Mutagenetix > Incidental Mutation

Incidental Mutation 'R8068:Fam135b'

620128

Institutional Source

Beutler Lab

Gene Symbol

Fam135b

Ensembl Gene

ENSMUSG00000036800

Gene Name

family with sequence similarity 135, member B

Synonyms

1700010C24Rik, A830008O07Rik

MMRRC Submission

067503-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8068 (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 71404827 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 73 (Q73R)

Ref Sequence

ENSEMBL: ENSMUSP00000022953 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022953] [ENSMUST00000229189]

AlphaFold

Q9DAI6

Predicted Effect

probably damaging
Transcript: ENSMUST00000022953
AA Change: Q73R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000022953
Gene: ENSMUSG00000036800
AA Change: Q73R

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

probably damaging
Transcript: ENSMUST00000229189
AA Change: Q73R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam39	T	A	8: 41,278,975 (GRCm39)	D455E	not run	Het
Aldoc	T	C	11: 78,215,553 (GRCm39)	F79S	possibly damaging	Het
Atmin	A	G	8: 117,683,389 (GRCm39)	S350G	probably benign	Het
Bms1	A	G	6: 118,390,711 (GRCm39)	F206S	probably damaging	Het
Carmil1	T	A	13: 24,259,711 (GRCm39)	I698L	probably benign	Het
Cd47	T	A	16: 49,715,779 (GRCm39)	S182T		Het
Ces2e	G	T	8: 105,659,629 (GRCm39)		probably null	Het
Cfap251	A	G	5: 123,394,229 (GRCm39)	S373G	not run	Het
Cit	C	A	5: 116,090,525 (GRCm39)	H906Q	probably damaging	Het
Cit	T	C	5: 116,120,294 (GRCm39)	S1370P	probably benign	Het
Dchs2	T	C	3: 83,207,745 (GRCm39)	F1739L	probably benign	Het
Dlx4	T	C	11: 95,036,156 (GRCm39)	Y51C	possibly damaging	Het
Drosha	T	A	15: 12,883,276 (GRCm39)	Y796*	probably null	Het
Elf1	T	A	14: 79,773,830 (GRCm39)	F14I	probably benign	Het
Gatad1	T	C	5: 3,693,540 (GRCm39)	R210G	probably benign	Het
Gls2	C	G	10: 128,030,983 (GRCm39)	R81G	unknown	Het
Hnrnpll	T	C	17: 80,358,281 (GRCm39)	M157V	possibly damaging	Het
Itgb3	T	A	11: 104,556,337 (GRCm39)	M726K	probably benign	Het
Kcna10	T	G	3: 107,101,726 (GRCm39)	M119R	possibly damaging	Het
Kcnh1	A	G	1: 191,924,250 (GRCm39)	T155A	probably benign	Het
Kctd9	T	A	14: 67,962,111 (GRCm39)	D51E	unknown	Het
Lgr6	T	C	1: 134,991,402 (GRCm39)	I129V	probably benign	Het
Lrrfip1	A	T	1: 91,055,824 (GRCm39)	D598V	probably damaging	Het
Ltbp4	G	T	7: 27,023,593 (GRCm39)	Q850K	probably damaging	Het
Mdm1	A	G	10: 117,982,709 (GRCm39)	R115G	possibly damaging	Het
Mns1	A	C	9: 72,355,809 (GRCm39)		probably null	Het
Mthfs	G	A	9: 89,093,288 (GRCm39)	R14Q	probably damaging	Het
Muc2	T	A	7: 141,298,422 (GRCm39)	S25T		Het
Ncapd3	T	C	9: 26,974,657 (GRCm39)	S710P	possibly damaging	Het
Nrip1	T	A	16: 76,089,841 (GRCm39)	H572L	possibly damaging	Het
Nrp2	C	T	1: 62,784,567 (GRCm39)	R239C	probably damaging	Het
Opa3	A	G	7: 18,978,910 (GRCm39)	E125G	probably damaging	Het
Or52p1	T	A	7: 104,267,460 (GRCm39)	C191*	probably null	Het
Or5ap2	A	G	2: 85,680,150 (GRCm39)	E118G	probably damaging	Het
Or5w19	A	G	2: 87,698,995 (GRCm39)	Y220C	probably benign	Het
P3h1	A	G	4: 119,094,059 (GRCm39)	Y238C	probably damaging	Het
Pappa2	T	C	1: 158,763,555 (GRCm39)	D652G	possibly damaging	Het
Pcdha11	T	A	18: 37,138,618 (GRCm39)	N82K	probably damaging	Het
Pde4b	T	C	4: 102,453,212 (GRCm39)	I293T	probably damaging	Het
Prrc2c	TTGCTGCTGCTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGCTGCTGCTGC	1: 162,536,630 (GRCm39)		probably benign	Het
Qki	T	C	17: 10,537,732 (GRCm39)	D24G	possibly damaging	Het
Rbpjl	A	G	2: 164,250,438 (GRCm39)	K197E	possibly damaging	Het
Rnf111	A	T	9: 70,365,223 (GRCm39)	S415T	probably benign	Het
Scyl1	A	G	19: 5,810,853 (GRCm39)	V488A	probably damaging	Het
Slc1a6	G	C	10: 78,648,706 (GRCm39)	V476L	possibly damaging	Het
Slc22a17	A	T	14: 55,146,365 (GRCm39)	F84I	probably benign	Het
Slc22a4	A	C	11: 53,888,269 (GRCm39)	I253S	possibly damaging	Het
Speer2	T	C	16: 69,657,412 (GRCm39)	H77R	possibly damaging	Het
Speg	T	C	1: 75,398,894 (GRCm39)	S2114P	probably damaging	Het
Synpo2	T	A	3: 122,911,041 (GRCm39)	R201S	possibly damaging	Het
Ttpa	C	A	4: 20,028,419 (GRCm39)	H225Q	probably damaging	Het
Vmn1r45	A	T	6: 89,910,261 (GRCm39)	H236Q	possibly damaging	Het
Vmn2r7	A	T	3: 64,623,507 (GRCm39)	V271D	probably benign	Het
Zfp53	A	T	17: 21,729,274 (GRCm39)	T436S	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
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
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'- GCTTCTTTGAATGAGTAGCCATG -3'
(R):5'- ATGCGGTCTCATTCATTTGCG -3'

Sequencing Primer
(F):5'- AGAATCAACCTGTAGCTTCTCC -3'
(R):5'- GCGATCTGAAGCTTTAGAATTGCAG -3'

Posted On

2020-01-23