Mutagenetix > Incidental Mutation

Incidental Mutation 'R3765:Fam135a'

274631

Institutional Source

Beutler Lab

Gene Symbol

Fam135a

Ensembl Gene

ENSMUSG00000026153

Gene Name

family with sequence similarity 135, member A

Synonyms

4921533L14Rik

MMRRC Submission

040742-MU

Accession Numbers

Essential gene?

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

Stock #

R3765 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24011093-24100341 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24055877 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 137 (T137A)

Ref Sequence

ENSEMBL: ENSMUSP00000027337 (fasta)

Gene Model

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

AlphaFold

Q6NS59

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027337
AA Change: T137A

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000027337
Gene: ENSMUSG00000026153
AA Change: T137A

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

noncoding transcript
Transcript: ENSMUST00000185525

Predicted Effect

probably benign
Transcript: ENSMUST00000186999
AA Change: T137A

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000140198
Gene: ENSMUSG00000026153
AA Change: T137A

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

possibly damaging
Transcript: ENSMUST00000187369
AA Change: T137A

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000140766
Gene: ENSMUSG00000026153
AA Change: T137A

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

possibly damaging
Transcript: ENSMUST00000187752
AA Change: T94A

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000139633
Gene: ENSMUSG00000026153
AA Change: T94A

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

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	T	C	7: 75,608,837	V403A	probably benign	Het
Arid2	T	C	15: 96,370,714	S903P	probably benign	Het
Arl6ip6	T	A	2: 53,192,231	W37R	probably damaging	Het
Bag3	C	T	7: 128,540,271	T162I	probably benign	Het
C4b	G	A	17: 34,729,840	P1545S	probably damaging	Het
Ccdc185	T	A	1: 182,747,552	H524L	possibly damaging	Het
Cfap43	T	C	19: 47,835,575	N119S	probably benign	Het
Churc1	C	A	12: 76,773,283	S22*	probably null	Het
Crbn	T	C	6: 106,795,026	K106E	possibly damaging	Het
Dag1	C	T	9: 108,208,199	G581E	probably damaging	Het
Dpp4	T	A	2: 62,386,436	T92S	probably benign	Het
Fermt1	T	C	2: 132,906,702	D667G	possibly damaging	Het
Foxl2	T	A	9: 98,955,986	I109N	probably damaging	Het
Frk	A	G	10: 34,484,005	M1V	probably null	Het
Fuk	A	G	8: 110,887,104	I775T	probably benign	Het
Gstm2	A	G	3: 107,984,030	F124S	probably damaging	Het
Hmcn1	T	C	1: 150,745,025	S1145G	possibly damaging	Het
Ints10	A	G	8: 68,825,119	T682A	possibly damaging	Het
Jmy	T	C	13: 93,464,711	M396V	possibly damaging	Het
Ldb3	A	T	14: 34,578,682		probably null	Het
Mre11a	A	G	9: 14,809,847	N354S	probably benign	Het
Nbea	A	G	3: 56,005,549	V939A	probably damaging	Het
Nphs1	T	C	7: 30,471,210	S928P	probably damaging	Het
Olfr1463	G	A	19: 13,234,431	M60I	probably damaging	Het
Olfr19	A	G	16: 16,673,315	V222A	probably benign	Het
Olfr311	T	C	11: 58,841,294	F60S	probably damaging	Het
Olfr954	T	A	9: 39,461,624	Y61*	probably null	Het
Pla2g12b	G	A	10: 59,421,501	V169M	probably damaging	Het
Polr1c	C	T	17: 46,247,924	V14M	probably damaging	Het
Prg4	G	A	1: 150,451,371	S898L	probably damaging	Het
Prmt6	C	A	3: 110,250,194	E260*	probably null	Het
Ptx4	A	G	17: 25,122,868	T106A	probably benign	Het
Rab3il1	A	G	19: 10,028,309	T87A	probably damaging	Het
Sbf2	A	G	7: 110,375,581	V783A	probably damaging	Het
Scn2a	A	C	2: 65,682,710	D209A	possibly damaging	Het
Setd2	T	C	9: 110,594,246	L345P	probably damaging	Het
Slc18b1	A	G	10: 23,798,749	D34G	probably damaging	Het
Slc9c1	A	T	16: 45,590,881	M934L	possibly damaging	Het
Slx4	A	G	16: 3,980,986	V1357A	probably damaging	Het
Spidr	T	C	16: 15,968,640	E413G	probably benign	Het
Taar1	A	G	10: 23,921,307	Y301C	probably damaging	Het
Tada2b	A	T	5: 36,476,417	D197E	probably benign	Het
Taf1c	G	T	8: 119,600,485	Y418*	probably null	Het
Tanc2	A	G	11: 105,914,970	D394G	probably damaging	Het
Tnpo3	T	C	6: 29,579,689	D235G	probably benign	Het
Tns3	G	A	11: 8,451,133	A1055V	probably benign	Het
Wdfy3	A	G	5: 101,861,400	Y2767H	probably damaging	Het
Zfhx3	A	G	8: 108,792,762	N172S	probably damaging	Het
Zfp839	T	C	12: 110,855,163	V137A	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
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
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'- CAGCATGAAACAGAAAGGCTTTAC -3'
(R):5'- GGGTTGAATCTCACTGTTCTCAC -3'

Sequencing Primer
(F):5'- GGTGTAGTGCAACCAATG -3'
(R):5'- TTCTCACACTGCCGCGG -3'

Posted On

2015-04-02