Mutagenetix > Incidental Mutation

Incidental Mutation 'R4397:Fam135b'

325561

Institutional Source

Beutler Lab

Gene Symbol

Fam135b

Ensembl Gene

ENSMUSG00000036800

Gene Name

family with sequence similarity 135, member B

Synonyms

1700010C24Rik, A830008O07Rik

MMRRC Submission

041685-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4397 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

71431609-71727838 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 71448676 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 1334 (H1334L)

Ref Sequence

ENSEMBL: ENSMUSP00000022953 (fasta)

Gene Model

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

AlphaFold

Q9DAI6

Predicted Effect

probably benign
Transcript: ENSMUST00000022953
AA Change: H1334L

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000022953
Gene: ENSMUSG00000036800
AA Change: H1334L

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

noncoding transcript
Transcript: ENSMUST00000229634

Meta Mutation Damage Score

0.0894

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

96% (55/57)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg4	T	G	X: 56,932,343	L2193V	probably damaging	Het
Agap2	G	A	10: 127,090,483	A866T	unknown	Het
Aig1	A	C	10: 13,652,982	S237A	probably benign	Het
Baz1b	C	T	5: 135,244,446	R1475W	probably damaging	Het
Bmp1	C	T	14: 70,490,542		probably null	Het
Crybg3	A	G	16: 59,560,095		probably benign	Het
Dnajc15	T	C	14: 77,874,794		probably null	Het
Fancg	A	T	4: 43,008,897	H113Q	probably benign	Het
Gfap	G	A	11: 102,896,984	A45V	probably benign	Het
Gjd3	A	T	11: 98,982,421	L199Q	probably damaging	Het
Gm8979	A	G	7: 106,082,923		noncoding transcript	Het
H13	A	G	2: 152,677,552	D65G	probably damaging	Het
Hcls1	T	C	16: 36,937,300	V5A	possibly damaging	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Homer3	G	A	8: 70,290,143		probably null	Het
Iqgap3	T	C	3: 88,104,358	Y817H	probably damaging	Het
Iqsec2	C	T	X: 152,209,053	T562I	probably damaging	Het
Klb	A	G	5: 65,380,039	Y904C	probably damaging	Het
Kremen1	A	T	11: 5,199,610	S354T	probably benign	Het
Lamc3	A	G	2: 31,931,952	E1304G	probably benign	Het
Lrp4	T	C	2: 91,511,670	V1876A	probably benign	Het
Magi3	T	C	3: 104,219,714	T85A	probably damaging	Het
Map3k12	C	T	15: 102,501,259	A694T	probably benign	Het
Mex3b	T	C	7: 82,869,823	S449P	possibly damaging	Het
Naip6	C	T	13: 100,300,600	A472T	probably benign	Het
Nars2	T	C	7: 96,973,564		probably null	Het
Nlrp1a	T	G	11: 71,097,204	M1046L	probably benign	Het
Nphs1	T	G	7: 30,481,965		probably null	Het
Nup133	G	A	8: 123,944,301	T119M	probably benign	Het
Olfr770	G	T	10: 129,133,581	N62K	possibly damaging	Het
Pcdhga9	A	T	18: 37,738,641	I508F	probably damaging	Het
Phactr3	A	G	2: 178,175,406		probably benign	Het
Plcb3	T	C	19: 6,965,825	K155E	probably damaging	Het
Plxna2	C	T	1: 194,749,317	S538F	probably damaging	Het
Prss38	T	C	11: 59,373,028	Y286C	probably damaging	Het
Psg16	T	C	7: 17,090,698	S45P	possibly damaging	Het
Ptpn21	G	T	12: 98,688,248	P820Q	probably damaging	Het
Ptpn21	A	G	12: 98,715,060	V105A	probably damaging	Het
Rnf7	A	G	9: 96,478,410	M58T	probably benign	Het
Slc25a11	G	A	11: 70,644,851	A287V	probably benign	Het
Slit2	G	T	5: 48,220,081		probably null	Het
Suco	A	G	1: 161,844,852	Y460H	probably damaging	Het
Tnxb	C	T	17: 34,678,662	Q804*	probably null	Het
Trpv6	A	G	6: 41,625,238	I379T	possibly damaging	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,211,984		probably benign	Het
Virma	A	G	4: 11,513,901	E585G	possibly damaging	Het
Vmn2r79	A	G	7: 87,001,891	H166R	possibly damaging	Het
Vmn2r88	A	T	14: 51,417,978	D549V	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- GACTGTGTGCTCATACCACC -3'
(R):5'- ACAACACTCTGTCGGGTATCTTC -3'

Sequencing Primer
(F):5'- CCATTCCATTCTAGAATCAGTGCAG -3'
(R):5'- CCTTTTCTGGGAAAGACCTCAAAATG -3'

Posted On

2015-07-06