Mutagenetix > Incidental Mutation

Incidental Mutation 'R8246:Fam149a'

640762

Institutional Source

Beutler Lab

Gene Symbol

Fam149a

Ensembl Gene

ENSMUSG00000070044

Gene Name

family with sequence similarity 149, member A

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8246 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45336717-45382291 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45381618 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 48 (E48G)

Ref Sequence

ENSEMBL: ENSMUSP00000091245 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093526]

AlphaFold

Q8CFV2

Predicted Effect

probably benign
Transcript: ENSMUST00000093526
AA Change: E48G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000091245
Gene: ENSMUSG00000070044
AA Change: E48G

Domain	Start	End	E-Value	Type
low complexity region	48	65	N/A	INTRINSIC
low complexity region	96	111	N/A	INTRINSIC
low complexity region	239	250	N/A	INTRINSIC
low complexity region	262	274	N/A	INTRINSIC
Pfam:DUF3719	305	370	4.3e-30	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330182L06Rik	T	C	5: 9,446,966	V810A	probably benign	Het
Alpk3	C	A	7: 81,092,776	D780E	probably benign	Het
Anln	A	C	9: 22,350,955	S947A	probably benign	Het
Borcs6	C	T	11: 69,060,551	P252S	probably benign	Het
Ccdc109b	C	A	3: 129,915,165	V328L	probably benign	Het
Ccdc42	C	A	11: 68,587,296	Q28K	probably benign	Het
Cp	A	G	3: 19,975,022	I554M	probably damaging	Het
Dnm3	T	G	1: 162,307,917	D429A	probably damaging	Het
Dok5	A	G	2: 170,800,893	K37R	probably benign	Het
Dtwd2	A	T	18: 49,698,425	Y268N	probably benign	Het
Eif3a	T	C	19: 60,779,368	E244G	probably damaging	Het
Fam160a2	T	C	7: 105,389,660	E124G	probably damaging	Het
Fam186a	T	A	15: 99,940,547	E2605D	unknown	Het
Fyn	T	A	10: 39,529,529	W264R	probably damaging	Het
Gm10024	T	A	10: 77,711,535	S27T	unknown	Het
Gm156	A	G	6: 129,775,376		probably benign	Het
Gpr157	C	T	4: 150,102,296	L294F	possibly damaging	Het
Kif6	C	T	17: 49,758,514	Q506*	probably null	Het
Loxhd1	A	G	18: 77,363,546	K707R	possibly damaging	Het
Mdn1	C	T	4: 32,657,284	P12S	probably benign	Het
Mrgprb3	T	G	7: 48,643,520	L94F	probably benign	Het
Mycbp2	G	T	14: 103,155,204	P3307Q	probably damaging	Het
Nol8	T	G	13: 49,655,248		probably benign	Het
Olfr1308	T	C	2: 111,960,138	I312V	probably benign	Het
Olfr744	A	G	14: 50,618,384	Y54C	probably benign	Het
Pax5	T	C	4: 44,570,027	H286R	probably benign	Het
Rmdn2	T	A	17: 79,672,537	C381*	probably null	Het
Rpusd4	A	G	9: 35,272,580	I202V	probably benign	Het
Shank3	A	T	15: 89,533,346	R49W	possibly damaging	Het
Smurf2	T	C	11: 106,831,044	T542A	probably benign	Het
Sorcs2	G	A	5: 36,062,588	R371C	probably damaging	Het
Sqstm1	T	C	11: 50,210,561	H66R	probably damaging	Het
Stard8	C	T	X: 99,065,964	S155L	probably benign	Het
Svep1	A	T	4: 58,091,889	V1582D	probably damaging	Het
Tecrl	T	C	5: 83,279,309	M331V	probably damaging	Het
Tinf2	T	C	14: 55,679,585	S368G	probably damaging	Het
Tmem184c	A	T	8: 77,610,185	I14N	probably damaging	Het
Ttc28	G	A	5: 111,233,341	D1240N	probably benign	Het
Ulk4	T	C	9: 121,156,875	*911W	probably null	Het
Unc13b	T	C	4: 43,175,954	F2261L	unknown	Het
Vps16	G	C	2: 130,438,873	G241R	probably damaging	Het
Ythdc1	C	T	5: 86,817,322	T292I	possibly damaging	Het

Other mutations in Fam149a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00226:Fam149a	APN	8	45339343	missense	probably damaging	1.00
IGL00229:Fam149a	APN	8	45351786	missense	probably damaging	0.98
IGL01089:Fam149a	APN	8	45348527	missense	possibly damaging	0.95
IGL01578:Fam149a	APN	8	45350442	missense	probably damaging	1.00
IGL03095:Fam149a	APN	8	45341228	missense	probably damaging	1.00
IGL03112:Fam149a	APN	8	45348543	missense	possibly damaging	0.78
guangxi	UTSW	8	45381741	missense	probably damaging	1.00
PIT1430001:Fam149a	UTSW	8	45351706	missense	probably benign	0.00
R0111:Fam149a	UTSW	8	45341146	splice site	probably benign
R0113:Fam149a	UTSW	8	45341024	missense	probably damaging	1.00
R0452:Fam149a	UTSW	8	45355649	missense	probably damaging	1.00
R0604:Fam149a	UTSW	8	45345008	missense	probably damaging	1.00
R1441:Fam149a	UTSW	8	45355647	missense	probably damaging	1.00
R1672:Fam149a	UTSW	8	45339374	critical splice acceptor site	probably null
R1861:Fam149a	UTSW	8	45339362	nonsense	probably null
R1981:Fam149a	UTSW	8	45381741	missense	probably damaging	1.00
R2173:Fam149a	UTSW	8	45353954	missense	probably damaging	1.00
R2211:Fam149a	UTSW	8	45341009	missense	probably damaging	0.99
R3807:Fam149a	UTSW	8	45381610	missense	possibly damaging	0.91
R4176:Fam149a	UTSW	8	45341284	missense	probably benign	0.41
R4913:Fam149a	UTSW	8	45353883	missense	probably damaging	1.00
R5158:Fam149a	UTSW	8	45350435	missense	possibly damaging	0.51
R5172:Fam149a	UTSW	8	45344653	missense	probably damaging	0.99
R5436:Fam149a	UTSW	8	45348471	missense	probably benign	0.21
R6060:Fam149a	UTSW	8	45358762	intron	probably benign
R6426:Fam149a	UTSW	8	45381574	missense	probably benign
R6590:Fam149a	UTSW	8	45349034	missense	probably damaging	1.00
R6596:Fam149a	UTSW	8	45381630	missense	probably benign	0.25
R6690:Fam149a	UTSW	8	45349034	missense	probably damaging	1.00
R6730:Fam149a	UTSW	8	45381174	missense	probably damaging	1.00
R6734:Fam149a	UTSW	8	45381441	missense	probably benign
R6916:Fam149a	UTSW	8	45350406	missense	probably damaging	1.00
R7088:Fam149a	UTSW	8	45350545	missense	probably benign	0.08
R7219:Fam149a	UTSW	8	45350563	missense	possibly damaging	0.94
R7352:Fam149a	UTSW	8	45340997	missense	probably damaging	0.98
R7454:Fam149a	UTSW	8	45348546	missense	probably benign	0.29
R7591:Fam149a	UTSW	8	45350435	missense	possibly damaging	0.89
R7788:Fam149a	UTSW	8	45381517	missense	probably damaging	1.00
R7846:Fam149a	UTSW	8	45358641	missense
R7915:Fam149a	UTSW	8	45341243	missense	probably benign
R8036:Fam149a	UTSW	8	45349011	missense	probably benign	0.00
R8181:Fam149a	UTSW	8	45381718	missense	possibly damaging	0.92
R8239:Fam149a	UTSW	8	45350453	missense	possibly damaging	0.48
R8532:Fam149a	UTSW	8	45348954	missense	possibly damaging	0.80
R8856:Fam149a	UTSW	8	45381574	missense
R8986:Fam149a	UTSW	8	45358800	missense
R9448:Fam149a	UTSW	8	45339374	critical splice acceptor site	probably null
R9704:Fam149a	UTSW	8	45342465	missense	probably benign	0.24
R9794:Fam149a	UTSW	8	45381412	missense	possibly damaging	0.47
Z1176:Fam149a	UTSW	8	45342458	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- AAAGTCACTGAAGCCACTGAGC -3'
(R):5'- CAGTCACAGTAACCTCTCCAGG -3'

Sequencing Primer
(F):5'- CGGTGCTATGGATGCTCC -3'
(R):5'- TCTCCAGGACCAAGGCATG -3'

Posted On

2020-07-28