Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01089:Fam149a'

51743

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam149a

Ensembl Gene

ENSMUSG00000070044

Gene Name

family with sequence similarity 149, member A

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01089

Quality Score

Status

Chromosome

Chromosomal Location

45336717-45382291 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45348527 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 519 (L519P)

Ref Sequence

ENSEMBL: ENSMUSP00000091245 (fasta)

Gene Model

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

AlphaFold

Q8CFV2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000093526
AA Change: L519P

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000091245
Gene: ENSMUSG00000070044
AA Change: L519P

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: L472P

SMART Domains

Protein: ENSMUSP00000120196
Gene: ENSMUSG00000070044
AA Change: L472P

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 benign
Transcript: ENSMUST00000155230
AA Change: L438P

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000114612
Gene: ENSMUSG00000070044
AA Change: L438P

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016K19Rik	A	G	11: 76,003,337	E180G	possibly damaging	Het
Actr8	T	C	14: 29,988,335	L353S	probably damaging	Het
Adgrf2	G	A	17: 42,710,158	P592S	probably damaging	Het
Aen	G	A	7: 78,907,302	M299I	probably damaging	Het
Afap1l2	A	C	19: 56,913,411		probably null	Het
Asnsd1	G	A	1: 53,348,277	P64S	probably damaging	Het
Bmt2	A	G	6: 13,663,271	M76T	probably damaging	Het
Clca3b	A	T	3: 144,823,522	V797D	probably benign	Het
Cog2	T	C	8: 124,545,243	S499P	probably benign	Het
Cyp27a1	A	T	1: 74,731,938	Y94F	possibly damaging	Het
D430042O09Rik	A	G	7: 125,795,313	E187G	probably damaging	Het
D630045J12Rik	A	G	6: 38,136,963	S1765P	probably benign	Het
Fam171a2	G	A	11: 102,437,848	A695V	possibly damaging	Het
Fat1	T	A	8: 45,017,857	V1566E	probably damaging	Het
Flvcr1	T	G	1: 191,013,390	N361H	probably damaging	Het
Gm1110	T	C	9: 26,881,860	N540S	probably benign	Het
Kcns3	T	A	12: 11,091,571	T376S	possibly damaging	Het
Krt32	A	G	11: 100,087,779	S150P	probably benign	Het
Lrtm2	C	T	6: 119,320,792	R96Q	possibly damaging	Het
Mctp1	A	G	13: 77,020,798	E838G	probably damaging	Het
Mios	T	C	6: 8,234,363		probably null	Het
Olfr338	A	T	2: 36,377,166	Y130F	probably damaging	Het
Phldb1	T	A	9: 44,707,887	K167*	probably null	Het
Pkhd1l1	A	G	15: 44,483,869		probably benign	Het
Plaa	A	G	4: 94,574,047	V531A	probably benign	Het
Psmb2	A	G	4: 126,684,206	Y59C	probably damaging	Het
Ptprg	A	G	14: 12,215,286	H1091R	probably damaging	Het
Rbm44	T	A	1: 91,168,697	V926D	possibly damaging	Het
Rgma	G	T	7: 73,409,714	V189L	possibly damaging	Het
Sbf2	A	T	7: 110,348,962	I1227K	probably damaging	Het
Slc8a1	T	C	17: 81,648,281	T443A	probably damaging	Het
Slc8a1	A	G	17: 81,388,881	V896A	probably damaging	Het
Taf2	T	C	15: 55,016,581	M1120V	probably benign	Het
Ugt2b34	C	T	5: 86,906,326	V199I	probably benign	Het
Unc5c	C	A	3: 141,818,202		probably benign	Het
Usp37	G	A	1: 74,493,046	R63*	probably null	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
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
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

Posted On

2013-06-21