Mutagenetix > Incidental Mutations

Incidental Mutation 'R1954:Fam135a'

217523

Institutional Source

Beutler Lab

Gene Symbol

Fam135a

Ensembl Gene

ENSMUSG00000026153

Gene Name

family with sequence similarity 135, member A

Synonyms

4921533L14Rik

MMRRC Submission

039968-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.157) question?

Stock #

R1954 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24011093-24100341 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24029602 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 533 (L533I)

Ref Sequence

ENSEMBL: ENSMUSP00000140766 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027337] [ENSMUST00000185807] [ENSMUST00000186331] [ENSMUST00000186999] [ENSMUST00000187369] [ENSMUST00000187752] [ENSMUST00000188712]

Predicted Effect

probably damaging
Transcript: ENSMUST00000027337
AA Change: L729I

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000027337
Gene: ENSMUSG00000026153
AA Change: L729I

Domain	Start	End	E-Value	Type
Pfam:DUF3657	111	172	1.9e-19	PFAM
coiled coil region	270	295	N/A	INTRINSIC
low complexity region	489	502	N/A	INTRINSIC
low complexity region	842	853	N/A	INTRINSIC
low complexity region	1072	1085	N/A	INTRINSIC
Blast:LRRNT	1139	1172	4e-6	BLAST
low complexity region	1173	1184	N/A	INTRINSIC
Pfam:DUF676	1235	1431	9e-65	PFAM
Pfam:PGAP1	1237	1440	3.9e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000185807

SMART Domains

Protein: ENSMUSP00000140078
Gene: ENSMUSG00000026153

Domain	Start	End	E-Value	Type
Blast:LRRNT	27	60	4e-7	BLAST
low complexity region	61	72	N/A	INTRINSIC
Pfam:DUF676	104	161	2.2e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000186331

SMART Domains

Protein: ENSMUSP00000140947
Gene: ENSMUSG00000026153

Domain	Start	End	E-Value	Type
low complexity region	172	185	N/A	INTRINSIC
Blast:LRRNT	239	272	1e-6	BLAST
low complexity region	273	284	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000186999
AA Change: L559I

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000140198
Gene: ENSMUSG00000026153
AA Change: L559I

Domain	Start	End	E-Value	Type
Pfam:DUF3657	111	173	1.8e-15	PFAM
Pfam:DUF3657	338	395	7.3e-8	PFAM
low complexity region	672	683	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000187369
AA Change: L533I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000140766
Gene: ENSMUSG00000026153
AA Change: L533I

Domain	Start	End	E-Value	Type
Pfam:DUF3657	111	173	3e-15	PFAM
coiled coil region	270	295	N/A	INTRINSIC
Pfam:DUF3657	312	369	1.2e-7	PFAM
low complexity region	646	657	N/A	INTRINSIC
low complexity region	876	889	N/A	INTRINSIC
Blast:LRRNT	943	976	4e-6	BLAST
low complexity region	977	988	N/A	INTRINSIC
Pfam:DUF676	1039	1235	6.8e-62	PFAM
Pfam:PGAP1	1041	1259	8.1e-5	PFAM
Pfam:LCAT	1097	1203	2.3e-4	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000187619

Predicted Effect

probably damaging
Transcript: ENSMUST00000187752
AA Change: L516I

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000139633
Gene: ENSMUSG00000026153
AA Change: L516I

Domain	Start	End	E-Value	Type
Pfam:DUF3657	68	130	3e-15	PFAM
Pfam:DUF3657	295	352	1.2e-7	PFAM
low complexity region	629	640	N/A	INTRINSIC
low complexity region	859	872	N/A	INTRINSIC
Blast:LRRNT	926	959	4e-6	BLAST
low complexity region	960	971	N/A	INTRINSIC
Pfam:DUF676	1022	1218	6.7e-62	PFAM
Pfam:PGAP1	1024	1242	8e-5	PFAM
Pfam:LCAT	1080	1186	2.2e-4	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000188712

Meta Mutation Damage Score

0.1173

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

97% (101/104)

Allele List at MGI

Other mutations in this stock

Total: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700007G11Rik	A	T	5: 98,566,753		probably benign	Het
Adamts15	T	A	9: 30,910,708	M478L	probably benign	Het
Akap8l	T	A	17: 32,336,736	Y123F	possibly damaging	Het
Anapc4	T	G	5: 52,846,625		probably benign	Het
Arap3	A	G	18: 37,982,002	V987A	probably damaging	Het
Atp2b4	T	A	1: 133,739,992	T105S	probably damaging	Het
Atp6v0d1	A	G	8: 105,565,893	L7P	probably damaging	Het
Atp6v1b2	T	C	8: 69,105,903	V341A	possibly damaging	Het
Baz2b	C	A	2: 59,968,743	A346S	probably benign	Het
Brpf3	G	A	17: 28,806,559	S202N	probably benign	Het
Btnl4	T	C	17: 34,472,930	K233E	possibly damaging	Het
Capn7	A	G	14: 31,360,150	T438A	probably damaging	Het
Cars2	A	T	8: 11,550,286	Y68N	probably damaging	Het
Cbx2	G	T	11: 119,028,340	G244W	probably damaging	Het
Ccr4	A	T	9: 114,492,685	V104D	probably damaging	Het
Cdc5l	T	C	17: 45,426,516		probably null	Het
Cep170	A	T	1: 176,756,384	C810S	probably benign	Het
Clp1	T	C	2: 84,724,051	D258G	probably damaging	Het
Clstn3	T	C	6: 124,459,298	E164G	possibly damaging	Het
Col28a1	T	C	6: 7,998,516	E1131G	probably damaging	Het
Cps1	A	G	1: 67,195,196	D914G	possibly damaging	Het
Ctnnal1	C	T	4: 56,817,242		probably benign	Het
Cyp2c38	A	G	19: 39,404,687	L312P	probably damaging	Het
Cytip	T	C	2: 58,148,253	N99D	possibly damaging	Het
Dennd4a	A	T	9: 64,852,467	T285S	probably benign	Het
Dhx8	A	G	11: 101,753,279	S842G	probably damaging	Het
Disp1	A	T	1: 183,088,543	M771K	probably damaging	Het
Dnah17	A	G	11: 118,024,731	I4326T	probably damaging	Het
Efcab7	T	C	4: 99,900,690	F345L	probably damaging	Het
Erc1	G	T	6: 119,797,305	Q230K	probably damaging	Het
Ern1	A	T	11: 106,421,974		probably benign	Het
Espl1	T	C	15: 102,298,388	Y96H	probably damaging	Het
Fat2	G	A	11: 55,311,084	T388I	probably benign	Het
Galnt1	T	G	18: 24,271,774		probably benign	Het
Glmn	A	G	5: 107,572,377	F212S	probably damaging	Het
Gm3604	A	T	13: 62,369,211	N444K	probably damaging	Het
Gm5434	A	G	12: 36,090,596		probably benign	Het
Gm8989	A	C	7: 106,329,681	D336E	probably damaging	Het
H2-M10.3	T	C	17: 36,367,498	D145G	probably damaging	Het
Hic2	T	A	16: 17,258,993	L562Q	probably damaging	Het
Hip1r	G	T	5: 124,001,844	E1003D	probably damaging	Het
Hist1h1c	T	C	13: 23,739,402	V185A	unknown	Het
Hist1h1d	A	G	13: 23,555,516		probably benign	Het
Hsfy2	C	T	1: 56,637,183	C65Y	probably benign	Het
Inpp1	T	C	1: 52,794,629	T103A	probably damaging	Het
Ints5	T	C	19: 8,894,896	V73A	probably damaging	Het
Iqch	A	T	9: 63,548,016	D166E	probably benign	Het
Klhdc3	A	T	17: 46,677,975	N96K	probably damaging	Het
Klk1b8	C	T	7: 43,953,848		probably benign	Het
Klrb1	T	C	6: 128,723,073		probably null	Het
Krt71	C	A	15: 101,735,466	G446*	probably null	Het
Lars	G	A	18: 42,210,050	R1101C	probably damaging	Het
Lemd3	G	T	10: 120,978,940	S129R	probably damaging	Het
Lrp1b	A	G	2: 40,858,441	L3015P	probably damaging	Het
Mdga2	T	C	12: 66,486,708		probably benign	Het
Mlst8	A	T	17: 24,477,221	I178N	probably damaging	Het
Mon2	A	T	10: 123,038,483	I320N	probably damaging	Het
Morc2b	T	C	17: 33,137,490	Y436C	probably damaging	Het
Moxd1	T	A	10: 24,279,883	M295K	probably benign	Het
Mrps5	T	A	2: 127,596,897		probably null	Het
Mtor	C	A	4: 148,468,273	S744R	probably damaging	Het
Myo3a	T	A	2: 22,241,226	D61E	probably damaging	Het
Nars	C	T	18: 64,500,564	R545Q	probably damaging	Het
Ncoa6	A	G	2: 155,406,821	V1521A	possibly damaging	Het
Ndor1	T	C	2: 25,255,293	E20G	possibly damaging	Het
Nipsnap3b	T	C	4: 53,017,213		probably benign	Het
Notch3	G	T	17: 32,166,678	A39E	probably benign	Het
Olfr1336	G	T	7: 6,461,145	W212L	probably benign	Het
Olfr237-ps1	T	C	6: 43,153,977	I224T	possibly damaging	Het
Olfr345	A	G	2: 36,640,215	M59V	possibly damaging	Het
Otud3	T	C	4: 138,898,032	K237R	possibly damaging	Het
Papola	T	A	12: 105,828,273		probably null	Het
Parl	T	A	16: 20,302,327	M1L	possibly damaging	Het
Parp14	G	T	16: 35,858,301	N432K	probably benign	Het
Patz1	T	G	11: 3,291,088	S159A	probably damaging	Het
Prpf6	T	G	2: 181,632,077	M338R	probably benign	Het
Psd3	A	G	8: 67,697,075	L343P	probably damaging	Het
Ptpn23	A	T	9: 110,386,325	N1422K	probably damaging	Het
Rab19	A	T	6: 39,384,082	T55S	probably benign	Het
Sh3yl1	A	G	12: 30,922,333	K34E	possibly damaging	Het
Skint8	T	A	4: 111,950,081	F321L	possibly damaging	Het
Slc25a46	A	T	18: 31,600,241		probably null	Het
Slc26a3	T	C	12: 31,450,816	L184S	probably damaging	Het
Slc39a10	A	T	1: 46,835,174	S323T	possibly damaging	Het
Sorbs2	G	T	8: 45,745,738	R20L	probably benign	Het
Stk32a	A	T	18: 43,212,025	D13V	probably benign	Het
Tab2	T	C	10: 7,919,330	T463A	probably damaging	Het
Tenm2	T	A	11: 36,047,547	N1433I	possibly damaging	Het
Tmem200c	A	T	17: 68,840,961	I180F	probably damaging	Het
Tmem232	G	T	17: 65,484,487	H129N	probably benign	Het
Tmem242	T	C	17: 5,439,579	T47A	possibly damaging	Het
Ube2d1	A	T	10: 71,285,123	M1K	probably null	Het
Uckl1	T	C	2: 181,570,527	Q332R	probably benign	Het
Unc5b	T	C	10: 60,769,265		probably benign	Het
Vmn2r114	T	C	17: 23,311,112	Y107C	probably benign	Het
Vmn2r82	A	T	10: 79,396,056	S630C	probably damaging	Het
Wdr25	T	A	12: 108,898,541	V204E	probably damaging	Het
Xab2	T	A	8: 3,616,094	D227V	probably damaging	Het
Zfp286	A	G	11: 62,783,708	S104P	possibly damaging	Het
Zfp345	T	C	2: 150,474,821	D22G	probably damaging	Het

Other mutations in Fam135a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00987:Fam135a	APN	1	24055898	missense	probably damaging	1.00
IGL01993:Fam135a	APN	1	24055911	missense	probably damaging	0.99
IGL02172:Fam135a	APN	1	24024780	critical splice donor site	probably null
IGL02832:Fam135a	APN	1	24028633	missense	probably benign	0.00
IGL03075:Fam135a	APN	1	24030906	splice site	probably benign
IGL03197:Fam135a	APN	1	24044182	missense	probably damaging	1.00
IGL03214:Fam135a	APN	1	24053276	missense	probably damaging	1.00
IGL03355:Fam135a	APN	1	24029168	missense	possibly damaging	0.93
PIT4434001:Fam135a	UTSW	1	24029195	missense	probably benign
R0276:Fam135a	UTSW	1	24067964	missense	probably damaging	1.00
R1429:Fam135a	UTSW	1	24044267	missense	probably damaging	1.00
R1553:Fam135a	UTSW	1	24021870	missense	probably damaging	0.97
R1582:Fam135a	UTSW	1	24029317	missense	probably damaging	1.00
R1686:Fam135a	UTSW	1	24029806	missense	probably benign	0.05
R1732:Fam135a	UTSW	1	24026653	missense	possibly damaging	0.71
R1859:Fam135a	UTSW	1	24030225	missense	probably damaging	1.00
R2266:Fam135a	UTSW	1	24028797	missense	probably benign	0.22
R2570:Fam135a	UTSW	1	24021964	missense	probably damaging	1.00
R3725:Fam135a	UTSW	1	24057434	nonsense	probably null
R3740:Fam135a	UTSW	1	24014811	missense	probably damaging	0.99
R3741:Fam135a	UTSW	1	24014811	missense	probably damaging	0.99
R3765:Fam135a	UTSW	1	24055877	missense	possibly damaging	0.95
R3792:Fam135a	UTSW	1	24028311	missense	probably benign	0.14
R3940:Fam135a	UTSW	1	24057475	missense	probably damaging	0.98
R3946:Fam135a	UTSW	1	24030394	missense	probably damaging	0.96
R4754:Fam135a	UTSW	1	24028754	nonsense	probably null
R4794:Fam135a	UTSW	1	24029160	missense	probably benign	0.36
R4887:Fam135a	UTSW	1	24024253	nonsense	probably null
R4891:Fam135a	UTSW	1	24030328	missense	probably benign	0.00
R4929:Fam135a	UTSW	1	24030000	missense	probably benign	0.16
R4999:Fam135a	UTSW	1	24020677	missense	possibly damaging	0.83
R5092:Fam135a	UTSW	1	24028807	missense	probably benign	0.11
R5205:Fam135a	UTSW	1	24029511	missense	probably benign	0.05
R5313:Fam135a	UTSW	1	24028585	missense	possibly damaging	0.89
R5579:Fam135a	UTSW	1	24029727	missense	possibly damaging	0.93
R5689:Fam135a	UTSW	1	24029053	missense	probably benign	0.22
R5863:Fam135a	UTSW	1	24014782	missense	possibly damaging	0.94
R5869:Fam135a	UTSW	1	24029430	missense	possibly damaging	0.53
R6128:Fam135a	UTSW	1	24030740	critical splice donor site	probably null
R6505:Fam135a	UTSW	1	24014872	missense	probably damaging	1.00
R6668:Fam135a	UTSW	1	24028848	missense	probably damaging	0.99
R6793:Fam135a	UTSW	1	24067925	missense	possibly damaging	0.69
R6857:Fam135a	UTSW	1	24014789	missense	probably damaging	0.99
R6931:Fam135a	UTSW	1	24085487	start codon destroyed	probably damaging	1.00
R6977:Fam135a	UTSW	1	24054098	missense	probably damaging	1.00
R7187:Fam135a	UTSW	1	24044214	missense	probably damaging	1.00
R7206:Fam135a	UTSW	1	24030273	missense	probably benign	0.14
R7305:Fam135a	UTSW	1	24030858	missense	probably damaging	1.00
R7313:Fam135a	UTSW	1	24057392	missense	probably damaging	0.98
R7420:Fam135a	UTSW	1	24012486	missense	possibly damaging	0.68
R7646:Fam135a	UTSW	1	24028623	missense	probably benign	0.06
R7661:Fam135a	UTSW	1	24072762	splice site	probably null
R7681:Fam135a	UTSW	1	24067915	missense	probably benign	0.03
R7748:Fam135a	UTSW	1	24028969	missense	probably benign	0.00
R7845:Fam135a	UTSW	1	24029657	missense	probably benign	0.27
R7849:Fam135a	UTSW	1	24044250	missense	probably damaging	1.00
R7914:Fam135a	UTSW	1	24026679	missense	probably damaging	1.00
R8236:Fam135a	UTSW	1	24020648	splice site	probably null
R8314:Fam135a	UTSW	1	24021921	missense	possibly damaging	0.84
R8403:Fam135a	UTSW	1	24028827	missense	probably benign	0.21
R8416:Fam135a	UTSW	1	24028594	missense	probably benign	0.11
R8420:Fam135a	UTSW	1	24028488	missense	probably benign	0.24
R8423:Fam135a	UTSW	1	24021917	missense	probably damaging	0.99
R8745:Fam135a	UTSW	1	24028488	missense	probably benign	0.24
R8754:Fam135a	UTSW	1	24028488	missense	probably benign	0.24
X0022:Fam135a	UTSW	1	24030214	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGGCTATCTCCGGATTTGGATG -3'
(R):5'- CTTCGGGAGTTAGAACACTTGAAG -3'

Sequencing Primer
(F):5'- GTGTTGCAAAAGAACTTGGTTCAC -3'
(R):5'- CCAGCAGTAAAGAGTCTTTCAATGG -3'

Posted On

2014-08-01