Mutagenetix > Incidental Mutation

Incidental Mutation 'R0524:Fam135b'

48805

Institutional Source

Beutler Lab

Gene Symbol

Fam135b

Ensembl Gene

ENSMUSG00000036800

Gene Name

family with sequence similarity 135, member B

Synonyms

1700010C24Rik, A830008O07Rik

MMRRC Submission

038717-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0524 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

71431609-71727838 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 71462284 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1020 (D1020E)

Ref Sequence

ENSEMBL: ENSMUSP00000022953 (fasta)

Gene Model

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

AlphaFold

Q9DAI6

Predicted Effect

probably benign
Transcript: ENSMUST00000022953
AA Change: D1020E

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

SMART Domains

Protein: ENSMUSP00000022953
Gene: ENSMUSG00000036800
AA Change: D1020E

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: 99.5%
3x: 98.7%
10x: 96.4%
20x: 92.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd3	CGAGGAGGAGGAGGAGGA	CGAGGAGGAGGAGGA	1: 180,747,059 (GRCm38)		probably benign	Het
Adamts16	T	C	13: 70,800,894 (GRCm38)	E216G	probably benign	Het
Aoc3	C	A	11: 101,337,511 (GRCm38)	P715T	probably damaging	Het
Bnipl	T	C	3: 95,249,829 (GRCm38)	D33G	probably benign	Het
Celsr2	T	C	3: 108,401,587 (GRCm38)	H1701R	probably damaging	Het
Clca3b	T	A	3: 144,825,321 (GRCm38)	H756L	probably benign	Het
Clca4a	A	G	3: 144,969,393 (GRCm38)	W159R	probably damaging	Het
Ddx49	A	T	8: 70,296,924 (GRCm38)	I252N	probably damaging	Het
Duox2	T	C	2: 122,281,836 (GRCm38)	T1290A	possibly damaging	Het
Fam111a	T	A	19: 12,588,048 (GRCm38)	I431K	probably damaging	Het
Flii	A	G	11: 60,720,061 (GRCm38)	V514A	probably damaging	Het
Frmpd1	G	A	4: 45,256,902 (GRCm38)	V157M	probably damaging	Het
Frmpd1	A	G	4: 45,283,774 (GRCm38)	D865G	probably benign	Het
Gm6970	T	A	19: 47,170,494 (GRCm38)	K214M	unknown	Het
Gsr	G	A	8: 33,669,180 (GRCm38)		probably null	Het
Hps3	A	T	3: 20,012,776 (GRCm38)	V542E	probably damaging	Het
Kcnj5	A	G	9: 32,322,974 (GRCm38)	I15T	probably benign	Het
Kif2b	T	C	11: 91,575,724 (GRCm38)	R578G	probably benign	Het
Lamb2	A	G	9: 108,484,372 (GRCm38)	R676G	possibly damaging	Het
Mrpl40	A	G	16: 18,873,552 (GRCm38)	F94S	possibly damaging	Het
Myo7b	C	T	18: 32,013,424 (GRCm38)	V103M	possibly damaging	Het
Nmt2	T	A	2: 3,305,437 (GRCm38)	W69R	probably benign	Het
Nsd3	C	A	8: 25,700,577 (GRCm38)	Q1130K	possibly damaging	Het
Olfml1	T	C	7: 107,590,177 (GRCm38)	S150P	probably damaging	Het
Olfr123	A	T	17: 37,795,605 (GRCm38)	K54*	probably null	Het
Olfr1471	A	G	19: 13,445,864 (GRCm38)	N284S	probably damaging	Het
Pask	A	T	1: 93,310,834 (GRCm38)	W1310R	probably damaging	Het
Pcdh18	T	C	3: 49,755,642 (GRCm38)	Q408R	probably damaging	Het
Pfkm	A	G	15: 98,131,607 (GRCm38)	I700V	probably benign	Het
Pias1	A	G	9: 62,952,178 (GRCm38)	V16A	probably damaging	Het
Pnpla8	C	T	12: 44,283,618 (GRCm38)	Q318*	probably null	Het
Ppp1cc	C	T	5: 122,172,770 (GRCm38)	R142*	probably null	Het
Pygl	T	A	12: 70,207,724 (GRCm38)	N149I	probably damaging	Het
Rapgef6	T	A	11: 54,690,284 (GRCm38)	S1285T	probably benign	Het
Rdh13	A	C	7: 4,444,297 (GRCm38)	C10W	probably damaging	Het
Rgr	A	T	14: 37,038,295 (GRCm38)	C273S	probably benign	Het
Ripk4	G	T	16: 97,755,287 (GRCm38)	Y22*	probably null	Het
Slc34a2	G	A	5: 53,064,873 (GRCm38)	W302*	probably null	Het
Smarce1	G	A	11: 99,214,062 (GRCm38)	T263M	probably damaging	Het
Sypl	C	T	12: 32,967,565 (GRCm38)	P94L	possibly damaging	Het
Tet3	A	G	6: 83,379,942 (GRCm38)	I878T	probably damaging	Het
Tmem232	A	G	17: 65,485,942 (GRCm38)	S87P	probably damaging	Het
Tmem260	A	G	14: 48,472,478 (GRCm38)	T163A	probably benign	Het
Ttn	T	C	2: 76,725,452 (GRCm38)	Y30403C	probably damaging	Het
Ubash3b	A	T	9: 41,016,608 (GRCm38)	M468K	probably benign	Het
Ulk4	A	G	9: 121,252,651 (GRCm38)		probably null	Het
Vmn1r72	A	G	7: 11,669,792 (GRCm38)	F243S	probably benign	Het
Wrap73	A	G	4: 154,145,307 (GRCm38)	Y45C	probably damaging	Het
Zfp704	T	C	3: 9,609,364 (GRCm38)	D119G	unknown	Het
Zfp719	A	G	7: 43,589,253 (GRCm38)		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
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
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'- CCAGCTTGCTGGAGTAGGTAGAAAC -3'
(R):5'- TGCGTGCTCTCCAATAACAGCATC -3'

Sequencing Primer
(F):5'- CTGGAGTAGGTAGAAACAACGC -3'
(R):5'- AGCTGTTGAAGCTGTCAACC -3'

Posted On

2013-06-12