Mutagenetix > Incidental Mutations

Incidental Mutation 'R6977:Fam135a'

542488

Institutional Source

Beutler Lab

Gene Symbol

Fam135a

Ensembl Gene

ENSMUSG00000026153

Gene Name

family with sequence similarity 135, member A

Synonyms

4921533L14Rik

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.577) question?

Stock #

R6977 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24011093-24100341 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 24054098 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 149 (N149I)

Ref Sequence

ENSEMBL: ENSMUSP00000139633 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000027337
AA Change: N192I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000027337
Gene: ENSMUSG00000026153
AA Change: N192I

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 damaging
Transcript: ENSMUST00000186999
AA Change: N192I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000140198
Gene: ENSMUSG00000026153
AA Change: N192I

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: N192I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140766
Gene: ENSMUSG00000026153
AA Change: N192I

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 damaging
Transcript: ENSMUST00000187752
AA Change: N149I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139633
Gene: ENSMUSG00000026153
AA Change: N149I

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

possibly damaging
Transcript: ENSMUST00000188712
AA Change: K147N

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	G	A	13: 59,691,580	S17L	possibly damaging	Het
Acap2	G	T	16: 31,117,261	T336K	probably damaging	Het
Angptl7	A	T	4: 148,497,393	W179R	probably damaging	Het
Atp9b	A	G	18: 80,753,102	F909L	probably damaging	Het
BC048403	A	G	10: 121,745,466	H124R	probably damaging	Het
BC051665	A	T	13: 60,784,672	Y66*	probably null	Het
C8b	A	G	4: 104,786,996	T287A	possibly damaging	Het
Camk2a	G	A	18: 60,960,004	G301E	probably damaging	Het
Ccdc186	A	G	19: 56,798,787	M583T	probably benign	Het
Cd55b	T	A	1: 130,419,791	K94N	probably damaging	Het
Celsr3	T	C	9: 108,827,715	S466P	probably benign	Het
Cep152	A	G	2: 125,568,822		probably null	Het
Cep70	A	G	9: 99,291,676	D420G	probably damaging	Het
Cnih4	T	C	1: 181,162,148	S48P	possibly damaging	Het
Cpne8	T	C	15: 90,497,091	K507E	probably benign	Het
Cyp2b23	T	C	7: 26,681,320	Y160C	possibly damaging	Het
Dnah9	C	A	11: 66,107,909	M1104I	probably benign	Het
Fbxl4	A	T	4: 22,376,930	Q122L	probably benign	Het
Gm11232	T	C	4: 71,757,941		probably benign	Het
Gm5901	A	G	7: 105,377,160	Y45C	probably benign	Het
Gsap	A	T	5: 21,271,221	I553F	probably damaging	Het
Ifih1	A	G	2: 62,606,186	F631S	probably damaging	Het
Kif21a	T	C	15: 90,980,837	D544G	probably damaging	Het
Klc2	G	A	19: 5,109,365	R552C	probably damaging	Het
Lamp1	T	C	8: 13,173,661	V293A	probably damaging	Het
Muc16	T	A	9: 18,645,337	D3220V	unknown	Het
Myb	A	T	10: 21,152,652	I104K	probably damaging	Het
Mycbp2	C	A	14: 103,154,906	R3227L	probably damaging	Het
Ncapd2	A	T	6: 125,171,509	L1053Q	probably damaging	Het
Nelfe	T	A	17: 34,854,712	V316E	probably damaging	Het
Noxred1	T	C	12: 87,221,317	I347V	probably null	Het
Olfr150	A	G	9: 39,737,034	Y73C	probably benign	Het
Plekha7	A	G	7: 116,135,967	V1033A	probably benign	Het
Plekhh1	G	C	12: 79,065,717	W589C	probably damaging	Het
Ppp6r3	A	T	19: 3,467,272	F658L	probably damaging	Het
Prss55	A	G	14: 64,079,336	M119T	probably damaging	Het
Rab28	G	A	5: 41,698,392	Q87*	probably null	Het
Rsf1	GGCG	GGCGACGGCAGCG	7: 97,579,906		probably benign	Het
Sdr16c6	A	T	4: 4,076,865	F11L	probably benign	Het
Serpinb5	T	G	1: 106,872,347	V89G	probably benign	Het
Slc12a9	A	T	5: 137,315,813	V628E	probably damaging	Het
Slc25a34	G	A	4: 141,620,498	R291C	probably damaging	Het
Slmap	C	T	14: 26,533,419	R36H	probably damaging	Het
Sybu	A	G	15: 44,677,695	S324P	probably benign	Het
Syk	A	T	13: 52,633,058	M363L	probably benign	Het
Tecpr2	T	C	12: 110,939,766	V934A	probably benign	Het
Thpo	A	G	16: 20,725,683	L200P	probably damaging	Het
Tiam2	T	A	17: 3,518,659	S1693R	probably damaging	Het
Usp48	A	G	4: 137,650,360	D232G	probably damaging	Het
Wasf1	A	G	10: 40,926,585	S79G	probably damaging	Het
Zfp90	G	T	8: 106,425,316	D554Y	probably damaging	Het
Zfp90	A	T	8: 106,425,317	D554V	probably damaging	Het
Zic5	T	C	14: 122,459,548	T552A	unknown	Het
Zic5	CGACGAGTAG	C	14: 122,459,555		probably benign	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
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
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
R7681:Fam135a	UTSW	1	24067915	missense	probably benign	0.03
R7748:Fam135a	UTSW	1	24028969	missense	probably benign	0.00
X0022:Fam135a	UTSW	1	24030214	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TACAAAGGTCACTGGCTGTC -3'
(R):5'- CTGAGTTTGCTGGCACACTTG -3'

Sequencing Primer
(F):5'- GGTCACTGGCTGTCAAAAAC -3'
(R):5'- TCAGTCCTCTGTATCTCATAGAGAG -3'

Posted On

2018-11-28