2C3T\|D	2	100	3e-52	PDB
SCOP:d1ljra1	6	107	4e-14	SMART
low complexity region	118	134	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000172820
AA Change: A26E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000134561
Gene: ENSMUSG00000001666
AA Change: A26E

Domain	Start	End	E-Value	Type
Pfam:MIF	1	71	3.3e-32	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000173512
AA Change: A209E

SMART Domains

Protein: ENSMUSP00000134112
Gene: ENSMUSG00000092360
AA Change: A209E

Domain	Start	End	E-Value	Type
Pfam:GST_N	2	75	3.2e-13	PFAM
Pfam:GST_N_3	4	81	2.6e-13	PFAM
Pfam:GST_N_2	10	76	6.7e-10	PFAM
Pfam:MIF	159	252	8.5e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173537

SMART Domains

Protein: ENSMUSP00000133498
Gene: ENSMUSG00000001665

Domain	Start	End	E-Value	Type
Pfam:GST_N	3	76	5e-12	PFAM
Pfam:GST_N_3	5	82	1.2e-13	PFAM
Pfam:GST_N_2	11	77	6.1e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174187

SMART Domains

Protein: ENSMUSP00000133576
Gene: ENSMUSG00000001665

Domain	Start	End	E-Value	Type
PDB:2C3T\|D	1	38	7e-16	PDB
SCOP:d1ljra2	1	38	6e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174649

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	C	A	5: 8,856,018 (GRCm39)	A42E	probably damaging	Het
Agmo	T	A	12: 37,451,985 (GRCm39)	F247L	probably damaging	Het
Arap1	C	A	7: 101,049,332 (GRCm39)		probably null	Het
Arid1a	T	C	4: 133,408,585 (GRCm39)	D1974G	unknown	Het
Asxl3	C	T	18: 22,656,070 (GRCm39)	A1360V	possibly damaging	Het
Celsr1	T	A	15: 85,825,337 (GRCm39)	T1599S	possibly damaging	Het
Chrdl2	T	C	7: 99,670,190 (GRCm39)		probably null	Het
Csmd3	T	C	15: 47,701,794 (GRCm39)		probably benign	Het
Dis3l	C	T	9: 64,222,055 (GRCm39)	E452K	probably benign	Het
Dnajc2	A	T	5: 21,981,788 (GRCm39)	H45Q	probably damaging	Het
Eps8	G	A	6: 137,499,840 (GRCm39)	P213L	probably benign	Het
Erbb3	T	A	10: 128,407,227 (GRCm39)	R978*	probably null	Het
Exoc2	A	T	13: 31,111,403 (GRCm39)	C142S	probably benign	Het
Fam184b	T	C	5: 45,695,039 (GRCm39)	E735G	probably damaging	Het
Fancm	T	C	12: 65,123,864 (GRCm39)	V174A	probably damaging	Het
Fat4	T	C	3: 38,942,364 (GRCm39)	L419P	probably damaging	Het
Fsip2	G	T	2: 82,814,736 (GRCm39)	V3490L	probably benign	Het
Ftcd	A	T	10: 76,417,255 (GRCm39)	R255*	probably null	Het
Galc	T	C	12: 98,179,391 (GRCm39)	N506S	possibly damaging	Het
Gm21969	T	G	4: 139,367,999 (GRCm39)		probably null	Het
Ifitm3	T	A	7: 140,589,787 (GRCm39)	M89L	possibly damaging	Het
Ift25	T	A	4: 107,132,449 (GRCm39)	S79T	probably benign	Het
Inmt	T	C	6: 55,150,355 (GRCm39)	E94G	probably damaging	Het
Insrr	G	A	3: 87,716,719 (GRCm39)	G649D	probably benign	Het
Ivd	T	C	2: 118,692,572 (GRCm39)	L24P	probably benign	Het
Kcnc1	A	G	7: 46,084,593 (GRCm39)	N506D	probably benign	Het
Krt39	T	A	11: 99,411,723 (GRCm39)	D121V	probably benign	Het
Lcp1	A	G	14: 75,461,536 (GRCm39)	I510V	probably benign	Het
Mkx	C	T	18: 7,002,418 (GRCm39)	V43M	probably damaging	Het
Mmp2	A	G	8: 93,579,235 (GRCm39)	N108S	possibly damaging	Het
Mob1b	T	C	5: 88,903,947 (GRCm39)		probably benign	Het
Morc3	A	G	16: 93,661,844 (GRCm39)		probably benign	Het
Myh13	T	G	11: 67,260,204 (GRCm39)	S1881A	probably benign	Het
Nalcn	T	C	14: 123,558,717 (GRCm39)	E843G	probably benign	Het
Ngef	A	G	1: 87,408,301 (GRCm39)		probably benign	Het
Or14c40	T	A	7: 86,313,344 (GRCm39)	I158N	probably damaging	Het
Osm	A	G	11: 4,189,507 (GRCm39)	Y97C	probably damaging	Het
Pclo	T	A	5: 14,816,792 (GRCm39)	L4556Q	unknown	Het
Pcyox1l	T	C	18: 61,830,780 (GRCm39)	D364G	probably benign	Het
Plekha6	T	A	1: 133,211,031 (GRCm39)	V467E	probably benign	Het
Qrsl1	A	T	10: 43,758,158 (GRCm39)	S312T	probably damaging	Het
Ripk1	T	A	13: 34,194,572 (GRCm39)	L70Q	probably damaging	Het
Rnaseh1	A	T	12: 28,705,662 (GRCm39)	Y162F	probably damaging	Het
Ror2	T	A	13: 53,275,703 (GRCm39)	T195S	probably damaging	Het
Sh3bp2	T	C	5: 34,709,006 (GRCm39)	L33P	probably damaging	Het
Skil	T	A	3: 31,151,968 (GRCm39)	C163*	probably null	Het
Slc25a37	A	T	14: 69,486,883 (GRCm39)	N133K	probably benign	Het
Slitrk3	A	C	3: 72,958,046 (GRCm39)	V242G	probably damaging	Het
Sra1	A	G	18: 36,801,845 (GRCm39)	S82P	probably benign	Het
Synj2	A	G	17: 6,088,199 (GRCm39)	N1417D	probably benign	Het
Tas2r122	A	G	6: 132,688,578 (GRCm39)	V105A	possibly damaging	Het
Tasor2	T	C	13: 3,624,661 (GRCm39)	E1763G	probably benign	Het
Ttc21b	T	C	2: 66,018,624 (GRCm39)	N1261S	probably benign	Het
Vmn2r69	A	G	7: 85,055,889 (GRCm39)	S750P	probably damaging	Het
Wdr95	A	G	5: 149,519,786 (GRCm39)	T568A	probably benign	Het
Zfp319	T	A	8: 96,055,721 (GRCm39)	I161F	possibly damaging	Het

Other mutations in Gm20441

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03033:Gm20441	APN	10	75,607,326 (GRCm39)	missense	probably damaging	1.00
R0206:Gm20441	UTSW	10	75,608,719 (GRCm39)	start codon destroyed	probably null	0.17

Posted On

2015-04-16