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

71310800-71600282 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 71317892 bp (GRCm39)

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: 28,605,305 (GRCm39)	N331K	probably benign	Het
Anapc1	G	T	2: 128,517,621 (GRCm39)	S341*	probably null	Het
Cacna1e	T	C	1: 154,319,683 (GRCm39)	E1339G	probably damaging	Het
Cacna2d1	T	A	5: 16,557,676 (GRCm39)	I702N	probably damaging	Het
Casp2	C	A	6: 42,246,268 (GRCm39)	H209N	probably benign	Het
Casr	A	G	16: 36,330,392 (GRCm39)	V314A	probably benign	Het
Ccne2	A	T	4: 11,201,353 (GRCm39)	R294*	probably null	Het
Cd180	T	A	13: 102,841,342 (GRCm39)	H129Q	probably benign	Het
Chst10	A	T	1: 38,904,608 (GRCm39)	Y362N	probably damaging	Het
Ctnna1	T	A	18: 35,372,573 (GRCm39)	D509E	probably benign	Het
Ctsh	G	T	9: 89,942,564 (GRCm39)		probably null	Het
Dhx29	C	T	13: 113,081,073 (GRCm39)	A369V	possibly damaging	Het
Enox1	A	G	14: 77,830,414 (GRCm39)	T340A	probably benign	Het
Flt3	A	T	5: 147,291,893 (GRCm39)	S544T	possibly damaging	Het
Gm12689	T	C	4: 99,184,402 (GRCm39)	I85T	unknown	Het
Gsap	A	T	5: 21,495,542 (GRCm39)	Y831F	possibly damaging	Het
Hnrnpr	C	T	4: 136,046,745 (GRCm39)	T142M	probably damaging	Het
Jak3	A	G	8: 72,131,417 (GRCm39)	D94G	probably benign	Het
Ktn1	A	T	14: 47,928,377 (GRCm39)	E579D	probably damaging	Het
Lama2	G	A	10: 26,917,185 (GRCm39)	P2247S	possibly damaging	Het
Lrba	C	T	3: 86,449,948 (GRCm39)	S2089F	probably damaging	Het
Map1b	C	T	13: 99,565,846 (GRCm39)	V2292M	unknown	Het
Mphosph10	A	T	7: 64,039,193 (GRCm39)		probably null	Het
Pappa	C	T	4: 65,123,389 (GRCm39)	T908M	probably benign	Het
Pdcd10	T	A	3: 75,428,364 (GRCm39)	K150*	probably null	Het
Piezo2	A	T	18: 63,160,935 (GRCm39)	I2275N	probably damaging	Het
Pmvk	T	C	3: 89,374,989 (GRCm39)		probably null	Het
Pold2	G	A	11: 5,823,048 (GRCm39)	P376S	probably damaging	Het
Prtg	A	T	9: 72,799,247 (GRCm39)	Q759L	probably damaging	Het
Rad51ap1	C	T	6: 126,905,190 (GRCm39)	S107N	probably damaging	Het
Rfk	T	A	19: 17,372,566 (GRCm39)	N29K	probably damaging	Het
Ror2	T	C	13: 53,271,375 (GRCm39)	M315V	probably benign	Het
Rrn3	A	G	16: 13,630,964 (GRCm39)	E600G	probably benign	Het
Ryk	A	G	9: 102,784,153 (GRCm39)	Y593C	possibly damaging	Het
Slc30a3	T	A	5: 31,246,004 (GRCm39)	D193V	probably damaging	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Srbd1	C	A	17: 86,427,370 (GRCm39)	C421F	possibly damaging	Het
Sstr5	A	C	17: 25,711,043 (GRCm39)	V62G	probably damaging	Het
Tfip11	G	A	5: 112,482,191 (GRCm39)	W483*	probably null	Het
Tlk1	T	C	2: 70,552,012 (GRCm39)	H553R	probably benign	Het
Tnc	T	C	4: 63,932,162 (GRCm39)		probably null	Het
Trav12-1	A	G	14: 53,775,930 (GRCm39)	T27A	probably damaging	Het
Usp9y	G	A	Y: 1,364,714 (GRCm39)	T1033I	probably benign	Het
V1ra8	C	T	6: 90,180,186 (GRCm39)	H130Y	probably benign	Het
Vmn2r77	A	T	7: 86,451,271 (GRCm39)	M386L	probably benign	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
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
R8548:Fam135b	UTSW	15	71,334,659 (GRCm39)	missense	probably damaging	0.99
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'- TGATCTTGAGCAGCTCTGGAC -3'
(R):5'- GCATGCTAATCTTACCAACTGTAG -3'

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

Posted On

2016-10-06