Mutagenetix > Incidental Mutation

Incidental Mutation 'R4929:Fam135a'

381063

Institutional Source

Beutler Lab

Gene Symbol

Fam135a

Ensembl Gene

ENSMUSG00000026153

Gene Name

family with sequence similarity 135, member A

Synonyms

4921533L14Rik

MMRRC Submission

042530-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

R4929 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24011093-24100341 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24030000 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 596 (D596G)

Ref Sequence

ENSEMBL: ENSMUSP00000027337 (fasta)

Gene Model

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

AlphaFold

Q6NS59

Predicted Effect

probably benign
Transcript: ENSMUST00000027337
AA Change: D596G

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000027337
Gene: ENSMUSG00000026153
AA Change: D596G

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 benign
Transcript: ENSMUST00000186999

SMART Domains

Protein: ENSMUSP00000140198
Gene: ENSMUSG00000026153

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 benign
Transcript: ENSMUST00000187369

SMART Domains

Protein: ENSMUSP00000140766
Gene: ENSMUSG00000026153

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 benign
Transcript: ENSMUST00000187752

SMART Domains

Protein: ENSMUSP00000139633
Gene: ENSMUSG00000026153

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

0.0584

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.9%

Validation Efficiency

100% (66/66)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	A	G	7: 29,574,042		noncoding transcript	Het
Abcd3	A	T	3: 121,768,746		probably null	Het
Adamts12	C	T	15: 11,259,022	R551C	probably damaging	Het
Adamtsl4	A	G	3: 95,678,005	C818R	probably damaging	Het
Arfgef3	T	A	10: 18,630,851	Q842L	probably benign	Het
Aurka	A	T	2: 172,370,406	V17E	probably benign	Het
Ccdc144b	G	A	3: 36,035,338	L146F	probably damaging	Het
Cdh24	C	T	14: 54,633,516	V132I	probably benign	Het
Cep57l1	T	C	10: 41,745,914	D2G	possibly damaging	Het
Cntn5	T	A	9: 9,976,395		probably null	Het
Col10a1	T	C	10: 34,395,124	I364T	probably benign	Het
Dpp6	G	A	5: 27,049,787	A67T	probably benign	Het
Dym	T	A	18: 75,243,286	V583E	probably damaging	Het
Efcab5	T	G	11: 77,103,383	K1259N	probably benign	Het
Ehbp1	T	G	11: 22,239,169	I78L	possibly damaging	Het
Epha1	C	A	6: 42,364,599	A469S	probably benign	Het
Filip1	T	C	9: 79,819,747	N530S	probably benign	Het
Grhl2	A	G	15: 37,360,802	N610S	probably benign	Het
Haus6	T	C	4: 86,595,433	I331V	probably benign	Het
Ints2	G	T	11: 86,212,653	N1192K	possibly damaging	Het
Itga5	A	G	15: 103,353,235	V445A	probably benign	Het
Itga9	C	A	9: 118,807,249	D82E	probably damaging	Het
Jam2	G	A	16: 84,822,862		probably benign	Het
Klhl32	T	A	4: 24,709,030	I112F	probably damaging	Het
Lepr	A	G	4: 101,815,117	I1113V	probably benign	Het
Lrrc3b	C	A	14: 15,357,888	L239F	probably damaging	Het
Lzic	T	A	4: 149,488,128		probably null	Het
Mxra8	T	A	4: 155,842,661	F351I	probably damaging	Het
Naa40	A	G	19: 7,229,982	F126L	probably damaging	Het
Nbeal1	C	T	1: 60,238,654	S733F	probably damaging	Het
Olfr183	A	C	16: 59,000,219	Y178S	probably damaging	Het
Olfr259	A	G	2: 87,108,183	F68S	possibly damaging	Het
Olfr686	A	G	7: 105,204,025	I106T	probably damaging	Het
Olr1	T	C	6: 129,500,081	T74A	probably damaging	Het
Pgam5	A	T	5: 110,265,825	V130D	probably damaging	Het
Pop4	A	G	7: 38,266,149	C115R	probably damaging	Het
Prpf18	A	T	2: 4,624,537		probably null	Het
Psg16	G	A	7: 17,095,106	R205H	possibly damaging	Het
Ptgr1	C	A	4: 58,981,879	A53S	probably benign	Het
Shank2	A	G	7: 144,411,271	D1451G	probably benign	Het
Slfn10-ps	A	G	11: 83,029,519		noncoding transcript	Het
Sox8	G	A	17: 25,570,356	A56V	probably benign	Het
Ssr3	A	G	3: 65,387,754	S113P	probably damaging	Het
Stx16	T	C	2: 174,096,928	Y296H	possibly damaging	Het
Tfcp2	A	T	15: 100,528,489	N60K	probably benign	Het
Thada	T	C	17: 84,444,226	T441A	probably benign	Het
Trf	G	T	9: 103,227,875		probably benign	Het
Vamp2	T	A	11: 69,088,662		probably benign	Het
Vmn2r105	A	T	17: 20,228,018	D181E	probably benign	Het
Vmn2r12	A	T	5: 109,091,678	Y340N	probably damaging	Het
Wasf2	C	A	4: 133,195,859	D493E	unknown	Het
Wdfy4	T	C	14: 33,047,256	D2084G	possibly damaging	Het
Zfp229	T	A	17: 21,746,373	I528N	probably damaging	Het
Zfp703	T	A	8: 26,978,851	V181E	possibly 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
R1954:Fam135a	UTSW	1	24029602	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
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
R8994:Fam135a	UTSW	1	24028540	missense	probably damaging	1.00
X0022:Fam135a	UTSW	1	24030214	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ATTGAAAGACTCTTTACTGCTGGAC -3'
(R):5'- CTAAATGCTTGGAAGGCAGTC -3'

Sequencing Primer
(F):5'- CAAGTGTTCTAACTCCCGAAGATGG -3'
(R):5'- GGCAGTCCTTCACATAGTCAG -3'

Posted On

2016-04-15