Mutagenetix > Incidental Mutation

Incidental Mutation 'R0129:Fam49a'

21582

Institutional Source

Beutler Lab

Gene Symbol

Fam49a

Ensembl Gene

ENSMUSG00000020589

Gene Name

family with sequence similarity 49, member A

Synonyms

2410157M17Rik, D12Ertd553e

MMRRC Submission

038414-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.409) question?

Stock #

R0129 (G1)

Quality Score

211

Status

Validated (trace)

Chromosome

Chromosomal Location

12262139-12380965 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 12362349 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 204 (T204I)

Ref Sequence

ENSEMBL: ENSMUSP00000152252 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069005] [ENSMUST00000069066] [ENSMUST00000223061]

AlphaFold

Q8BHZ0

Predicted Effect

probably damaging
Transcript: ENSMUST00000069005
AA Change: T204I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000068125
Gene: ENSMUSG00000020589
AA Change: T204I

Domain	Start	End	E-Value	Type
Pfam:DUF1394	17	319	2.1e-150	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000069066
AA Change: T204I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000065613
Gene: ENSMUSG00000020589
AA Change: T204I

Domain	Start	End	E-Value	Type
Pfam:DUF1394	15	319	1.9e-180	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220545

Predicted Effect

probably damaging
Transcript: ENSMUST00000223061
AA Change: T204I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Meta Mutation Damage Score

0.8498

Coding Region Coverage

1x: 99.1%
3x: 97.7%
10x: 92.2%
20x: 74.4%

Validation Efficiency

100% (80/80)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa2	A	G	18: 74,787,194	D31G	probably damaging	Het
Actr2	A	G	11: 20,100,939		probably benign	Het
Adcy8	A	G	15: 64,747,013	C764R	probably benign	Het
Ago4	A	C	4: 126,517,183	F171C	possibly damaging	Het
Akt2	T	C	7: 27,636,970	F408S	probably damaging	Het
Ankrd24	T	C	10: 81,638,329	L26P	probably damaging	Het
Appl1	A	T	14: 26,928,643	M524K	probably damaging	Het
Arhgef11	T	A	3: 87,728,063	I922N	probably damaging	Het
Atp5h	T	C	11: 115,417,918	E47G	probably damaging	Het
Birc6	A	G	17: 74,528,760	D70G	probably benign	Het
Bola2	G	A	7: 126,696,559	V56M	probably damaging	Het
Ccdc151	G	T	9: 21,993,552	R313S	probably damaging	Het
Cd300lg	A	G	11: 102,054,092		probably null	Het
Cdc42bpb	A	G	12: 111,304,959		probably benign	Het
Ceacam20	A	G	7: 19,976,260	N403S	probably damaging	Het
Cenpf	T	C	1: 189,659,650	M662V	probably benign	Het
Chd3	C	A	11: 69,348,501	E1607*	probably null	Het
Chtf18	A	T	17: 25,727,311	Y9*	probably null	Het
Clta	A	G	4: 44,032,424	N200S	probably benign	Het
Csmd1	G	A	8: 16,079,942	S1722F	possibly damaging	Het
Dennd4a	T	C	9: 64,893,294	S905P	probably damaging	Het
Dhx57	T	C	17: 80,238,914	K1347R	probably damaging	Het
Dmc1	A	T	15: 79,596,240		probably benign	Het
Dnhd1	G	T	7: 105,720,924	A4519S	probably benign	Het
Dnmbp	A	G	19: 43,850,027	C1120R	probably benign	Het
Efs	C	T	14: 54,917,223	A427T	probably damaging	Het
Erich6	T	C	3: 58,624,378	E399G	probably damaging	Het
Espl1	A	G	15: 102,316,648	T1431A	probably benign	Het
Fam184b	A	G	5: 45,532,778	S830P	probably damaging	Het
Herc1	T	A	9: 66,448,075	C2203S	probably damaging	Het
Itpr1	G	A	6: 108,349,676	V120M	probably damaging	Het
Kcnh7	G	A	2: 62,716,159	T1026I	probably benign	Het
Kif1b	A	G	4: 149,261,201	I394T	probably benign	Het
Ldlrap1	A	C	4: 134,757,422	V87G	probably damaging	Het
Lgals12	C	T	19: 7,603,038	V155I	probably damaging	Het
Limch1	A	T	5: 66,959,590	N116I	probably damaging	Het
Lonp2	C	T	8: 86,634,890	R232C	probably damaging	Het
Lrch1	C	A	14: 74,835,746	C151F	probably benign	Het
Lrig3	A	G	10: 126,006,943	Y579C	probably damaging	Het
Macf1	T	C	4: 123,433,275	S4808G	probably damaging	Het
Mapkap1	A	T	2: 34,623,482	K501N	probably damaging	Het
Mdc1	G	T	17: 35,854,445	R1523L	probably benign	Het
Mlh3	C	T	12: 85,266,140		probably benign	Het
Mul1	T	C	4: 138,437,721		probably benign	Het
Mybl2	G	A	2: 163,059,491		probably benign	Het
Notch1	G	C	2: 26,460,458	H2223Q	probably benign	Het
Notch2	C	A	3: 98,146,620	L2200M	probably benign	Het
Olfr1329	A	T	4: 118,917,470		probably null	Het
Olfr160	T	C	9: 37,711,940	Y113C	probably damaging	Het
Olfr291	T	A	7: 84,856,988	F206L	probably benign	Het
Olfr358	G	A	2: 37,005,045	R190*	probably null	Het
Plekhs1	T	C	19: 56,477,290		probably null	Het
Ppm1h	G	A	10: 122,941,355	G509R	probably damaging	Het
Ppp2r3c	C	T	12: 55,298,422	E94K	probably damaging	Het
Ppp2r5e	T	A	12: 75,462,390	I372F	probably damaging	Het
Ptprt	G	A	2: 162,278,070	T159I	probably benign	Het
Rab20	A	G	8: 11,454,415	F95S	probably damaging	Het
Rfc3	A	C	5: 151,651,151	M1R	probably null	Het
Skp2	A	G	15: 9,125,193	S100P	probably damaging	Het
Smg5	T	C	3: 88,349,233	S269P	probably benign	Het
Sspo	A	T	6: 48,455,418	T684S	probably benign	Het
Syt3	A	G	7: 44,393,358	K355E	probably damaging	Het
Tcp10a	A	T	17: 7,343,504	K355N	probably damaging	Het
Tnrc18	A	G	5: 142,765,045		probably benign	Het
Tsfm	A	G	10: 127,030,470	L74P	probably benign	Het
Ttn	G	C	2: 76,734,265	N28509K	probably damaging	Het
Ube2l6	G	A	2: 84,798,908	M1I	probably null	Het
Vmn2r80	T	A	10: 79,169,496	H322Q	probably damaging	Het
Zkscan8	A	T	13: 21,522,271	S212T	probably benign	Het

Other mutations in Fam49a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00863:Fam49a	APN	12	12359234	missense	probably benign
IGL01614:Fam49a	APN	12	12361573	critical splice donor site	probably null
IGL02313:Fam49a	APN	12	12364751	missense	possibly damaging	0.93
R1807:Fam49a	UTSW	12	12361504	missense	probably benign	0.01
R2017:Fam49a	UTSW	12	12362361	missense	probably damaging	1.00
R3893:Fam49a	UTSW	12	12362525	missense	probably benign	0.21
R5816:Fam49a	UTSW	12	12358165	missense	probably benign	0.33
R7169:Fam49a	UTSW	12	12359232	missense	possibly damaging	0.81
R7363:Fam49a	UTSW	12	12340664	splice site	probably null
R7522:Fam49a	UTSW	12	12358056	missense	possibly damaging	0.93
R7877:Fam49a	UTSW	12	12364797	missense	probably benign	0.37
R8061:Fam49a	UTSW	12	12362027	missense	possibly damaging	0.55
R9048:Fam49a	UTSW	12	12362285	missense	probably damaging	1.00
R9490:Fam49a	UTSW	12	12340726	missense	probably benign
RF015:Fam49a	UTSW	12	12369938	missense	probably benign
X0017:Fam49a	UTSW	12	12362069	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGGAACCCCGCTATTCAGAATGAC -3'
(R):5'- TCCAGCATGACTTTACAGACGCTTG -3'

Sequencing Primer
(F):5'- AAGGCAGAGTCCTTGTCTATAGC -3'
(R):5'- AGACGCTTGTCATCGTACTGAG -3'

Posted On

2013-04-11