Mutagenetix > Incidental Mutation

Incidental Mutation 'R0010:Fam135b'

7980

Institutional Source

Beutler Lab

Gene Symbol

Fam135b

Ensembl Gene

ENSMUSG00000036800

Gene Name

family with sequence similarity 135, member B

Synonyms

1700010C24Rik, A830008O07Rik

MMRRC Submission

038305-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0010 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

71431609-71727838 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 71622032 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 16 (K16R)

Ref Sequence

ENSEMBL: ENSMUSP00000155239 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022953] [ENSMUST00000229189]

AlphaFold

Q9DAI6

Predicted Effect

probably damaging
Transcript: ENSMUST00000022953
AA Change: K16R

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

SMART Domains

Protein: ENSMUSP00000022953
Gene: ENSMUSG00000036800
AA Change: K16R

Domain	Start	End	E-Value	Type
Pfam:DUF3657	111	172	1.9e-19	PFAM
low complexity region	744	757	N/A	INTRINSIC
low complexity region	1124	1130	N/A	INTRINSIC
Pfam:DUF676	1132	1328	2.7e-60	PFAM
Pfam:PGAP1	1135	1309	3.2e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000229189
AA Change: K16R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230569

Meta Mutation Damage Score

0.1526

Coding Region Coverage

1x: 79.6%
3x: 70.9%
10x: 47.0%
20x: 26.4%

Validation Efficiency

91% (78/86)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	C	T	5: 81,792,403	A1320V	possibly damaging	Het
Ahrr	G	A	13: 74,283,024		probably benign	Het
BC037034	T	C	5: 138,260,293		probably null	Het
Cd74	A	T	18: 60,809,071	H124L	probably benign	Het
Cdk5rap2	T	C	4: 70,243,459	E270G	probably benign	Het
Cldnd1	T	A	16: 58,731,259		probably benign	Het
Dennd4a	T	C	9: 64,896,715	L1112P	probably benign	Het
Evc2	T	A	5: 37,417,449	L1016Q	probably damaging	Het
Frem1	T	C	4: 83,000,098	I536V	probably benign	Het
Ginm1	T	C	10: 7,775,374		probably benign	Het
Glrb	A	T	3: 80,860,315		probably benign	Het
Glt6d1	C	A	2: 25,794,727		probably null	Het
Gm10320	T	C	13: 98,489,546	Y110C	probably damaging	Het
Intu	T	C	3: 40,654,272		probably benign	Het
Ltbp1	A	G	17: 75,363,391	T1476A	probably damaging	Het
Mcoln2	C	T	3: 146,183,561	T374M	probably damaging	Het
Mitf	A	G	6: 97,807,281	K33R	probably benign	Het
Nlgn1	G	T	3: 25,435,842		probably benign	Het
Nup133	A	T	8: 123,904,579	I1072N	probably damaging	Het
Rock1	T	A	18: 10,084,380	D951V	probably damaging	Het
Scgb2b26	T	A	7: 33,944,349	E55D	probably damaging	Het
Scn8a	T	C	15: 101,013,573	V958A	probably damaging	Het
Sgk1	G	A	10: 21,997,438		probably null	Het
Shprh	C	T	10: 11,151,931	T94I	probably benign	Het
Smg1	A	T	7: 118,171,859		probably benign	Het
Spta1	G	A	1: 174,217,943	V1556I	probably benign	Het
Trappc4	G	A	9: 44,405,231		probably benign	Het
Txlna	T	G	4: 129,629,086	D487A	probably benign	Het
Ube2d2b	T	C	5: 107,830,636	F51S	possibly damaging	Het
Wdfy3	T	C	5: 101,848,349	T3234A	probably damaging	Het
Zbtb41	T	G	1: 139,423,530	V127G	probably damaging	Het
Zfp608	A	T	18: 54,895,214		probably benign	Het

Other mutations in Fam135b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Fam135b	APN	15	71450494	missense	probably damaging	1.00
IGL00565:Fam135b	APN	15	71471512	missense	probably benign
IGL00645:Fam135b	APN	15	71462546	missense	probably damaging	1.00
IGL00686:Fam135b	APN	15	71462319	missense	probably benign	0.00
IGL00857:Fam135b	APN	15	71463616	missense	probably benign	0.16
IGL01443:Fam135b	APN	15	71463364	missense	probably benign	0.02
IGL01690:Fam135b	APN	15	71456935	missense	probably benign	0.19
IGL01920:Fam135b	APN	15	71622036	missense	possibly damaging	0.94
IGL01987:Fam135b	APN	15	71462115	missense	probably benign
IGL02154:Fam135b	APN	15	71448710	missense	probably benign	0.12
IGL03107:Fam135b	APN	15	71463561	missense	probably benign
IGL03264:Fam135b	APN	15	71462788	missense	probably benign
IGL03055:Fam135b	UTSW	15	71622034	missense	possibly damaging	0.51
R0010:Fam135b	UTSW	15	71622032	missense	probably damaging	1.00
R0230:Fam135b	UTSW	15	71446037	missense	probably benign	0.02
R0413:Fam135b	UTSW	15	71463821	missense	probably benign	0.45
R0524:Fam135b	UTSW	15	71462284	missense	probably benign	0.00
R0565:Fam135b	UTSW	15	71490837	missense	possibly damaging	0.88
R0628:Fam135b	UTSW	15	71448656	splice site	probably benign
R1415:Fam135b	UTSW	15	71456928	missense	probably damaging	0.99
R1462:Fam135b	UTSW	15	71621996	splice site	probably benign
R1701:Fam135b	UTSW	15	71459729	missense	probably damaging	1.00
R1797:Fam135b	UTSW	15	71452441	missense	probably benign	0.41
R1807:Fam135b	UTSW	15	71463912	missense	probably benign
R1835:Fam135b	UTSW	15	71490711	missense	probably damaging	1.00
R1905:Fam135b	UTSW	15	71532987	missense	probably damaging	1.00
R1937:Fam135b	UTSW	15	71622014	missense	probably damaging	1.00
R1998:Fam135b	UTSW	15	71452404	missense	probably damaging	0.98
R2076:Fam135b	UTSW	15	71478243	missense	probably damaging	0.99
R2518:Fam135b	UTSW	15	71463911	missense	probably benign	0.00
R3110:Fam135b	UTSW	15	71464030	missense	probably benign	0.05
R3112:Fam135b	UTSW	15	71464030	missense	probably benign	0.05
R3932:Fam135b	UTSW	15	71450431	missense	probably benign	0.29
R4361:Fam135b	UTSW	15	71490827	missense	probably damaging	1.00
R4397:Fam135b	UTSW	15	71448676	missense	probably benign	0.17
R4435:Fam135b	UTSW	15	71448739	missense	probably damaging	1.00
R4645:Fam135b	UTSW	15	71462340	missense	probably benign
R4740:Fam135b	UTSW	15	71464071	missense	probably benign	0.01
R4748:Fam135b	UTSW	15	71464055	missense	probably benign	0.00
R4754:Fam135b	UTSW	15	71462951	missense	probably benign	0.01
R5044:Fam135b	UTSW	15	71462711	missense	probably benign	0.02
R5469:Fam135b	UTSW	15	71446043	missense	probably benign	0.16
R5617:Fam135b	UTSW	15	71622016	missense	probably damaging	1.00
R5642:Fam135b	UTSW	15	71462136	missense	probably damaging	1.00
R5778:Fam135b	UTSW	15	71479032	missense	probably damaging	1.00
R5891:Fam135b	UTSW	15	71525803	missense	probably damaging	1.00
R5958:Fam135b	UTSW	15	71462895	missense
R5982:Fam135b	UTSW	15	71448669	critical splice donor site	probably null
R5987:Fam135b	UTSW	15	71490848	missense	probably benign	0.00
R6535:Fam135b	UTSW	15	71622075	missense	probably damaging	0.99
R6734:Fam135b	UTSW	15	71462780	missense	probably benign	0.02
R6887:Fam135b	UTSW	15	71463315	missense	probably damaging	1.00
R7028:Fam135b	UTSW	15	71471563	missense	probably damaging	1.00
R7035:Fam135b	UTSW	15	71462253	missense	possibly damaging	0.77
R7097:Fam135b	UTSW	15	71622068	missense	possibly damaging	0.92
R7143:Fam135b	UTSW	15	71479151	missense	probably benign	0.44
R7414:Fam135b	UTSW	15	71478256	missense	probably damaging	0.97
R7439:Fam135b	UTSW	15	71463680	missense	probably damaging	0.98
R7441:Fam135b	UTSW	15	71463680	missense	probably damaging	0.98
R7545:Fam135b	UTSW	15	71450510	missense	possibly damaging	0.95
R7615:Fam135b	UTSW	15	71463323	missense	probably damaging	1.00
R7642:Fam135b	UTSW	15	71479142	missense	possibly damaging	0.51
R7649:Fam135b	UTSW	15	71462580	missense	probably benign	0.00
R7686:Fam135b	UTSW	15	71463384	missense	possibly damaging	0.68
R7866:Fam135b	UTSW	15	71462076	missense	probably benign	0.00
R8006:Fam135b	UTSW	15	71462334	missense	probably benign	0.00
R8068:Fam135b	UTSW	15	71532978	missense	probably damaging	1.00
R8167:Fam135b	UTSW	15	71532991	missense	probably null	1.00
R8252:Fam135b	UTSW	15	71533023	missense	probably benign	0.10
R8548:Fam135b	UTSW	15	71462810	missense	probably damaging	0.99
R8833:Fam135b	UTSW	15	71462934	missense	probably benign	0.04
R8955:Fam135b	UTSW	15	71462214	missense	possibly damaging	0.85
R8961:Fam135b	UTSW	15	71532963	missense	probably damaging	1.00
R8987:Fam135b	UTSW	15	71462340	missense	probably benign	0.00
R9149:Fam135b	UTSW	15	71462895	missense
R9161:Fam135b	UTSW	15	71462568	missense	possibly damaging	0.91
R9227:Fam135b	UTSW	15	71464007	missense	probably benign	0.28
R9230:Fam135b	UTSW	15	71464007	missense	probably benign	0.28
R9365:Fam135b	UTSW	15	71462964	missense	probably benign	0.00
R9622:Fam135b	UTSW	15	71525837	missense	probably damaging	0.98
R9758:Fam135b	UTSW	15	71452350	missense	probably benign	0.28
R9759:Fam135b	UTSW	15	71463840	missense	probably benign	0.44
T0722:Fam135b	UTSW	15	71463885	missense	probably damaging	1.00
T0975:Fam135b	UTSW	15	71463885	missense	probably damaging	1.00
Z1177:Fam135b	UTSW	15	71622076	start codon destroyed	probably null	0.06

Posted On

2012-11-20