Mutagenetix > Incidental Mutations

Incidental Mutation 'R4794:Fam135a'

368817

Institutional Source

Beutler Lab

Gene Symbol

Fam135a

Ensembl Gene

ENSMUSG00000026153

Gene Name

family with sequence similarity 135, member A

Synonyms

4921533L14Rik

MMRRC Submission

042420-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.514) question?

Stock #

R4794 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24011093-24100341 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 24029160 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 706 (T706I)

Ref Sequence

ENSEMBL: ENSMUSP00000140198 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000027337
AA Change: T876I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000027337
Gene: ENSMUSG00000026153
AA Change: T876I

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
AA Change: T706I

PolyPhen 2 Score 0.363 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000140198
Gene: ENSMUSG00000026153
AA Change: T706I

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
AA Change: T680I

PolyPhen 2 Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000140766
Gene: ENSMUSG00000026153
AA Change: T680I

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
AA Change: T663I

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000139633
Gene: ENSMUSG00000026153
AA Change: T663I

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

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.5%

Validation Efficiency

97% (75/77)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam4	A	T	12: 81,421,424	I141K	probably damaging	Het
Adgrb1	A	G	15: 74,588,129	E537G	probably damaging	Het
Asic3	C	T	5: 24,415,897	A259V	probably damaging	Het
Bcar1	G	A	8: 111,720,920	Q142*	probably null	Het
Bcas3	T	C	11: 85,509,468	V200A	probably damaging	Het
Cd302	A	T	2: 60,272,149	I42N	probably benign	Het
Colec12	C	A	18: 9,848,984	N387K	probably damaging	Het
Copa	T	A	1: 172,119,321	I1032N	probably damaging	Het
D630003M21Rik	G	C	2: 158,196,139	T1129S	probably benign	Het
D630045J12Rik	G	A	6: 38,194,485	T916I	possibly damaging	Het
Dnajb13	C	T	7: 100,503,992	A241T	probably damaging	Het
Dyrk4	G	T	6: 126,885,337	N397K	possibly damaging	Het
Eftud2	T	A	11: 102,870,177	Y114F	probably benign	Het
Epm2a	A	G	10: 11,390,853	D114G	probably benign	Het
Exoc5	T	C	14: 49,048,900		probably null	Het
Fasn	A	G	11: 120,811,295	V1845A	probably benign	Het
Fscn3	A	G	6: 28,430,596	E255G	probably damaging	Het
Galnt7	A	T	8: 57,545,363	Y311N	probably damaging	Het
Gm13757	A	T	2: 88,446,347	M197K	probably benign	Het
Gm5724	A	G	6: 141,767,562	V31A	probably benign	Het
Gm8765	C	G	13: 50,703,239	P971R	probably benign	Het
Grid1	T	C	14: 34,822,622	L50P	probably damaging	Het
Hepacam2	A	G	6: 3,475,933	F331L	probably damaging	Het
Ikbkap	ACTTCTTCTTCTTCTTCTTCTTC	ACTTCTTCTTCTTCTTCTTC	4: 56,781,176		probably benign	Het
Kalrn	C	T	16: 33,989,810	D2525N	possibly damaging	Het
Kif1a	T	C	1: 93,025,727	Y1245C	probably damaging	Het
Ltbp3	T	C	19: 5,756,679	F1022L	probably damaging	Het
Med16	G	T	10: 79,900,117	T399N	probably damaging	Het
Mfsd14a	A	T	3: 116,645,506		probably benign	Het
Myh7b	G	A	2: 155,623,266	V681I	probably benign	Het
Ndc1	A	G	4: 107,390,222	E409G	probably benign	Het
Necap2	A	G	4: 141,071,601		probably benign	Het
Olfr47	T	A	6: 43,235,695	L29H	probably damaging	Het
Olfr847	C	T	9: 19,375,545	S112N	probably benign	Het
Parp12	G	A	6: 39,117,810	T117I	probably benign	Het
Pars2	C	A	4: 106,654,210	C396*	probably null	Het
Prg4	A	T	1: 150,454,546		probably benign	Het
Prkg2	G	A	5: 98,966,633	T523I	probably damaging	Het
Prph	T	A	15: 99,057,427	L425Q	probably damaging	Het
Ranbp9	A	G	13: 43,414,076	Y549H	probably damaging	Het
Rbm12	A	T	2: 156,095,569		probably benign	Het
Reln	T	C	5: 22,344,185	Y75C	probably damaging	Het
Rock2	G	A	12: 16,940,407	R110H	probably damaging	Het
Samd1	G	A	8: 83,999,717	E468K	probably damaging	Het
Samd11	T	A	4: 156,249,465	Q173L	probably damaging	Het
Scgb2b20	C	A	7: 33,365,726	G37V	probably damaging	Het
Sf1	C	A	19: 6,375,664		probably benign	Het
Slc17a5	T	A	9: 78,574,715	H183L	probably damaging	Het
Smgc	T	A	15: 91,841,454	S13T	probably benign	Het
Snapin	A	G	3: 90,490,785		probably benign	Het
Ssc5d	C	T	7: 4,943,745	P1033S	probably benign	Het
Strn3	T	C	12: 51,650,171	E259G	probably benign	Het
Tbc1d32	A	G	10: 56,196,836	F238L	possibly damaging	Het
Tbck	G	A	3: 132,686,968	V57M	possibly damaging	Het
Tgm3	A	G	2: 130,041,955	D511G	probably benign	Het
Tlr5	T	C	1: 182,973,896	V241A	probably benign	Het
Tmem181c-ps	A	G	17: 6,620,355		noncoding transcript	Het
Tnfrsf1a	G	A	6: 125,358,084	C168Y	probably damaging	Het
Tph2	G	T	10: 115,182,770	L79I	possibly damaging	Het
Tsc1	G	A	2: 28,661,690		probably null	Het
Ttc14	A	T	3: 33,803,149	M215L	probably benign	Het
Ube3c	A	G	5: 29,597,085	N120S	probably benign	Het
Ubr2	A	T	17: 46,930,445	W1728R	probably damaging	Het
Vnn1	A	G	10: 23,900,704	T318A	probably benign	Het
Washc2	T	C	6: 116,258,649	V941A	probably benign	Het
Wdfy3	A	G	5: 101,943,943	V510A	probably damaging	Het
Wdsub1	A	T	2: 59,862,844	V272E	possibly damaging	Het
Xylt1	A	C	7: 117,637,635	D537A	probably benign	Het
Zfp57	A	G	17: 37,010,130	N292S	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
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
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
R7928:Fam135a	UTSW	1	24029657	missense	probably benign	0.27
R7932:Fam135a	UTSW	1	24044250	missense	probably damaging	1.00
X0022:Fam135a	UTSW	1	24030214	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TAGATGTACCCTGACTCTGGG -3'
(R):5'- AGTCATTGCACTGAGAGCAC -3'

Sequencing Primer
(F):5'- CAAATGAGGTTTGGAGCCCC -3'
(R):5'- TCATTGCACTGAGAGCACAAGTG -3'

Posted On

2016-02-04