Mutagenetix > Incidental Mutation

Incidental Mutation 'R2211:Fam149a'

239381

Institutional Source

Beutler Lab

Gene Symbol

Fam149a

Ensembl Gene

ENSMUSG00000070044

Gene Name

family with sequence similarity 149, member A

Synonyms

MMRRC Submission

040213-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2211 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45336717-45382291 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 45341009 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 674 (T674I)

Ref Sequence

ENSEMBL: ENSMUSP00000114612 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093526] [ENSMUST00000155230]

AlphaFold

Q8CFV2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000093526
AA Change: T755I

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000091245
Gene: ENSMUSG00000070044
AA Change: T755I

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

Predicted Effect

unknown
Transcript: ENSMUST00000135912
AA Change: T711I

SMART Domains

Protein: ENSMUSP00000120196
Gene: ENSMUSG00000070044
AA Change: T711I

Domain	Start	End	E-Value	Type
low complexity region	59	85	N/A	INTRINSIC
low complexity region	90	108	N/A	INTRINSIC
low complexity region	193	204	N/A	INTRINSIC
low complexity region	216	228	N/A	INTRINSIC
Pfam:DUF3719	259	324	2.7e-30	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000155230
AA Change: T674I

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000114612
Gene: ENSMUSG00000070044
AA Change: T674I

Domain	Start	End	E-Value	Type
low complexity region	24	50	N/A	INTRINSIC
low complexity region	55	73	N/A	INTRINSIC
low complexity region	158	169	N/A	INTRINSIC
low complexity region	181	193	N/A	INTRINSIC
Pfam:DUF3719	224	291	5.8e-28	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430078G23Rik	T	C	8: 3,387,680	S268P	possibly damaging	Het
Adam18	A	G	8: 24,628,155	S34P	probably damaging	Het
Adam23	T	A	1: 63,573,129		probably benign	Het
Adcy10	A	T	1: 165,518,212	I277F	probably damaging	Het
Arfgef3	A	T	10: 18,592,245	S1736T	possibly damaging	Het
Arhgap21	A	T	2: 20,881,640	M242K	possibly damaging	Het
Astn1	A	G	1: 158,657,306	R4G	probably benign	Het
AU041133	G	A	10: 82,150,921	C135Y	probably damaging	Het
Cdc42bpb	A	G	12: 111,301,854	V53A	probably benign	Het
Cdh23	T	C	10: 60,466,004	D428G	possibly damaging	Het
Cebpa	T	C	7: 35,120,466	S350P	probably damaging	Het
Cftr	A	G	6: 18,214,280	M152V	probably null	Het
Cpa4	A	G	6: 30,583,650	N255S	possibly damaging	Het
Ddx51	T	A	5: 110,655,768	D343E	probably damaging	Het
Dnah7a	T	C	1: 53,479,773	I2942V	probably benign	Het
Dnajc1	G	T	2: 18,392,475	A9E	probably damaging	Het
Dpysl5	G	A	5: 30,791,597	D399N	probably damaging	Het
Edem3	A	G	1: 151,804,702	D526G	possibly damaging	Het
Emc10	G	A	7: 44,493,192	R109W	probably damaging	Het
Etaa1	G	A	11: 17,952,686	Q84*	probably null	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Fam98a	A	G	17: 75,538,945		probably null	Het
Fat4	A	G	3: 38,891,527	N1523S	possibly damaging	Het
Fbxw10	A	G	11: 62,867,535	T529A	probably damaging	Het
Gzf1	C	T	2: 148,684,950	A447V	probably damaging	Het
Hap1	G	A	11: 100,354,724	T138M	probably benign	Het
Hic1	T	A	11: 75,169,384	R46W	possibly damaging	Het
Id4	T	A	13: 48,261,802	L102Q	probably damaging	Het
Il3ra	T	C	14: 14,355,029	C271R	probably benign	Het
Ints4	T	C	7: 97,509,750	I443T	possibly damaging	Het
Lmln	A	G	16: 33,109,778	E535G	probably benign	Het
Lrrtm4	A	G	6: 80,022,640	H345R	probably benign	Het
Ltbp3	T	C	19: 5,753,962	I834T	possibly damaging	Het
Mnd1	C	A	3: 84,134,109	C62F	probably benign	Het
Mpp5	A	T	12: 78,797,248	K75N	possibly damaging	Het
Ms4a18	C	A	19: 10,997,305	V341L	probably benign	Het
Nbr1	T	C	11: 101,567,264		probably null	Het
Nf1	T	C	11: 79,444,064	M914T	probably benign	Het
Notch3	T	A	17: 32,147,978	H861L	probably benign	Het
Nupl1	A	G	14: 60,232,640	F341L	probably damaging	Het
Ogfod2	C	A	5: 124,112,780		probably null	Het
Oit3	T	C	10: 59,428,070	D414G	probably damaging	Het
Olfr1079	T	C	2: 86,538,513	Y132C	probably damaging	Het
Olfr1497	T	A	19: 13,795,369	M81L	probably benign	Het
Olfr787	A	T	10: 129,462,940	K88M	probably damaging	Het
Olfr804	A	G	10: 129,705,451	H191R	probably benign	Het
Pcbp4	C	A	9: 106,460,734	H74Q	probably benign	Het
Pip5k1b	A	T	19: 24,378,850	D241E	probably damaging	Het
Plcb2	T	C	2: 118,723,534	D102G	probably benign	Het
Plekha5	G	A	6: 140,525,861	E4K	possibly damaging	Het
Ppargc1a	A	C	5: 51,474,259	S343A	possibly damaging	Het
Ppwd1	G	A	13: 104,207,142	S585L	probably benign	Het
Rarg	T	C	15: 102,239,524	N284S	probably benign	Het
Rnpepl1	C	T	1: 92,916,380	L278F	probably damaging	Het
Rp1	A	C	1: 4,348,139	S917A	probably damaging	Het
Rsf1	ATGGCG	ATGGCGAGGGTGGCG	7: 97,579,904		probably benign	Het
Rsph3b	T	C	17: 6,941,740	S189G	probably benign	Het
Sec31b	A	T	19: 44,523,150	L604Q	probably damaging	Het
Sema6b	T	A	17: 56,124,741	I641F	probably benign	Het
Slc35f5	A	T	1: 125,579,264	I309F	possibly damaging	Het
Smarca4	A	G	9: 21,686,029	E1360G	probably damaging	Het
Spata31d1c	T	C	13: 65,035,939	S432P	probably benign	Het
Spsb3	T	C	17: 24,890,937		probably null	Het
Sptbn4	T	C	7: 27,367,609	D1960G	probably damaging	Het
Srgap1	A	G	10: 121,853,740	V345A	possibly damaging	Het
Tiam2	C	A	17: 3,414,918	C307*	probably null	Het
Trim43b	T	A	9: 89,085,249	T444S	possibly damaging	Het
Trmt13	A	G	3: 116,594,754	I11T	probably benign	Het
Ylpm1	A	T	12: 85,044,378	R1073*	probably null	Het
Zfp524	T	C	7: 5,017,919	S149P	probably damaging	Het
Zfp777	T	C	6: 48,043,885	I312V	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
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
R8246:Fam149a	UTSW	8	45381618	missense	probably benign	0.00
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'- TCACATAGCACCATTGTGAGC -3'
(R):5'- GAACAGCTTTCAAGGCCCAG -3'

Sequencing Primer
(F):5'- ACATAGCACCATTGTGAGCTCTCTC -3'
(R):5'- GCTTTCAAGGCCCAGCACAAC -3'

Posted On

2014-10-15