Mutagenetix > Incidental Mutation

Incidental Mutation 'R8006:Fam135b'

616648

Institutional Source

Beutler Lab

Gene Symbol

Fam135b

Ensembl Gene

ENSMUSG00000036800

Gene Name

family with sequence similarity 135, member B

Synonyms

1700010C24Rik, A830008O07Rik

MMRRC Submission

046046-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8006 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

71431609-71727838 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 71462334 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1004 (T1004A)

Ref Sequence

ENSEMBL: ENSMUSP00000022953 (fasta)

Gene Model

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

AlphaFold

Q9DAI6

Predicted Effect

probably benign
Transcript: ENSMUST00000022953
AA Change: T1004A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000022953
Gene: ENSMUSG00000036800
AA Change: T1004A

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam20	T	A	8: 40,795,907 (GRCm38)	H351Q	probably benign	Het
Ahnak	T	C	19: 9,012,083 (GRCm38)	V3577A	possibly damaging	Het
Akap13	T	C	7: 75,579,696 (GRCm38)	S126P	probably damaging	Het
Akip1	A	G	7: 109,703,992 (GRCm38)	D14G	probably damaging	Het
Ankhd1	A	G	18: 36,648,719 (GRCm38)	R287G		Het
Ankrd13a	A	C	5: 114,804,423 (GRCm38)	*589S	probably null	Het
Ankrd34c	T	C	9: 89,729,836 (GRCm38)	I151V	probably damaging	Het
Ano5	T	A	7: 51,593,770 (GRCm38)	D880E	probably benign	Het
Arl3	A	C	19: 46,558,374 (GRCm38)	L4R	probably damaging	Het
Ate1	T	A	7: 130,467,388 (GRCm38)	Q340L	probably damaging	Het
Ccdc38	A	T	10: 93,555,586 (GRCm38)		probably null	Het
Celsr3	C	T	9: 108,829,107 (GRCm38)	P930S	probably damaging	Het
Cfhr4	A	G	1: 139,736,852 (GRCm38)	Y490H	probably damaging	Het
Cox18	C	T	5: 90,223,813 (GRCm38)	V43M	probably damaging	Het
Ctnna3	A	G	10: 63,582,011 (GRCm38)	K176R	probably benign	Het
Fam227a	A	G	15: 79,634,098 (GRCm38)	I335T	possibly damaging	Het
Gm14496	A	G	2: 181,995,876 (GRCm38)	I248V	probably benign	Het
Gm6871	T	C	7: 41,545,682 (GRCm38)	T544A	probably benign	Het
Grm6	A	T	11: 50,864,657 (GRCm38)	*872L	probably null	Het
Herc1	T	A	9: 66,445,560 (GRCm38)	Y2109*	probably null	Het
Hsd11b2	T	A	8: 105,519,103 (GRCm38)	V80E	possibly damaging	Het
Itgb3	T	C	11: 104,665,496 (GRCm38)	V721A	possibly damaging	Het
Jade1	A	T	3: 41,613,689 (GRCm38)	I731L	probably benign	Het
Khnyn	G	A	14: 55,887,590 (GRCm38)	V434I	probably benign	Het
Lrp1	A	G	10: 127,589,619 (GRCm38)	L714P	probably damaging	Het
Lrrc41	G	A	4: 116,094,888 (GRCm38)	E585K	possibly damaging	Het
Lrrfip1	A	G	1: 91,076,951 (GRCm38)	Y70C	probably damaging	Het
Mex3a	T	A	3: 88,537,086 (GRCm38)	C490S	probably damaging	Het
Mmp27	C	T	9: 7,578,984 (GRCm38)	R387C	probably damaging	Het
Mro	A	T	18: 73,877,506 (GRCm38)	D219V	possibly damaging	Het
Myot	T	A	18: 44,354,837 (GRCm38)	L407Q	probably damaging	Het
Nppa	T	A	4: 148,001,181 (GRCm38)	W82R	probably damaging	Het
Or10g6	T	G	9: 40,022,474 (GRCm38)	L27R	probably damaging	Het
Or52a20	T	A	7: 103,717,325 (GRCm38)	C244S	probably damaging	Het
Or5ak24	T	C	2: 85,429,974 (GRCm38)	N285S	probably damaging	Het
Phip	T	A	9: 82,890,126 (GRCm38)	I1123L	possibly damaging	Het
Ppip5k2	A	G	1: 97,734,106 (GRCm38)	I695T	probably benign	Het
Ppp1r10	A	T	17: 35,928,266 (GRCm38)	M347L	probably benign	Het
Reln	A	T	5: 21,899,084 (GRCm38)	C3296*	probably null	Het
Semp2l1	T	A	1: 32,546,924 (GRCm38)		probably benign	Het
Slf2	T	A	19: 44,942,317 (GRCm38)	L611Q	probably damaging	Het
Spire1	G	A	18: 67,501,181 (GRCm38)	Q396*	probably null	Het
Taf2	A	G	15: 55,048,701 (GRCm38)	F537L	probably damaging	Het
Tbc1d16	C	T	11: 119,156,072 (GRCm38)	E451K	probably damaging	Het
Tcof1	G	C	18: 60,829,051 (GRCm38)	A702G	possibly damaging	Het
Tmem267	T	A	13: 119,609,238 (GRCm38)	V143E	probably damaging	Het
Tyw1	C	T	5: 130,268,072 (GRCm38)	R177W	possibly damaging	Het
Vcp	A	T	4: 42,985,993 (GRCm38)	H340Q	probably benign	Het
Vmn2r14	A	T	5: 109,220,458 (GRCm38)	L223M	probably benign	Het
Wnk4	A	G	11: 101,268,356 (GRCm38)	D533G	probably benign	Het
Wwp1	A	T	4: 19,650,174 (GRCm38)	C331S	probably benign	Het
Zik1	A	T	7: 10,490,173 (GRCm38)	C332*	probably null	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
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
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'- CAGCTTGCTGGAGTAGGTAG -3'
(R):5'- CAGTTGTTCACCAGCTGTTG -3'

Sequencing Primer
(F):5'- CTTGCTGGAGTAGGTAGAAACAAC -3'
(R):5'- GAAGCTGTCAACCTGAATTCTACAG -3'

Posted On

2020-01-23