Mutagenetix > Incidental Mutation

Incidental Mutation 'R3932:Fam135b'

308524

Institutional Source

Beutler Lab

Gene Symbol

Fam135b

Ensembl Gene

ENSMUSG00000036800

Gene Name

family with sequence similarity 135, member B

Synonyms

1700010C24Rik, A830008O07Rik

MMRRC Submission

040919-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3932 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

71310800-71600282 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 71322280 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 1295 (Q1295L)

Ref Sequence

ENSEMBL: ENSMUSP00000022953 (fasta)

Gene Model

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

AlphaFold

Q9DAI6

Predicted Effect

probably benign
Transcript: ENSMUST00000022953
AA Change: Q1295L

PolyPhen 2 Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000022953
Gene: ENSMUSG00000036800
AA Change: Q1295L

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

Meta Mutation Damage Score

0.1578

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.1%
20x: 94.1%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap3b2	C	T	7: 81,123,598 (GRCm39)		probably benign	Het
Arl1	C	T	10: 88,569,398 (GRCm39)		probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atp10a	T	C	7: 58,476,852 (GRCm39)	M1189T	possibly damaging	Het
Bcl2l14	A	G	6: 134,400,771 (GRCm39)	D64G	probably damaging	Het
Cdc34b	G	A	11: 94,633,441 (GRCm39)	V214M	probably benign	Het
Cfap54	T	C	10: 92,665,619 (GRCm39)	T2985A	probably benign	Het
Clcc1	T	C	3: 108,580,682 (GRCm39)	M332T	probably damaging	Het
Coch	T	C	12: 51,650,121 (GRCm39)	I370T	probably damaging	Het
Ctdnep1	A	G	11: 69,880,400 (GRCm39)		probably benign	Het
Edar	C	T	10: 58,446,164 (GRCm39)	C221Y	probably damaging	Het
Fam184a	C	T	10: 53,575,397 (GRCm39)	A71T	probably damaging	Het
Fbxw10	A	G	11: 62,759,983 (GRCm39)		probably benign	Het
Frmd4a	T	C	2: 4,542,071 (GRCm39)	W247R	probably damaging	Het
Gcn1	A	G	5: 115,725,893 (GRCm39)	H553R	probably benign	Het
Grin3a	C	T	4: 49,672,472 (GRCm39)		probably null	Het
H2-Q6	C	T	17: 35,644,542 (GRCm39)		probably benign	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Hspg2	T	C	4: 137,242,879 (GRCm39)	V670A	probably damaging	Het
Med10	A	G	13: 69,958,101 (GRCm39)	N18D	probably damaging	Het
Mgat4b	T	A	11: 50,124,165 (GRCm39)	H368Q	possibly damaging	Het
Morn5	C	A	2: 35,943,035 (GRCm39)	T45N	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Msl3	C	T	X: 167,454,813 (GRCm39)	A87T	probably damaging	Het
Myrf	T	C	19: 10,195,515 (GRCm39)	T432A	probably damaging	Het
Nalf2	G	A	X: 98,865,470 (GRCm39)	V266M	possibly damaging	Het
Nav3	T	A	10: 109,529,896 (GRCm39)	E2148D	probably damaging	Het
Nfe2l3	A	G	6: 51,433,595 (GRCm39)	T236A	possibly damaging	Het
Odc1	T	A	12: 17,598,801 (GRCm39)	F227Y	probably benign	Het
Opa1	A	T	16: 29,429,698 (GRCm39)	E401D	probably damaging	Het
Or5b21	T	C	19: 12,839,994 (GRCm39)	M285T	possibly damaging	Het
Pdcd1	T	C	1: 93,968,989 (GRCm39)	I110V	probably benign	Het
Pde5a	G	A	3: 122,554,545 (GRCm39)	E212K	probably damaging	Het
Plin4	A	G	17: 56,413,704 (GRCm39)	I307T	probably benign	Het
Rag1	T	C	2: 101,473,384 (GRCm39)	Y586C	probably damaging	Het
Rgs7bp	T	C	13: 105,189,506 (GRCm39)	M98V	probably benign	Het
Rgs9	A	G	11: 109,166,639 (GRCm39)		probably benign	Het
Rin3	A	G	12: 102,356,342 (GRCm39)	D961G	probably damaging	Het
Rubcn	A	G	16: 32,649,629 (GRCm39)		probably null	Het
Slc13a2	T	A	11: 78,289,226 (GRCm39)	Y495F	probably damaging	Het
Tfec	T	A	6: 16,845,458 (GRCm39)	D67V	probably damaging	Het
Tmem94	T	C	11: 115,680,080 (GRCm39)	M30T	probably benign	Het
Tsbp1	A	G	17: 34,662,417 (GRCm39)	T86A	possibly damaging	Het
Tubgcp6	A	G	15: 88,988,617 (GRCm39)		probably benign	Het
Vmn2r10	C	A	5: 109,150,088 (GRCm39)	A319S	possibly damaging	Het
Vmn2r85	T	C	10: 130,254,336 (GRCm39)	M783V	probably damaging	Het
Zfp422	T	C	6: 116,603,420 (GRCm39)	K193R	probably benign	Het
Zfp94	T	G	7: 24,003,112 (GRCm39)	D110A	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
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
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'- TGTGTCACACAGAGTATGTTTGAG -3'
(R):5'- GTCTCTGTGCACACTCACAC -3'

Sequencing Primer
(F):5'- TCACACAGAGTATGTTTGAGGCATG -3'
(R):5'- TCTCTGTGCACACTCACACCTAATAC -3'

Posted On

2015-04-17