Mutagenetix > Incidental Mutation

Incidental Mutation 'R6887:Fam135b'

537013

Institutional Source

Beutler Lab

Gene Symbol

Fam135b

Ensembl Gene

ENSMUSG00000036800

Gene Name

family with sequence similarity 135, member B

Synonyms

1700010C24Rik, A830008O07Rik

MMRRC Submission

044981-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6887 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71431609-71727838 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 71463315 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 677 (S677A)

Ref Sequence

ENSEMBL: ENSMUSP00000022953 (fasta)

Gene Model

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

AlphaFold

Q9DAI6

Predicted Effect

probably damaging
Transcript: ENSMUST00000022953
AA Change: S677A

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

SMART Domains

Protein: ENSMUSP00000022953
Gene: ENSMUSG00000036800
AA Change: S677A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

Validation Efficiency

100% (39/39)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	G	A	7: 79,092,483 (GRCm38)	V543I	probably damaging	Het
Adcy5	A	G	16: 35,298,590 (GRCm38)	I1104V	possibly damaging	Het
Adgrl4	A	T	3: 151,542,733 (GRCm38)	I681F	possibly damaging	Het
Adgrv1	T	A	13: 81,528,701 (GRCm38)	M2004L	probably benign	Het
Anapc1	A	G	2: 128,659,768 (GRCm38)	S785P	possibly damaging	Het
Ap3d1	A	T	10: 80,723,698 (GRCm38)	I242N	probably damaging	Het
Arhgap5	T	C	12: 52,519,144 (GRCm38)	L966P	probably benign	Het
Atp8a1	T	C	5: 67,738,451 (GRCm38)	T547A	probably benign	Het
Cadps	A	G	14: 12,505,811 (GRCm38)	F753S	probably damaging	Het
Cdc20b	T	C	13: 113,078,653 (GRCm38)	S252P	possibly damaging	Het
Cep63	A	G	9: 102,625,927 (GRCm38)		probably benign	Het
Chrna5	G	T	9: 55,005,133 (GRCm38)	V302L	probably benign	Het
Crtc2	A	G	3: 90,261,071 (GRCm38)	T374A	probably damaging	Het
Dmtf1	T	G	5: 9,137,149 (GRCm38)	D140A	probably damaging	Het
Exosc8	C	T	3: 54,733,699 (GRCm38)	V39M	probably damaging	Het
Hif1an	T	C	19: 44,563,389 (GRCm38)	Y93H	probably damaging	Het
Hrc	T	C	7: 45,335,664 (GRCm38)	F80L	probably benign	Het
Jmjd1c	A	G	10: 67,189,820 (GRCm38)	T139A	possibly damaging	Het
Kdr	T	G	5: 75,968,451 (GRCm38)	R178S	probably benign	Het
Lrrc61	A	C	6: 48,568,432 (GRCm38)	N63T	probably damaging	Het
Mrc1	C	T	2: 14,325,237 (GRCm38)	A1219V	possibly damaging	Het
Neto1	T	C	18: 86,498,635 (GRCm38)	V359A	probably benign	Het
Ngly1	T	C	14: 16,281,836 (GRCm38)	I364T	probably benign	Het
Nisch	C	T	14: 31,185,344 (GRCm38)		probably benign	Het
Olfr1373	C	A	11: 52,145,352 (GRCm38)	M59I	probably benign	Het
Prrc2a	T	C	17: 35,155,675 (GRCm38)	D1333G	probably damaging	Het
Raly	G	T	2: 154,861,910 (GRCm38)	V134F	probably damaging	Het
Rbm6	T	C	9: 107,852,231 (GRCm38)	Y406C	probably damaging	Het
Robo4	G	C	9: 37,402,067 (GRCm38)	E6Q	possibly damaging	Het
Scnn1g	C	A	7: 121,760,444 (GRCm38)	S383R	probably benign	Het
Sgtb	T	C	13: 104,111,151 (GRCm38)	W13R	probably benign	Het
Slit3	T	C	11: 35,544,806 (GRCm38)		probably null	Het
Tbc1d32	G	A	10: 56,151,811 (GRCm38)	Q732*	probably null	Het
Tek	T	A	4: 94,804,944 (GRCm38)	C247S	probably damaging	Het
Tmf1	A	T	6: 97,176,838 (GRCm38)	D91E	probably damaging	Het
Usp39	A	G	6: 72,333,157 (GRCm38)	L326P	probably damaging	Het
Vmn2r7	A	T	3: 64,690,827 (GRCm38)	C770S	probably damaging	Het
Wdr31	C	T	4: 62,457,565 (GRCm38)	G58R	probably benign	Het
Zfyve26	A	G	12: 79,266,449 (GRCm38)	I54T	probably damaging	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
R5469:Fam135b	UTSW	15	71,446,043 (GRCm38)	missense	probably benign	0.16
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
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'- GGCAGGCTCGTGTTACTTTC -3'
(R):5'- TCTTTAAACCAAACGGCTGCTC -3'

Sequencing Primer
(F):5'- TCTGTGTGACCACCCTCCAAAG -3'
(R):5'- TTAAACCAAACGGCTGCTCTTGAG -3'

Posted On

2018-10-18