Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00391:Fam47e'

5587

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam47e

Ensembl Gene

ENSMUSG00000057068

Gene Name

family with sequence similarity 47, member E

Synonyms

Gm1381, LOC384198

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00391

Quality Score

Status

Chromosome

Chromosomal Location

92555069-92591279 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 92579663 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 143 (E143D)

Ref Sequence

ENSEMBL: ENSMUSP00000118033 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000082382] [ENSMUST00000131166] [ENSMUST00000146417] [ENSMUST00000175974] [ENSMUST00000176448] [ENSMUST00000176621]

Predicted Effect

probably benign
Transcript: ENSMUST00000082382

SMART Domains

Protein: ENSMUSP00000080987
Gene: ENSMUSG00000057068

Domain	Start	End	E-Value	Type
low complexity region	136	150	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000131166
AA Change: E143D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000118033
Gene: ENSMUSG00000057068
AA Change: E143D

Domain	Start	End	E-Value	Type
low complexity region	197	211	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000146417
AA Change: E285D

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000115229
Gene: ENSMUSG00000057068
AA Change: E285D

Domain	Start	End	E-Value	Type
Pfam:FAM47	17	191	1.7e-31	PFAM
low complexity region	339	353	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000149617

Predicted Effect

probably benign
Transcript: ENSMUST00000175974

Predicted Effect

possibly damaging
Transcript: ENSMUST00000176448
AA Change: E109D

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000176621

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	G	A	5: 81,724,224	V990M	probably damaging	Het
Ap4b1	A	G	3: 103,821,542	T499A	probably benign	Het
Cacna2d4	T	C	6: 119,337,933		probably benign	Het
Ccr5	T	A	9: 124,124,406	D15E	possibly damaging	Het
Clca4b	A	G	3: 144,915,561	V584A	possibly damaging	Het
Cmtr1	T	C	17: 29,674,262	M85T	probably damaging	Het
Col6a3	T	A	1: 90,828,255	H104L	probably damaging	Het
Coq9	A	T	8: 94,850,517	K170M	probably damaging	Het
Elmod1	A	G	9: 53,924,398		probably null	Het
Faxc	A	G	4: 21,948,725	K146E	probably damaging	Het
Gm5346	A	T	8: 43,625,629	F519L	probably damaging	Het
Hrasls5	A	T	19: 7,619,266		probably benign	Het
Myo7b	A	C	18: 32,021,556		probably benign	Het
Nmur1	G	A	1: 86,386,471	R381C	probably damaging	Het
Nsd2	T	G	5: 33,855,733	D469E	probably damaging	Het
Osbpl6	G	A	2: 76,590,439	C786Y	probably damaging	Het
Osgin2	T	C	4: 16,006,439	Y85C	probably damaging	Het
Otof	A	G	5: 30,375,623	C1587R	probably damaging	Het
Plekha2	A	G	8: 25,057,327	V247A	probably damaging	Het
Plppr5	A	T	3: 117,671,943	N281I	possibly damaging	Het
Popdc3	A	G	10: 45,317,826		probably null	Het
Ppp1r12a	A	G	10: 108,198,848	N85D	probably damaging	Het
Serpinb8	A	G	1: 107,606,984	S262G	probably benign	Het
Sspo	G	A	6: 48,497,386	G4780R	probably damaging	Het
Ush2a	A	G	1: 188,916,061	E4621G	probably damaging	Het

Other mutations in Fam47e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0646:Fam47e	UTSW	5	92578458	intron	probably benign
R1170:Fam47e	UTSW	5	92565922	splice site	probably benign
R1216:Fam47e	UTSW	5	92562484	missense	probably damaging	0.99
R1926:Fam47e	UTSW	5	92585385	missense	possibly damaging	0.61
R3434:Fam47e	UTSW	5	92585362	missense	probably damaging	0.99
R3435:Fam47e	UTSW	5	92585362	missense	probably damaging	0.99
R4899:Fam47e	UTSW	5	92574669	missense	probably benign	0.23
R4925:Fam47e	UTSW	5	92585290	missense	probably damaging	1.00
R5885:Fam47e	UTSW	5	92565968	missense	probably damaging	0.97
R6060:Fam47e	UTSW	5	92579613	missense	possibly damaging	0.88
R6278:Fam47e	UTSW	5	92562517	missense	probably damaging	1.00
R6964:Fam47e	UTSW	5	92566052	missense	probably damaging	1.00
R7661:Fam47e	UTSW	5	92587525	missense	probably damaging	0.97
R7992:Fam47e	UTSW	5	92574682	missense	probably damaging	1.00
R8349:Fam47e	UTSW	5	92555131	missense	probably benign	0.27
R8449:Fam47e	UTSW	5	92555131	missense	probably benign	0.27
Z1176:Fam47e	UTSW	5	92579668	missense	possibly damaging	0.86

Posted On

2012-04-20