Mutagenetix > Incidental Mutation

Incidental Mutation 'R8548:Fam135b'

659755

Institutional Source

Beutler Lab

Gene Symbol

Fam135b

Ensembl Gene

ENSMUSG00000036800

Gene Name

family with sequence similarity 135, member B

Synonyms

1700010C24Rik, A830008O07Rik

MMRRC Submission

068513-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8548 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

71310800-71600282 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 71334659 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 845 (D845G)

Ref Sequence

ENSEMBL: ENSMUSP00000022953 (fasta)

Gene Model

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

AlphaFold

Q9DAI6

Predicted Effect

probably damaging
Transcript: ENSMUST00000022953
AA Change: D845G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000022953
Gene: ENSMUSG00000036800
AA Change: D845G

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: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1a	A	T	5: 121,658,165 (GRCm39)	L376Q	probably damaging	Het
Akirin1	A	G	4: 123,631,831 (GRCm39)	M179T	possibly damaging	Het
Ap5b1	G	T	19: 5,621,123 (GRCm39)	V848L	possibly damaging	Het
Apoa2	T	A	1: 171,053,798 (GRCm39)	M91K	probably benign	Het
Bsn	G	A	9: 107,988,651 (GRCm39)	A2367V	probably benign	Het
Cdc20	A	C	4: 118,293,535 (GRCm39)	S160A	possibly damaging	Het
Cftr	G	T	6: 18,273,698 (GRCm39)	V839L	possibly damaging	Het
Ctf1	A	T	7: 127,316,564 (GRCm39)	H171L	probably benign	Het
Dmac2	T	A	7: 25,324,217 (GRCm39)	M225K	probably damaging	Het
Dmbx1	A	T	4: 115,777,512 (GRCm39)	V112E	probably damaging	Het
Eloa	T	C	4: 135,732,988 (GRCm39)	K754R	probably damaging	Het
Ern2	G	A	7: 121,777,062 (GRCm39)	T286I	probably damaging	Het
Fbxl6	T	A	15: 76,421,542 (GRCm39)	M232L	possibly damaging	Het
Gpr171	A	T	3: 59,005,400 (GRCm39)	I125K	probably damaging	Het
Hoxa2	G	A	6: 52,140,098 (GRCm39)	T296I	probably damaging	Het
Hspa8	A	G	9: 40,713,767 (GRCm39)	M87V	probably benign	Het
Ilkap	G	T	1: 91,318,882 (GRCm39)	D31E	possibly damaging	Het
Ints9	T	C	14: 65,269,770 (GRCm39)	S487P	probably benign	Het
Macc1	T	A	12: 119,414,091 (GRCm39)	S756T	probably benign	Het
Map2	A	G	1: 66,452,499 (GRCm39)	D545G	probably damaging	Het
Mapkbp1	A	G	2: 119,854,572 (GRCm39)	N1390D	probably benign	Het
Mgat5	G	A	1: 127,248,409 (GRCm39)	V104M	possibly damaging	Het
Myoz2	T	A	3: 122,827,916 (GRCm39)	M1L	possibly damaging	Het
Nmt1	A	G	11: 102,934,052 (GRCm39)	K64E	possibly damaging	Het
Nr6a1	C	A	2: 38,619,550 (GRCm39)	Q448H	probably damaging	Het
Nr6a1	T	G	2: 38,619,551 (GRCm39)	Q448P	probably damaging	Het
Odf2	T	C	2: 29,783,526 (GRCm39)		probably null	Het
Or8g37	T	A	9: 39,731,537 (GRCm39)	C201S	probably benign	Het
Osbpl6	A	G	2: 76,409,566 (GRCm39)	N476S	possibly damaging	Het
Pclo	A	G	5: 14,732,268 (GRCm39)		probably null	Het
Plxnd1	C	T	6: 115,934,558 (GRCm39)	D1792N	probably damaging	Het
Prdm11	C	T	2: 92,843,103 (GRCm39)	V119M	probably damaging	Het
Prss23	A	G	7: 89,159,416 (GRCm39)	F218L	probably benign	Het
Rflnb	A	G	11: 75,913,047 (GRCm39)	Y114H	probably damaging	Het
Skor2	T	A	18: 76,946,581 (GRCm39)	I101N	unknown	Het
Sp8	A	C	12: 118,812,910 (GRCm39)	Y255S	possibly damaging	Het
Srfbp1	G	A	18: 52,621,463 (GRCm39)	V175I	probably benign	Het
Stxbp5	C	T	10: 9,693,050 (GRCm39)	D359N	probably null	Het
Thnsl1	A	G	2: 21,217,733 (GRCm39)	I496V	possibly damaging	Het
Usp32	G	A	11: 84,908,653 (GRCm39)	P1018S	possibly damaging	Het
Usp7	A	T	16: 8,529,939 (GRCm39)	V142E	possibly damaging	Het

Other mutations in Fam135b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Fam135b	APN	15	71,322,343 (GRCm39)	missense	probably damaging	1.00
IGL00565:Fam135b	APN	15	71,343,361 (GRCm39)	missense	probably benign
IGL00645:Fam135b	APN	15	71,334,395 (GRCm39)	missense	probably damaging	1.00
IGL00686:Fam135b	APN	15	71,334,168 (GRCm39)	missense	probably benign	0.00
IGL00857:Fam135b	APN	15	71,335,465 (GRCm39)	missense	probably benign	0.16
IGL01443:Fam135b	APN	15	71,335,213 (GRCm39)	missense	probably benign	0.02
IGL01690:Fam135b	APN	15	71,328,784 (GRCm39)	missense	probably benign	0.19
IGL01920:Fam135b	APN	15	71,493,885 (GRCm39)	missense	possibly damaging	0.94
IGL01987:Fam135b	APN	15	71,333,964 (GRCm39)	missense	probably benign
IGL02154:Fam135b	APN	15	71,320,559 (GRCm39)	missense	probably benign	0.12
IGL03107:Fam135b	APN	15	71,335,410 (GRCm39)	missense	probably benign
IGL03264:Fam135b	APN	15	71,334,637 (GRCm39)	missense	probably benign
IGL03055:Fam135b	UTSW	15	71,493,883 (GRCm39)	missense	possibly damaging	0.51
R0010:Fam135b	UTSW	15	71,493,881 (GRCm39)	missense	probably damaging	1.00
R0010:Fam135b	UTSW	15	71,493,881 (GRCm39)	missense	probably damaging	1.00
R0230:Fam135b	UTSW	15	71,317,886 (GRCm39)	missense	probably benign	0.02
R0413:Fam135b	UTSW	15	71,335,670 (GRCm39)	missense	probably benign	0.45
R0524:Fam135b	UTSW	15	71,334,133 (GRCm39)	missense	probably benign	0.00
R0565:Fam135b	UTSW	15	71,362,686 (GRCm39)	missense	possibly damaging	0.88
R0628:Fam135b	UTSW	15	71,320,505 (GRCm39)	splice site	probably benign
R1415:Fam135b	UTSW	15	71,328,777 (GRCm39)	missense	probably damaging	0.99
R1462:Fam135b	UTSW	15	71,493,845 (GRCm39)	splice site	probably benign
R1701:Fam135b	UTSW	15	71,331,578 (GRCm39)	missense	probably damaging	1.00
R1797:Fam135b	UTSW	15	71,324,290 (GRCm39)	missense	probably benign	0.41
R1807:Fam135b	UTSW	15	71,335,761 (GRCm39)	missense	probably benign
R1835:Fam135b	UTSW	15	71,362,560 (GRCm39)	missense	probably damaging	1.00
R1905:Fam135b	UTSW	15	71,404,836 (GRCm39)	missense	probably damaging	1.00
R1937:Fam135b	UTSW	15	71,493,863 (GRCm39)	missense	probably damaging	1.00
R1998:Fam135b	UTSW	15	71,324,253 (GRCm39)	missense	probably damaging	0.98
R2076:Fam135b	UTSW	15	71,350,092 (GRCm39)	missense	probably damaging	0.99
R2518:Fam135b	UTSW	15	71,335,760 (GRCm39)	missense	probably benign	0.00
R3110:Fam135b	UTSW	15	71,335,879 (GRCm39)	missense	probably benign	0.05
R3112:Fam135b	UTSW	15	71,335,879 (GRCm39)	missense	probably benign	0.05
R3932:Fam135b	UTSW	15	71,322,280 (GRCm39)	missense	probably benign	0.29
R4361:Fam135b	UTSW	15	71,362,676 (GRCm39)	missense	probably damaging	1.00
R4397:Fam135b	UTSW	15	71,320,525 (GRCm39)	missense	probably benign	0.17
R4435:Fam135b	UTSW	15	71,320,588 (GRCm39)	missense	probably damaging	1.00
R4645:Fam135b	UTSW	15	71,334,189 (GRCm39)	missense	probably benign
R4740:Fam135b	UTSW	15	71,335,920 (GRCm39)	missense	probably benign	0.01
R4748:Fam135b	UTSW	15	71,335,904 (GRCm39)	missense	probably benign	0.00
R4754:Fam135b	UTSW	15	71,334,800 (GRCm39)	missense	probably benign	0.01
R5044:Fam135b	UTSW	15	71,334,560 (GRCm39)	missense	probably benign	0.02
R5469:Fam135b	UTSW	15	71,317,892 (GRCm39)	missense	probably benign	0.16
R5617:Fam135b	UTSW	15	71,493,865 (GRCm39)	missense	probably damaging	1.00
R5642:Fam135b	UTSW	15	71,333,985 (GRCm39)	missense	probably damaging	1.00
R5778:Fam135b	UTSW	15	71,350,881 (GRCm39)	missense	probably damaging	1.00
R5891:Fam135b	UTSW	15	71,397,652 (GRCm39)	missense	probably damaging	1.00
R5958:Fam135b	UTSW	15	71,334,744 (GRCm39)	missense
R5982:Fam135b	UTSW	15	71,320,518 (GRCm39)	critical splice donor site	probably null
R5987:Fam135b	UTSW	15	71,362,697 (GRCm39)	missense	probably benign	0.00
R6535:Fam135b	UTSW	15	71,493,924 (GRCm39)	missense	probably damaging	0.99
R6734:Fam135b	UTSW	15	71,334,629 (GRCm39)	missense	probably benign	0.02
R6887:Fam135b	UTSW	15	71,335,164 (GRCm39)	missense	probably damaging	1.00
R7028:Fam135b	UTSW	15	71,343,412 (GRCm39)	missense	probably damaging	1.00
R7035:Fam135b	UTSW	15	71,334,102 (GRCm39)	missense	possibly damaging	0.77
R7097:Fam135b	UTSW	15	71,493,917 (GRCm39)	missense	possibly damaging	0.92
R7143:Fam135b	UTSW	15	71,351,000 (GRCm39)	missense	probably benign	0.44
R7414:Fam135b	UTSW	15	71,350,105 (GRCm39)	missense	probably damaging	0.97
R7439:Fam135b	UTSW	15	71,335,529 (GRCm39)	missense	probably damaging	0.98
R7441:Fam135b	UTSW	15	71,335,529 (GRCm39)	missense	probably damaging	0.98
R7545:Fam135b	UTSW	15	71,322,359 (GRCm39)	missense	possibly damaging	0.95
R7615:Fam135b	UTSW	15	71,335,172 (GRCm39)	missense	probably damaging	1.00
R7642:Fam135b	UTSW	15	71,350,991 (GRCm39)	missense	possibly damaging	0.51
R7649:Fam135b	UTSW	15	71,334,429 (GRCm39)	missense	probably benign	0.00
R7686:Fam135b	UTSW	15	71,335,233 (GRCm39)	missense	possibly damaging	0.68
R7866:Fam135b	UTSW	15	71,333,925 (GRCm39)	missense	probably benign	0.00
R8006:Fam135b	UTSW	15	71,334,183 (GRCm39)	missense	probably benign	0.00
R8068:Fam135b	UTSW	15	71,404,827 (GRCm39)	missense	probably damaging	1.00
R8167:Fam135b	UTSW	15	71,404,840 (GRCm39)	missense	probably null	1.00
R8252:Fam135b	UTSW	15	71,404,872 (GRCm39)	missense	probably benign	0.10
R8833:Fam135b	UTSW	15	71,334,783 (GRCm39)	missense	probably benign	0.04
R8955:Fam135b	UTSW	15	71,334,063 (GRCm39)	missense	possibly damaging	0.85
R8961:Fam135b	UTSW	15	71,404,812 (GRCm39)	missense	probably damaging	1.00
R8987:Fam135b	UTSW	15	71,334,189 (GRCm39)	missense	probably benign	0.00
R9149:Fam135b	UTSW	15	71,334,744 (GRCm39)	missense
R9161:Fam135b	UTSW	15	71,334,417 (GRCm39)	missense	possibly damaging	0.91
R9227:Fam135b	UTSW	15	71,335,856 (GRCm39)	missense	probably benign	0.28
R9230:Fam135b	UTSW	15	71,335,856 (GRCm39)	missense	probably benign	0.28
R9365:Fam135b	UTSW	15	71,334,813 (GRCm39)	missense	probably benign	0.00
R9622:Fam135b	UTSW	15	71,397,686 (GRCm39)	missense	probably damaging	0.98
R9758:Fam135b	UTSW	15	71,324,199 (GRCm39)	missense	probably benign	0.28
R9759:Fam135b	UTSW	15	71,335,689 (GRCm39)	missense	probably benign	0.44
T0722:Fam135b	UTSW	15	71,335,734 (GRCm39)	missense	probably damaging	1.00
T0975:Fam135b	UTSW	15	71,335,734 (GRCm39)	missense	probably damaging	1.00
Z1177:Fam135b	UTSW	15	71,493,925 (GRCm39)	start codon destroyed	probably null	0.06

Predicted Primers

PCR Primer
(F):5'- TTCCCCTGCTGCTCTATGAAAAG -3'
(R):5'- TAACCAAGTCTGTGTCTGCACC -3'

Sequencing Primer
(F):5'- CTGCTGCTCTATGAAAAGACCTGG -3'
(R):5'- CCCTGAGGAGTCTGCTGAAG -3'

Posted On

2021-01-18