Mutagenetix > Incidental Mutation

Incidental Mutation 'R5469:Fam135b'

433428

Institutional Source

Beutler Lab

Gene Symbol

Fam135b

Ensembl Gene

ENSMUSG00000036800

Gene Name

family with sequence similarity 135, member B

Synonyms

1700010C24Rik, A830008O07Rik

MMRRC Submission

043030-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5469 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

71431609-71727838 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 71446043 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 1357 (T1357S)

Ref Sequence

ENSEMBL: ENSMUSP00000022953 (fasta)

Gene Model

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

AlphaFold

Q9DAI6

Predicted Effect

probably benign
Transcript: ENSMUST00000022953
AA Change: T1357S

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000022953
Gene: ENSMUSG00000036800
AA Change: T1357S

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

Coding Region Coverage

1x: 98.2%
3x: 97.3%
10x: 95.1%
20x: 90.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Allc	A	T	12: 28,555,306 (GRCm38)	N331K	probably benign	Het
Anapc1	G	T	2: 128,675,701 (GRCm38)	S341*	probably null	Het
Cacna1e	T	C	1: 154,443,937 (GRCm38)	E1339G	probably damaging	Het
Cacna2d1	T	A	5: 16,352,678 (GRCm38)	I702N	probably damaging	Het
Casp2	C	A	6: 42,269,334 (GRCm38)	H209N	probably benign	Het
Casr	A	G	16: 36,510,030 (GRCm38)	V314A	probably benign	Het
Ccne2	A	T	4: 11,201,353 (GRCm38)	R294*	probably null	Het
Cd180	T	A	13: 102,704,834 (GRCm38)	H129Q	probably benign	Het
Chst10	A	T	1: 38,865,527 (GRCm38)	Y362N	probably damaging	Het
Ctnna1	T	A	18: 35,239,520 (GRCm38)	D509E	probably benign	Het
Ctsh	G	T	9: 90,060,511 (GRCm38)		probably null	Het
Dhx29	C	T	13: 112,944,539 (GRCm38)	A369V	possibly damaging	Het
Enox1	A	G	14: 77,592,974 (GRCm38)	T340A	probably benign	Het
Flt3	A	T	5: 147,355,083 (GRCm38)	S544T	possibly damaging	Het
Gm12689	T	C	4: 99,296,165 (GRCm38)	I85T	unknown	Het
Gsap	A	T	5: 21,290,544 (GRCm38)	Y831F	possibly damaging	Het
Hnrnpr	C	T	4: 136,319,434 (GRCm38)	T142M	probably damaging	Het
Jak3	A	G	8: 71,678,773 (GRCm38)	D94G	probably benign	Het
Ktn1	A	T	14: 47,690,920 (GRCm38)	E579D	probably damaging	Het
Lama2	G	A	10: 27,041,189 (GRCm38)	P2247S	possibly damaging	Het
Lrba	C	T	3: 86,542,641 (GRCm38)	S2089F	probably damaging	Het
Map1b	C	T	13: 99,429,338 (GRCm38)	V2292M	unknown	Het
Mphosph10	A	T	7: 64,389,445 (GRCm38)		probably null	Het
Pappa	C	T	4: 65,205,152 (GRCm38)	T908M	probably benign	Het
Pdcd10	T	A	3: 75,521,057 (GRCm38)	K150*	probably null	Het
Piezo2	A	T	18: 63,027,864 (GRCm38)	I2275N	probably damaging	Het
Pmvk	T	C	3: 89,467,682 (GRCm38)		probably null	Het
Pold2	G	A	11: 5,873,048 (GRCm38)	P376S	probably damaging	Het
Prtg	A	T	9: 72,891,965 (GRCm38)	Q759L	probably damaging	Het
Rad51ap1	C	T	6: 126,928,227 (GRCm38)	S107N	probably damaging	Het
Rfk	T	A	19: 17,395,202 (GRCm38)	N29K	probably damaging	Het
Ror2	T	C	13: 53,117,339 (GRCm38)	M315V	probably benign	Het
Rrn3	A	G	16: 13,813,100 (GRCm38)	E600G	probably benign	Het
Ryk	A	G	9: 102,906,954 (GRCm38)	Y593C	possibly damaging	Het
Slc30a3	T	A	5: 31,088,660 (GRCm38)	D193V	probably damaging	Het
Slc35e2	C	T	4: 155,610,026 (GRCm38)	P10L	probably benign	Het
Srbd1	C	A	17: 86,119,942 (GRCm38)	C421F	possibly damaging	Het
Sstr5	A	C	17: 25,492,069 (GRCm38)	V62G	probably damaging	Het
Tfip11	G	A	5: 112,334,325 (GRCm38)	W483*	probably null	Het
Tlk1	T	C	2: 70,721,668 (GRCm38)	H553R	probably benign	Het
Tnc	T	C	4: 64,013,925 (GRCm38)		probably null	Het
Trav12-1	A	G	14: 53,538,473 (GRCm38)	T27A	probably damaging	Het
Usp9y	G	A	Y: 1,364,714 (GRCm38)	T1033I	probably benign	Het
V1ra8	C	T	6: 90,203,204 (GRCm38)	H130Y	probably benign	Het
Vmn2r77	A	T	7: 86,802,063 (GRCm38)	M386L	probably benign	Het

Other mutations in Fam135b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Fam135b	APN	15	71,450,494 (GRCm38)	missense	probably damaging	1.00
IGL00565:Fam135b	APN	15	71,471,512 (GRCm38)	missense	probably benign
IGL00645:Fam135b	APN	15	71,462,546 (GRCm38)	missense	probably damaging	1.00
IGL00686:Fam135b	APN	15	71,462,319 (GRCm38)	missense	probably benign	0.00
IGL00857:Fam135b	APN	15	71,463,616 (GRCm38)	missense	probably benign	0.16
IGL01443:Fam135b	APN	15	71,463,364 (GRCm38)	missense	probably benign	0.02
IGL01690:Fam135b	APN	15	71,456,935 (GRCm38)	missense	probably benign	0.19
IGL01920:Fam135b	APN	15	71,622,036 (GRCm38)	missense	possibly damaging	0.94
IGL01987:Fam135b	APN	15	71,462,115 (GRCm38)	missense	probably benign
IGL02154:Fam135b	APN	15	71,448,710 (GRCm38)	missense	probably benign	0.12
IGL03107:Fam135b	APN	15	71,463,561 (GRCm38)	missense	probably benign
IGL03264:Fam135b	APN	15	71,462,788 (GRCm38)	missense	probably benign
IGL03055:Fam135b	UTSW	15	71,622,034 (GRCm38)	missense	possibly damaging	0.51
R0010:Fam135b	UTSW	15	71,622,032 (GRCm38)	missense	probably damaging	1.00
R0010:Fam135b	UTSW	15	71,622,032 (GRCm38)	missense	probably damaging	1.00
R0230:Fam135b	UTSW	15	71,446,037 (GRCm38)	missense	probably benign	0.02
R0413:Fam135b	UTSW	15	71,463,821 (GRCm38)	missense	probably benign	0.45
R0524:Fam135b	UTSW	15	71,462,284 (GRCm38)	missense	probably benign	0.00
R0565:Fam135b	UTSW	15	71,490,837 (GRCm38)	missense	possibly damaging	0.88
R0628:Fam135b	UTSW	15	71,448,656 (GRCm38)	splice site	probably benign
R1415:Fam135b	UTSW	15	71,456,928 (GRCm38)	missense	probably damaging	0.99
R1462:Fam135b	UTSW	15	71,621,996 (GRCm38)	splice site	probably benign
R1701:Fam135b	UTSW	15	71,459,729 (GRCm38)	missense	probably damaging	1.00
R1797:Fam135b	UTSW	15	71,452,441 (GRCm38)	missense	probably benign	0.41
R1807:Fam135b	UTSW	15	71,463,912 (GRCm38)	missense	probably benign
R1835:Fam135b	UTSW	15	71,490,711 (GRCm38)	missense	probably damaging	1.00
R1905:Fam135b	UTSW	15	71,532,987 (GRCm38)	missense	probably damaging	1.00
R1937:Fam135b	UTSW	15	71,622,014 (GRCm38)	missense	probably damaging	1.00
R1998:Fam135b	UTSW	15	71,452,404 (GRCm38)	missense	probably damaging	0.98
R2076:Fam135b	UTSW	15	71,478,243 (GRCm38)	missense	probably damaging	0.99
R2518:Fam135b	UTSW	15	71,463,911 (GRCm38)	missense	probably benign	0.00
R3110:Fam135b	UTSW	15	71,464,030 (GRCm38)	missense	probably benign	0.05
R3112:Fam135b	UTSW	15	71,464,030 (GRCm38)	missense	probably benign	0.05
R3932:Fam135b	UTSW	15	71,450,431 (GRCm38)	missense	probably benign	0.29
R4361:Fam135b	UTSW	15	71,490,827 (GRCm38)	missense	probably damaging	1.00
R4397:Fam135b	UTSW	15	71,448,676 (GRCm38)	missense	probably benign	0.17
R4435:Fam135b	UTSW	15	71,448,739 (GRCm38)	missense	probably damaging	1.00
R4645:Fam135b	UTSW	15	71,462,340 (GRCm38)	missense	probably benign
R4740:Fam135b	UTSW	15	71,464,071 (GRCm38)	missense	probably benign	0.01
R4748:Fam135b	UTSW	15	71,464,055 (GRCm38)	missense	probably benign	0.00
R4754:Fam135b	UTSW	15	71,462,951 (GRCm38)	missense	probably benign	0.01
R5044:Fam135b	UTSW	15	71,462,711 (GRCm38)	missense	probably benign	0.02
R5617:Fam135b	UTSW	15	71,622,016 (GRCm38)	missense	probably damaging	1.00
R5642:Fam135b	UTSW	15	71,462,136 (GRCm38)	missense	probably damaging	1.00
R5778:Fam135b	UTSW	15	71,479,032 (GRCm38)	missense	probably damaging	1.00
R5891:Fam135b	UTSW	15	71,525,803 (GRCm38)	missense	probably damaging	1.00
R5958:Fam135b	UTSW	15	71,462,895 (GRCm38)	missense
R5982:Fam135b	UTSW	15	71,448,669 (GRCm38)	critical splice donor site	probably null
R5987:Fam135b	UTSW	15	71,490,848 (GRCm38)	missense	probably benign	0.00
R6535:Fam135b	UTSW	15	71,622,075 (GRCm38)	missense	probably damaging	0.99
R6734:Fam135b	UTSW	15	71,462,780 (GRCm38)	missense	probably benign	0.02
R6887:Fam135b	UTSW	15	71,463,315 (GRCm38)	missense	probably damaging	1.00
R7028:Fam135b	UTSW	15	71,471,563 (GRCm38)	missense	probably damaging	1.00
R7035:Fam135b	UTSW	15	71,462,253 (GRCm38)	missense	possibly damaging	0.77
R7097:Fam135b	UTSW	15	71,622,068 (GRCm38)	missense	possibly damaging	0.92
R7143:Fam135b	UTSW	15	71,479,151 (GRCm38)	missense	probably benign	0.44
R7414:Fam135b	UTSW	15	71,478,256 (GRCm38)	missense	probably damaging	0.97
R7439:Fam135b	UTSW	15	71,463,680 (GRCm38)	missense	probably damaging	0.98
R7441:Fam135b	UTSW	15	71,463,680 (GRCm38)	missense	probably damaging	0.98
R7545:Fam135b	UTSW	15	71,450,510 (GRCm38)	missense	possibly damaging	0.95
R7615:Fam135b	UTSW	15	71,463,323 (GRCm38)	missense	probably damaging	1.00
R7642:Fam135b	UTSW	15	71,479,142 (GRCm38)	missense	possibly damaging	0.51
R7649:Fam135b	UTSW	15	71,462,580 (GRCm38)	missense	probably benign	0.00
R7686:Fam135b	UTSW	15	71,463,384 (GRCm38)	missense	possibly damaging	0.68
R7866:Fam135b	UTSW	15	71,462,076 (GRCm38)	missense	probably benign	0.00
R8006:Fam135b	UTSW	15	71,462,334 (GRCm38)	missense	probably benign	0.00
R8068:Fam135b	UTSW	15	71,532,978 (GRCm38)	missense	probably damaging	1.00
R8167:Fam135b	UTSW	15	71,532,991 (GRCm38)	missense	probably null	1.00
R8252:Fam135b	UTSW	15	71,533,023 (GRCm38)	missense	probably benign	0.10
R8548:Fam135b	UTSW	15	71,462,810 (GRCm38)	missense	probably damaging	0.99
R8833:Fam135b	UTSW	15	71,462,934 (GRCm38)	missense	probably benign	0.04
R8955:Fam135b	UTSW	15	71,462,214 (GRCm38)	missense	possibly damaging	0.85
R8961:Fam135b	UTSW	15	71,532,963 (GRCm38)	missense	probably damaging	1.00
R8987:Fam135b	UTSW	15	71,462,340 (GRCm38)	missense	probably benign	0.00
R9149:Fam135b	UTSW	15	71,462,895 (GRCm38)	missense
R9161:Fam135b	UTSW	15	71,462,568 (GRCm38)	missense	possibly damaging	0.91
R9227:Fam135b	UTSW	15	71,464,007 (GRCm38)	missense	probably benign	0.28
R9230:Fam135b	UTSW	15	71,464,007 (GRCm38)	missense	probably benign	0.28
R9365:Fam135b	UTSW	15	71,462,964 (GRCm38)	missense	probably benign	0.00
R9622:Fam135b	UTSW	15	71,525,837 (GRCm38)	missense	probably damaging	0.98
R9758:Fam135b	UTSW	15	71,452,350 (GRCm38)	missense	probably benign	0.28
R9759:Fam135b	UTSW	15	71,463,840 (GRCm38)	missense	probably benign	0.44
T0722:Fam135b	UTSW	15	71,463,885 (GRCm38)	missense	probably damaging	1.00
T0975:Fam135b	UTSW	15	71,463,885 (GRCm38)	missense	probably damaging	1.00
Z1177:Fam135b	UTSW	15	71,622,076 (GRCm38)	start codon destroyed	probably null	0.06

Predicted Primers

PCR Primer
(F):5'- TGATCTTGAGCAGCTCTGGAC -3'
(R):5'- GCATGCTAATCTTACCAACTGTAG -3'

Sequencing Primer
(F):5'- TTGAGCAGCTCTGGACAGTCAC -3'
(R):5'- GCATATTTGTATCTGCTAGTATGAGG -3'

Posted On

2016-10-06