Mutagenetix > Incidental Mutation

Incidental Mutation 'R4891:Fam135a'

377293

Institutional Source

Beutler Lab

Gene Symbol

Fam135a

Ensembl Gene

ENSMUSG00000026153

Gene Name

family with sequence similarity 135, member A

Synonyms

4921533L14Rik

MMRRC Submission

042496-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.124) question?

Stock #

R4891 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24050174-24139422 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24069409 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 487 (S487P)

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: S487P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000027337
Gene: ENSMUSG00000026153
AA Change: S487P

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

0.0578

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

100% (39/39)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	A	G	18: 59,166,072 (GRCm39)	Y1088C	probably damaging	Het
Cercam	C	A	2: 29,759,283 (GRCm39)		probably benign	Het
Chst1	A	G	2: 92,444,337 (GRCm39)	T270A	possibly damaging	Het
Cluh	C	T	11: 74,555,885 (GRCm39)	T816I	possibly damaging	Het
Edn3	A	G	2: 174,603,525 (GRCm39)	H91R	probably benign	Het
Galns	T	A	8: 123,325,895 (GRCm39)	D212V	possibly damaging	Het
Grin2a	A	G	16: 9,475,570 (GRCm39)	V582A	possibly damaging	Het
Hs3st4	T	A	7: 123,996,052 (GRCm39)	N239K	possibly damaging	Het
Kmt2b	C	T	7: 30,276,186 (GRCm39)	W1062*	probably null	Het
Lrp1	T	C	10: 127,377,621 (GRCm39)	N4110S	probably damaging	Het
Mag	T	C	7: 30,599,793 (GRCm39)	H582R	possibly damaging	Het
Maml3	C	T	3: 51,601,931 (GRCm39)		probably benign	Het
Ndufa5	A	G	6: 24,519,246 (GRCm39)	V26A	possibly damaging	Het
Nek10	T	A	14: 14,860,986 (GRCm38)	L513M	possibly damaging	Het
Or13j1	C	T	4: 43,706,194 (GRCm39)	A125T	probably damaging	Het
Or51g2	T	A	7: 102,622,759 (GRCm39)	I147L	probably benign	Het
Or5ac24	T	A	16: 59,165,834 (GRCm39)	T77S	possibly damaging	Het
Plxdc2	A	G	2: 16,716,957 (GRCm39)	H347R	probably benign	Het
Ptprn2	A	G	12: 117,196,985 (GRCm39)		probably null	Het
Rab3gap2	C	T	1: 184,991,563 (GRCm39)	A683V	probably benign	Het
Rnf157	A	G	11: 116,249,496 (GRCm39)	V240A	probably damaging	Het
Slc10a5	A	T	3: 10,399,685 (GRCm39)	V325E	possibly damaging	Het
Slc5a9	C	A	4: 111,748,941 (GRCm39)		probably null	Het
Sptbn2	C	T	19: 4,788,497 (GRCm39)	R1159C	probably damaging	Het
Stk36	A	G	1: 74,642,415 (GRCm39)	D14G	probably damaging	Het
Thap2	T	C	10: 115,208,601 (GRCm39)	K173R	probably damaging	Het
Themis2	G	T	4: 132,510,668 (GRCm39)	Q625K	probably benign	Het
Vcpip1	G	T	1: 9,818,287 (GRCm39)	P32Q	unknown	Het
Vmn1r229	A	T	17: 21,035,081 (GRCm39)	T109S	probably damaging	Het
Vps13b	T	A	15: 35,640,661 (GRCm39)		probably null	Het
Wdr64	A	G	1: 175,526,345 (GRCm39)		probably benign	Het
Wiz	A	G	17: 32,576,602 (GRCm39)	S642P	possibly damaging	Het
Zdhhc1	C	T	8: 106,199,649 (GRCm39)	R383Q	probably benign	Het
Zfp462	T	C	4: 55,060,055 (GRCm39)	S1194P	probably damaging	Het

Other mutations in Fam135a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00987:Fam135a	APN	1	24,094,979 (GRCm39)	missense	probably damaging	1.00
IGL01993:Fam135a	APN	1	24,094,992 (GRCm39)	missense	probably damaging	0.99
IGL02172:Fam135a	APN	1	24,063,861 (GRCm39)	critical splice donor site	probably null
IGL02832:Fam135a	APN	1	24,067,714 (GRCm39)	missense	probably benign	0.00
IGL03075:Fam135a	APN	1	24,069,987 (GRCm39)	splice site	probably benign
IGL03197:Fam135a	APN	1	24,083,263 (GRCm39)	missense	probably damaging	1.00
IGL03214:Fam135a	APN	1	24,092,357 (GRCm39)	missense	probably damaging	1.00
IGL03355:Fam135a	APN	1	24,068,249 (GRCm39)	missense	possibly damaging	0.93
PIT4434001:Fam135a	UTSW	1	24,068,276 (GRCm39)	missense	probably benign
R0276:Fam135a	UTSW	1	24,107,045 (GRCm39)	missense	probably damaging	1.00
R1429:Fam135a	UTSW	1	24,083,348 (GRCm39)	missense	probably damaging	1.00
R1553:Fam135a	UTSW	1	24,060,951 (GRCm39)	missense	probably damaging	0.97
R1582:Fam135a	UTSW	1	24,068,398 (GRCm39)	missense	probably damaging	1.00
R1686:Fam135a	UTSW	1	24,068,887 (GRCm39)	missense	probably benign	0.05
R1732:Fam135a	UTSW	1	24,065,734 (GRCm39)	missense	possibly damaging	0.71
R1859:Fam135a	UTSW	1	24,069,306 (GRCm39)	missense	probably damaging	1.00
R1954:Fam135a	UTSW	1	24,068,683 (GRCm39)	missense	probably damaging	1.00
R2266:Fam135a	UTSW	1	24,067,878 (GRCm39)	missense	probably benign	0.22
R2570:Fam135a	UTSW	1	24,061,045 (GRCm39)	missense	probably damaging	1.00
R3725:Fam135a	UTSW	1	24,096,515 (GRCm39)	nonsense	probably null
R3740:Fam135a	UTSW	1	24,053,892 (GRCm39)	missense	probably damaging	0.99
R3741:Fam135a	UTSW	1	24,053,892 (GRCm39)	missense	probably damaging	0.99
R3765:Fam135a	UTSW	1	24,094,958 (GRCm39)	missense	possibly damaging	0.95
R3792:Fam135a	UTSW	1	24,067,392 (GRCm39)	missense	probably benign	0.14
R3940:Fam135a	UTSW	1	24,096,556 (GRCm39)	missense	probably damaging	0.98
R3946:Fam135a	UTSW	1	24,069,475 (GRCm39)	missense	probably damaging	0.96
R4754:Fam135a	UTSW	1	24,067,835 (GRCm39)	nonsense	probably null
R4794:Fam135a	UTSW	1	24,068,241 (GRCm39)	missense	probably benign	0.36
R4887:Fam135a	UTSW	1	24,063,334 (GRCm39)	nonsense	probably null
R4929:Fam135a	UTSW	1	24,069,081 (GRCm39)	missense	probably benign	0.16
R4999:Fam135a	UTSW	1	24,059,758 (GRCm39)	missense	possibly damaging	0.83
R5092:Fam135a	UTSW	1	24,067,888 (GRCm39)	missense	probably benign	0.11
R5205:Fam135a	UTSW	1	24,068,592 (GRCm39)	missense	probably benign	0.05
R5313:Fam135a	UTSW	1	24,067,666 (GRCm39)	missense	possibly damaging	0.89
R5579:Fam135a	UTSW	1	24,068,808 (GRCm39)	missense	possibly damaging	0.93
R5689:Fam135a	UTSW	1	24,068,134 (GRCm39)	missense	probably benign	0.22
R5863:Fam135a	UTSW	1	24,053,863 (GRCm39)	missense	possibly damaging	0.94
R5869:Fam135a	UTSW	1	24,068,511 (GRCm39)	missense	possibly damaging	0.53
R6128:Fam135a	UTSW	1	24,069,821 (GRCm39)	critical splice donor site	probably null
R6505:Fam135a	UTSW	1	24,053,953 (GRCm39)	missense	probably damaging	1.00
R6668:Fam135a	UTSW	1	24,067,929 (GRCm39)	missense	probably damaging	0.99
R6793:Fam135a	UTSW	1	24,107,006 (GRCm39)	missense	possibly damaging	0.69
R6857:Fam135a	UTSW	1	24,053,870 (GRCm39)	missense	probably damaging	0.99
R6931:Fam135a	UTSW	1	24,124,568 (GRCm39)	start codon destroyed	probably damaging	1.00
R6977:Fam135a	UTSW	1	24,093,179 (GRCm39)	missense	probably damaging	1.00
R7187:Fam135a	UTSW	1	24,083,295 (GRCm39)	missense	probably damaging	1.00
R7206:Fam135a	UTSW	1	24,069,354 (GRCm39)	missense	probably benign	0.14
R7305:Fam135a	UTSW	1	24,069,939 (GRCm39)	missense	probably damaging	1.00
R7313:Fam135a	UTSW	1	24,096,473 (GRCm39)	missense	probably damaging	0.98
R7420:Fam135a	UTSW	1	24,051,567 (GRCm39)	missense	possibly damaging	0.68
R7646:Fam135a	UTSW	1	24,067,704 (GRCm39)	missense	probably benign	0.06
R7661:Fam135a	UTSW	1	24,111,843 (GRCm39)	splice site	probably null
R7681:Fam135a	UTSW	1	24,106,996 (GRCm39)	missense	probably benign	0.03
R7748:Fam135a	UTSW	1	24,068,050 (GRCm39)	missense	probably benign	0.00
R7845:Fam135a	UTSW	1	24,068,738 (GRCm39)	missense	probably benign	0.27
R7849:Fam135a	UTSW	1	24,083,331 (GRCm39)	missense	probably damaging	1.00
R7914:Fam135a	UTSW	1	24,065,760 (GRCm39)	missense	probably damaging	1.00
R8236:Fam135a	UTSW	1	24,059,729 (GRCm39)	splice site	probably null
R8314:Fam135a	UTSW	1	24,061,002 (GRCm39)	missense	possibly damaging	0.84
R8403:Fam135a	UTSW	1	24,067,908 (GRCm39)	missense	probably benign	0.21
R8416:Fam135a	UTSW	1	24,067,675 (GRCm39)	missense	probably benign	0.11
R8420:Fam135a	UTSW	1	24,067,569 (GRCm39)	missense	probably benign	0.24
R8423:Fam135a	UTSW	1	24,060,998 (GRCm39)	missense	probably damaging	0.99
R8745:Fam135a	UTSW	1	24,067,569 (GRCm39)	missense	probably benign	0.24
R8754:Fam135a	UTSW	1	24,067,569 (GRCm39)	missense	probably benign	0.24
R8994:Fam135a	UTSW	1	24,067,621 (GRCm39)	missense	probably damaging	1.00
X0022:Fam135a	UTSW	1	24,069,295 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GGATCCAGACCTTCCTTCTGAC -3'
(R):5'- AAGACTTAGATGCGCCCTG -3'

Sequencing Primer
(F):5'- CTGACTATGTGAAGGACTGCC -3'
(R):5'- CCTGGATGGGAATTCAAAGTCTTCAG -3'

Posted On

2016-03-17