Mutagenetix > Incidental Mutation

Incidental Mutation 'R9595:Fam47e'

723210

Institutional Source

Beutler Lab

Gene Symbol

Fam47e

Ensembl Gene

ENSMUSG00000057068

Gene Name

family with sequence similarity 47, member E

Synonyms

LOC384198, Gm1381

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9595 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

92702928-92739138 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 92726395 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Proline at position 111 (R111P)

Ref Sequence

ENSEMBL: ENSMUSP00000118033 (fasta)

Gene Model

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

AlphaFold

D3YWC7

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 benign
Transcript: ENSMUST00000131166
AA Change: R111P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000118033
Gene: ENSMUSG00000057068
AA Change: R111P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000146417
AA Change: R253P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000115229
Gene: ENSMUSG00000057068
AA Change: R253P

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 benign
Transcript: ENSMUST00000176448

Predicted Effect

probably benign
Transcript: ENSMUST00000176621

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,464,566 (GRCm39)	M921T	probably benign	Het
Ankrd33	T	C	15: 101,013,785 (GRCm39)		probably null	Het
Azin2	A	G	4: 128,853,617 (GRCm39)	V80A	probably benign	Het
Capza3	A	T	6: 139,987,712 (GRCm39)	I104F	probably benign	Het
Cd177	A	G	7: 24,451,762 (GRCm39)	L418P	probably damaging	Het
Cd86	A	T	16: 36,441,275 (GRCm39)	V64D	probably damaging	Het
Cfap65	A	G	1: 74,946,537 (GRCm39)	S1352P	probably damaging	Het
Chst10	C	A	1: 38,913,029 (GRCm39)		probably null	Het
Cyp2j13	G	T	4: 95,933,797 (GRCm39)	C362*	probably null	Het
Ddn	T	C	15: 98,705,577 (GRCm39)	T40A	possibly damaging	Het
Dennd2b	C	T	7: 109,155,973 (GRCm39)	R259Q	probably damaging	Het
Fermt3	C	T	19: 6,979,619 (GRCm39)	V505M	probably damaging	Het
Flnc	A	G	6: 29,433,720 (GRCm39)	H88R	probably benign	Het
Glyat	A	G	19: 12,623,728 (GRCm39)	D48G	probably damaging	Het
Hdac5	A	G	11: 102,096,129 (GRCm39)	V348A	probably benign	Het
Ighv2-3	T	C	12: 113,575,084 (GRCm39)	K24E	probably benign	Het
Iglv1	A	G	16: 18,903,948 (GRCm39)	V57A	possibly damaging	Het
Il16	G	T	7: 83,322,273 (GRCm39)	Y347*	probably null	Het
Il20rb	G	A	9: 100,368,311 (GRCm39)	T24M	possibly damaging	Het
Itgae	A	G	11: 73,016,182 (GRCm39)	D797G	probably damaging	Het
Lrrc37a	T	A	11: 103,392,552 (GRCm39)	T958S	probably benign	Het
Mall	G	T	2: 127,571,751 (GRCm39)	Y12*	probably null	Het
N4bp3	C	T	11: 51,536,932 (GRCm39)	R47Q	probably damaging	Het
Nacad	T	C	11: 6,551,790 (GRCm39)	D467G	probably damaging	Het
Or12k8	C	A	2: 36,975,204 (GRCm39)	K185N	possibly damaging	Het
Or13a18	T	C	7: 140,190,939 (GRCm39)	S279P	probably damaging	Het
Or1af1	T	A	2: 37,110,281 (GRCm39)	I260N	probably damaging	Het
Or4f61	T	C	2: 111,922,375 (GRCm39)	T224A	probably damaging	Het
Or7a40	G	A	16: 16,491,470 (GRCm39)	A125V	probably damaging	Het
Or7e177	A	G	9: 20,211,661 (GRCm39)	N56S	probably damaging	Het
Osbpl8	A	G	10: 111,108,909 (GRCm39)	E397G	probably damaging	Het
Pcmt1	A	T	10: 7,524,817 (GRCm39)	I111K	possibly damaging	Het
Pcnx1	T	A	12: 81,965,688 (GRCm39)	H90Q		Het
Pde4dip	C	T	3: 97,602,207 (GRCm39)		probably null	Het
Peli2	T	A	14: 48,493,846 (GRCm39)	V356D	probably damaging	Het
Phyhipl	G	T	10: 70,395,512 (GRCm39)	C231*	probably null	Het
Pirb	A	T	7: 3,722,406 (GRCm39)	S146T	possibly damaging	Het
Rac1	G	A	5: 143,513,643 (GRCm39)		probably benign	Het
Sh3glb2	C	T	2: 30,236,672 (GRCm39)	R230Q	probably damaging	Het
Slc38a8	C	A	8: 120,209,403 (GRCm39)	C390F	probably benign	Het
Slc39a8	G	T	3: 135,592,688 (GRCm39)	L454F	possibly damaging	Het
Slit1	A	C	19: 41,637,851 (GRCm39)	I314S	probably damaging	Het
Son	T	G	16: 91,454,241 (GRCm39)	M996R	possibly damaging	Het
Sp4	A	G	12: 118,262,690 (GRCm39)	V452A	possibly damaging	Het
Tmf1	C	T	6: 97,135,457 (GRCm39)	D940N	probably damaging	Het
Tns3	G	A	11: 8,401,142 (GRCm39)	T1052M	possibly damaging	Het
Trim33	C	T	3: 103,259,350 (GRCm39)	P1013L	probably damaging	Het
Vmn1r175	A	T	7: 23,508,508 (GRCm39)	S40T	probably damaging	Het
Vmn1r43	G	A	6: 89,846,877 (GRCm39)	T203M	probably damaging	Het
Wdr49	C	T	3: 75,265,747 (GRCm39)	C233Y	probably damaging	Het
Wrn	T	C	8: 33,758,961 (GRCm39)	E999G	probably benign	Het
Yju2b	C	T	8: 84,988,400 (GRCm39)	V76I	probably damaging	Het
Zfp142	A	T	1: 74,611,462 (GRCm39)	C778S	probably damaging	Het

Other mutations in Fam47e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00391:Fam47e	APN	5	92,727,522 (GRCm39)	missense	probably damaging	1.00
R0646:Fam47e	UTSW	5	92,726,317 (GRCm39)	intron	probably benign
R1170:Fam47e	UTSW	5	92,713,781 (GRCm39)	splice site	probably benign
R1216:Fam47e	UTSW	5	92,710,343 (GRCm39)	missense	probably damaging	0.99
R1926:Fam47e	UTSW	5	92,733,244 (GRCm39)	missense	possibly damaging	0.61
R3434:Fam47e	UTSW	5	92,733,221 (GRCm39)	missense	probably damaging	0.99
R3435:Fam47e	UTSW	5	92,733,221 (GRCm39)	missense	probably damaging	0.99
R4899:Fam47e	UTSW	5	92,722,528 (GRCm39)	missense	probably benign	0.23
R4925:Fam47e	UTSW	5	92,733,149 (GRCm39)	missense	probably damaging	1.00
R5885:Fam47e	UTSW	5	92,713,827 (GRCm39)	missense	probably damaging	0.97
R6060:Fam47e	UTSW	5	92,727,472 (GRCm39)	missense	possibly damaging	0.88
R6278:Fam47e	UTSW	5	92,710,376 (GRCm39)	missense	probably damaging	1.00
R6964:Fam47e	UTSW	5	92,713,911 (GRCm39)	missense	probably damaging	1.00
R7661:Fam47e	UTSW	5	92,735,384 (GRCm39)	missense	probably damaging	0.97
R7992:Fam47e	UTSW	5	92,722,541 (GRCm39)	missense	probably damaging	1.00
R8349:Fam47e	UTSW	5	92,702,990 (GRCm39)	missense	probably benign	0.27
R8449:Fam47e	UTSW	5	92,702,990 (GRCm39)	missense	probably benign	0.27
R9058:Fam47e	UTSW	5	92,719,367 (GRCm39)	start gained	probably benign
R9260:Fam47e	UTSW	5	92,735,384 (GRCm39)	missense	probably damaging	0.97
R9596:Fam47e	UTSW	5	92,726,395 (GRCm39)	missense	probably benign	0.00
R9624:Fam47e	UTSW	5	92,726,395 (GRCm39)	missense	probably benign	0.00
Z1176:Fam47e	UTSW	5	92,727,527 (GRCm39)	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- ATTACCTGTCCTCCCGAGTG -3'
(R):5'- TTTGAAAAGCCAGAGTCCCAG -3'

Sequencing Primer
(F):5'- TGGCCAACACTTCCTGCG -3'
(R):5'- CCAGAATTCAAGAACGTTTAAAGC -3'

Posted On

2022-08-09