Mutagenetix > Incidental Mutation

Incidental Mutation 'R3434:Fam47e'

266343

Institutional Source

Beutler Lab

Gene Symbol

Fam47e

Ensembl Gene

ENSMUSG00000057068

Gene Name

family with sequence similarity 47, member E

Synonyms

Gm1381, LOC384198

MMRRC Submission

040652-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3434 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

92555069-92591279 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 92585362 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 152 (V152D)

Ref Sequence

ENSEMBL: ENSMUSP00000135051 (fasta)

Gene Model

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

AlphaFold

D3YWC7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000082382
AA Change: V125D

PolyPhen 2 Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000080987
Gene: ENSMUSG00000057068
AA Change: V125D

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000131166
AA Change: V186D

PolyPhen 2 Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000118033
Gene: ENSMUSG00000057068
AA Change: V186D

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

Predicted Effect

probably benign
Transcript: ENSMUST00000146417
AA Change: V328D

PolyPhen 2 Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000115229
Gene: ENSMUSG00000057068
AA Change: V328D

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

probably damaging
Transcript: ENSMUST00000176448
AA Change: V152D

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000176621

Meta Mutation Damage Score

0.2573

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.3%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	G	A	17: 24,289,537 (GRCm38)	A1008V	probably damaging	Het
Adora3	A	G	3: 105,904,915 (GRCm38)	K39R	probably benign	Het
Ankib1	A	G	5: 3,692,760 (GRCm38)	V1085A	probably damaging	Het
Atp7a	G	A	X: 106,094,857 (GRCm38)	R563K	probably benign	Het
Azin1	T	C	15: 38,493,576 (GRCm38)	I268V	probably benign	Het
Carm1	T	C	9: 21,569,473 (GRCm38)	F81S	probably damaging	Het
Ccnjl	A	G	11: 43,579,861 (GRCm38)	Y152C	probably damaging	Het
Chrna3	T	A	9: 55,024,326 (GRCm38)	I61F	possibly damaging	Het
Clca3a2	G	A	3: 144,808,761 (GRCm38)		probably benign	Het
Clstn2	T	A	9: 97,454,715 (GRCm38)	D903V	probably benign	Het
Dpysl3	C	T	18: 43,361,061 (GRCm38)	V70I	probably benign	Het
Drg2	A	T	11: 60,461,392 (GRCm38)	K180*	probably null	Het
Dync2h1	A	C	9: 7,011,236 (GRCm38)	H3659Q	probably benign	Het
Dysf	A	T	6: 84,070,888 (GRCm38)	Y349F	probably benign	Het
Epb41l4b	T	C	4: 57,040,865 (GRCm38)	N533D	probably benign	Het
Fasn	G	A	11: 120,822,773 (GRCm38)	A24V	probably damaging	Het
Fhl4	T	C	10: 85,098,444 (GRCm38)	T158A	probably benign	Het
Fnbp1l	C	T	3: 122,546,306 (GRCm38)	R499Q	probably damaging	Het
Hdlbp	A	T	1: 93,428,161 (GRCm38)	M358K	probably benign	Het
Ift74	A	G	4: 94,621,852 (GRCm38)		probably null	Het
Lhx4	A	G	1: 155,702,401 (GRCm38)	Y332H	probably damaging	Het
Mast2	A	T	4: 116,308,095 (GRCm38)	S1314T	probably benign	Het
Mast4	A	G	13: 102,787,379 (GRCm38)	I508T	probably damaging	Het
Mdn1	T	C	4: 32,733,726 (GRCm38)		probably null	Het
Mrps23	A	G	11: 88,210,114 (GRCm38)	K44E	probably damaging	Het
Mslnl	G	A	17: 25,742,934 (GRCm38)	V128M	probably damaging	Het
Mup6	G	T	4: 60,004,116 (GRCm38)		probably null	Het
Notch3	A	T	17: 32,158,618 (GRCm38)	D161E	possibly damaging	Het
Olfr1131	T	C	2: 87,629,074 (GRCm38)	F204L	probably benign	Het
Olfr1200	T	C	2: 88,768,069 (GRCm38)	D82G	probably damaging	Het
Olfr695	A	T	7: 106,873,769 (GRCm38)	Y159N	probably benign	Het
P2rx4	T	A	5: 122,725,070 (GRCm38)	I202K	probably damaging	Het
Phykpl	A	G	11: 51,598,655 (GRCm38)	T363A	probably benign	Het
Pitpnm1	G	A	19: 4,112,234 (GRCm38)	A1047T	probably damaging	Het
Ppat	A	G	5: 76,918,065 (GRCm38)	I402T	probably damaging	Het
Rpgr	A	G	X: 10,176,602 (GRCm38)	S656P	probably benign	Het
Rsbn1l	T	C	5: 20,905,930 (GRCm38)		probably benign	Het
Sacs	A	G	14: 61,212,303 (GRCm38)	K3933E	probably damaging	Het
Scn7a	T	C	2: 66,675,503 (GRCm38)	I1681V	probably benign	Het
Sel1l3	T	C	5: 53,117,090 (GRCm38)	D1016G	probably benign	Het
Sf3a3	C	A	4: 124,725,077 (GRCm38)	T277N	possibly damaging	Het
Slc35a5	A	G	16: 45,144,033 (GRCm38)	I279T	probably benign	Het
Slc39a10	T	C	1: 46,835,717 (GRCm38)	T142A	probably benign	Het
Tle3	T	A	9: 61,414,094 (GRCm38)		probably null	Het
Tmem117	T	C	15: 95,094,692 (GRCm38)	I411T	probably damaging	Het
Ttn	T	C	2: 76,868,377 (GRCm38)	T5A	possibly damaging	Het
Tubgcp3	T	C	8: 12,658,381 (GRCm38)		probably null	Het
Ush2a	C	T	1: 188,733,758 (GRCm38)	P2841L	probably damaging	Het
Vmn1r209	A	T	13: 22,806,097 (GRCm38)	M141K	probably benign	Het
Vmn2r91	A	T	17: 18,110,108 (GRCm38)		probably benign	Het

Other mutations in Fam47e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00391:Fam47e	APN	5	92,579,663 (GRCm38)	missense	probably damaging	1.00
R0646:Fam47e	UTSW	5	92,578,458 (GRCm38)	intron	probably benign
R1170:Fam47e	UTSW	5	92,565,922 (GRCm38)	splice site	probably benign
R1216:Fam47e	UTSW	5	92,562,484 (GRCm38)	missense	probably damaging	0.99
R1926:Fam47e	UTSW	5	92,585,385 (GRCm38)	missense	possibly damaging	0.61
R3435:Fam47e	UTSW	5	92,585,362 (GRCm38)	missense	probably damaging	0.99
R4899:Fam47e	UTSW	5	92,574,669 (GRCm38)	missense	probably benign	0.23
R4925:Fam47e	UTSW	5	92,585,290 (GRCm38)	missense	probably damaging	1.00
R5885:Fam47e	UTSW	5	92,565,968 (GRCm38)	missense	probably damaging	0.97
R6060:Fam47e	UTSW	5	92,579,613 (GRCm38)	missense	possibly damaging	0.88
R6278:Fam47e	UTSW	5	92,562,517 (GRCm38)	missense	probably damaging	1.00
R6964:Fam47e	UTSW	5	92,566,052 (GRCm38)	missense	probably damaging	1.00
R7661:Fam47e	UTSW	5	92,587,525 (GRCm38)	missense	probably damaging	0.97
R7992:Fam47e	UTSW	5	92,574,682 (GRCm38)	missense	probably damaging	1.00
R8349:Fam47e	UTSW	5	92,555,131 (GRCm38)	missense	probably benign	0.27
R8449:Fam47e	UTSW	5	92,555,131 (GRCm38)	missense	probably benign	0.27
R9058:Fam47e	UTSW	5	92,571,508 (GRCm38)	start gained	probably benign
R9260:Fam47e	UTSW	5	92,587,525 (GRCm38)	missense	probably damaging	0.97
R9595:Fam47e	UTSW	5	92,578,536 (GRCm38)	missense	probably benign	0.00
R9596:Fam47e	UTSW	5	92,578,536 (GRCm38)	missense	probably benign	0.00
R9624:Fam47e	UTSW	5	92,578,536 (GRCm38)	missense	probably benign	0.00
Z1176:Fam47e	UTSW	5	92,579,668 (GRCm38)	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- TCATACCGTGAGCCTTTGATATTTG -3'
(R):5'- AGGCAGAATTCAAGCCTTGC -3'

Sequencing Primer
(F):5'- CCGTGAGCCTTTGATATTTGAAACG -3'
(R):5'- ACATCCTCTCCACAAATCATCTTG -3'

Posted On

2015-02-18