Mutagenetix > Incidental Mutation

Incidental Mutation 'R8955:Fam135b'

681967

Institutional Source

Beutler Lab

Gene Symbol

Fam135b

Ensembl Gene

ENSMUSG00000036800

Gene Name

family with sequence similarity 135, member B

Synonyms

1700010C24Rik, A830008O07Rik

MMRRC Submission

068791-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8955 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

71431609-71727838 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 71462214 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 1044 (V1044I)

Ref Sequence

ENSEMBL: ENSMUSP00000022953 (fasta)

Gene Model

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

AlphaFold

Q9DAI6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022953
AA Change: V1044I

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000022953
Gene: ENSMUSG00000036800
AA Change: V1044I

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: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	C	T	15: 64,704,705	V1003I	possibly damaging	Het
Adgra3	T	A	5: 49,961,389	Y939F	probably benign	Het
Adra2b	T	C	2: 127,363,584	V2A	probably benign	Het
Aga	T	A	8: 53,521,129	Y296N	possibly damaging	Het
Apc	A	G	18: 34,268,317	Q52R	probably damaging	Het
Arfgef1	A	T	1: 10,199,837	S362R	probably benign	Het
Arhgef7	C	T	8: 11,758,451		probably benign	Het
Bmp5	A	T	9: 75,898,553	M446L	probably damaging	Het
Carmil3	C	T	14: 55,496,077	T350I	probably damaging	Het
Cd44	T	A	2: 102,853,018	T224S	probably damaging	Het
Cep112	A	T	11: 108,752,434	I7F	possibly damaging	Het
Chrna2	G	A	14: 66,142,232	A7T	probably benign	Het
Cldn16	G	A	16: 26,482,520	V193I	probably benign	Het
Clec4a3	G	A	6: 122,966,520	E100K	possibly damaging	Het
Cntln	C	T	4: 85,067,873	T1026I	possibly damaging	Het
Cyp4v3	T	A	8: 45,308,527	I420F	probably benign	Het
Dcbld2	G	A	16: 58,450,762	A301T		Het
Dnah1	A	T	14: 31,285,993	D2152E	probably benign	Het
Dpy19l4	A	G	4: 11,290,195	V179A	probably benign	Het
Dusp4	T	A	8: 34,817,308	I259N	probably damaging	Het
Enpp1	T	A	10: 24,669,028	I318F	probably benign	Het
Entpd6	T	C	2: 150,753,085	V15A	possibly damaging	Het
Epb41l1	C	G	2: 156,522,003	Q811E	probably benign	Het
Epb41l5	T	C	1: 119,642,562	H32R	probably damaging	Het
Fat4	A	T	3: 38,983,629	H3810L	probably benign	Het
Fbxw28	T	A	9: 109,338,789		probably null	Het
Flnb	T	G	14: 7,892,874	V648G	probably damaging	Het
Flnb	T	A	14: 7,904,688	Y1030*	probably null	Het
Fndc3a	T	C	14: 72,556,970	T787A	probably benign	Het
Gli2	T	A	1: 118,855,457	H106L	probably damaging	Het
Gm10283	T	A	8: 60,501,356		probably null	Het
Gm3336	C	T	8: 70,721,896	R67*	probably null	Het
Gsr	T	G	8: 33,693,908	I399M	possibly damaging	Het
Gtf2ird2	T	A	5: 134,216,754	M618K	probably damaging	Het
Gtf3c3	T	A	1: 54,423,563	D347V	probably benign	Het
H2afy2	A	T	10: 61,757,831	I22N	probably damaging	Het
Hspa12a	T	C	19: 58,799,626	Y588C	probably damaging	Het
Il20ra	A	G	10: 19,759,412	E467G	possibly damaging	Het
Inf2	A	G	12: 112,610,564	I991V	unknown	Het
Irx6	T	C	8: 92,678,412	C303R	probably damaging	Het
Kcnmb4	T	A	10: 116,473,476	K16*	probably null	Het
Kirrel3	T	C	9: 34,944,442	L86P	probably damaging	Het
Lipo5	A	C	19: 33,473,130	F21V		Het
Lrmp	A	T	6: 145,171,664	M376L	probably benign	Het
Lrrc31	T	A	3: 30,679,118	R482S	probably benign	Het
Lrrc3b	C	T	14: 15,358,159	C149Y	probably damaging	Het
Lrrk1	A	G	7: 66,269,825	M446T	probably benign	Het
Mettl14	C	T	3: 123,374,044	D222N	probably benign	Het
Mfsd4b3	G	A	10: 39,948,076	H63Y	probably benign	Het
Myo16	T	C	8: 10,376,175	W311R	probably damaging	Het
Nccrp1	A	T	7: 28,546,203	N151K	probably benign	Het
Obsl1	T	C	1: 75,503,849	D377G	probably damaging	Het
Olfr1356	G	T	10: 78,847,742	P58T	probably damaging	Het
Olfr1447	T	A	19: 12,901,214	T189S	probably benign	Het
Olfr371	T	A	8: 85,231,284	I263N	probably benign	Het
Olfr508	T	A	7: 108,630,299	C102*	probably null	Het
Pigb	T	C	9: 73,038,701	N63S	probably damaging	Het
Plch2	T	C	4: 154,992,566	E577G	probably benign	Het
Prkab2	T	C	3: 97,666,627	V194A	probably benign	Het
Psd3	T	C	8: 67,963,809	I479V	probably benign	Het
Ralgapb	C	A	2: 158,437,344	P117T	probably benign	Het
Ralgapb	C	G	2: 158,495,469	T1116R	probably damaging	Het
Rpap2	T	A	5: 107,620,495	S400T	possibly damaging	Het
Rpgrip1l	C	A	8: 91,280,828	W378L	possibly damaging	Het
Rps20	T	A	4: 3,834,617	M82L	probably benign	Het
Rps5	T	C	7: 12,925,513	M77T	possibly damaging	Het
Scaf11	A	G	15: 96,420,490	S398P	probably damaging	Het
Sdf2	T	A	11: 78,254,937	D153E	probably benign	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,819,695		probably benign	Het
Slc12a9	T	C	5: 137,331,008	N128S	probably damaging	Het
Slc25a32	C	A	15: 39,097,551	G246C	probably damaging	Het
Slc38a4	C	T	15: 97,016,781	A64T	probably benign	Het
Slit3	T	C	11: 35,698,380	V1254A	probably damaging	Het
Slx4	T	C	16: 3,990,247	K481R	probably benign	Het
Tcea1	A	G	1: 4,889,509	T136A	probably benign	Het
Thra	A	G	11: 98,753,623	D13G	possibly damaging	Het
Tmed9	G	A	13: 55,596,962	S227N	probably benign	Het
Trim80	C	A	11: 115,440,712	T20K	probably benign	Het
Trmt61a	G	T	12: 111,682,822	V276L	probably benign	Het
Trpc4ap	T	C	2: 155,666,251	D160G	possibly damaging	Het
Ubr5	C	T	15: 38,029,581	E467K		Het
Vars2	C	A	17: 35,661,649	G26W	probably damaging	Het
Vmn1r226	G	T	17: 20,688,025	R173L	possibly damaging	Het
Vmn1r29	G	T	6: 58,307,299	M1I	probably null	Het
Vmn2r3	G	T	3: 64,261,382	P578Q	possibly damaging	Het
Vmn2r57	A	T	7: 41,400,147	I726N	possibly damaging	Het
Zfp39	A	T	11: 58,890,120	Y605*	probably null	Het

Other mutations in Fam135b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Fam135b	APN	15	71450494	missense	probably damaging	1.00
IGL00565:Fam135b	APN	15	71471512	missense	probably benign
IGL00645:Fam135b	APN	15	71462546	missense	probably damaging	1.00
IGL00686:Fam135b	APN	15	71462319	missense	probably benign	0.00
IGL00857:Fam135b	APN	15	71463616	missense	probably benign	0.16
IGL01443:Fam135b	APN	15	71463364	missense	probably benign	0.02
IGL01690:Fam135b	APN	15	71456935	missense	probably benign	0.19
IGL01920:Fam135b	APN	15	71622036	missense	possibly damaging	0.94
IGL01987:Fam135b	APN	15	71462115	missense	probably benign
IGL02154:Fam135b	APN	15	71448710	missense	probably benign	0.12
IGL03107:Fam135b	APN	15	71463561	missense	probably benign
IGL03264:Fam135b	APN	15	71462788	missense	probably benign
IGL03055:Fam135b	UTSW	15	71622034	missense	possibly damaging	0.51
R0010:Fam135b	UTSW	15	71622032	missense	probably damaging	1.00
R0010:Fam135b	UTSW	15	71622032	missense	probably damaging	1.00
R0230:Fam135b	UTSW	15	71446037	missense	probably benign	0.02
R0413:Fam135b	UTSW	15	71463821	missense	probably benign	0.45
R0524:Fam135b	UTSW	15	71462284	missense	probably benign	0.00
R0565:Fam135b	UTSW	15	71490837	missense	possibly damaging	0.88
R0628:Fam135b	UTSW	15	71448656	splice site	probably benign
R1415:Fam135b	UTSW	15	71456928	missense	probably damaging	0.99
R1462:Fam135b	UTSW	15	71621996	splice site	probably benign
R1701:Fam135b	UTSW	15	71459729	missense	probably damaging	1.00
R1797:Fam135b	UTSW	15	71452441	missense	probably benign	0.41
R1807:Fam135b	UTSW	15	71463912	missense	probably benign
R1835:Fam135b	UTSW	15	71490711	missense	probably damaging	1.00
R1905:Fam135b	UTSW	15	71532987	missense	probably damaging	1.00
R1937:Fam135b	UTSW	15	71622014	missense	probably damaging	1.00
R1998:Fam135b	UTSW	15	71452404	missense	probably damaging	0.98
R2076:Fam135b	UTSW	15	71478243	missense	probably damaging	0.99
R2518:Fam135b	UTSW	15	71463911	missense	probably benign	0.00
R3110:Fam135b	UTSW	15	71464030	missense	probably benign	0.05
R3112:Fam135b	UTSW	15	71464030	missense	probably benign	0.05
R3932:Fam135b	UTSW	15	71450431	missense	probably benign	0.29
R4361:Fam135b	UTSW	15	71490827	missense	probably damaging	1.00
R4397:Fam135b	UTSW	15	71448676	missense	probably benign	0.17
R4435:Fam135b	UTSW	15	71448739	missense	probably damaging	1.00
R4645:Fam135b	UTSW	15	71462340	missense	probably benign
R4740:Fam135b	UTSW	15	71464071	missense	probably benign	0.01
R4748:Fam135b	UTSW	15	71464055	missense	probably benign	0.00
R4754:Fam135b	UTSW	15	71462951	missense	probably benign	0.01
R5044:Fam135b	UTSW	15	71462711	missense	probably benign	0.02
R5469:Fam135b	UTSW	15	71446043	missense	probably benign	0.16
R5617:Fam135b	UTSW	15	71622016	missense	probably damaging	1.00
R5642:Fam135b	UTSW	15	71462136	missense	probably damaging	1.00
R5778:Fam135b	UTSW	15	71479032	missense	probably damaging	1.00
R5891:Fam135b	UTSW	15	71525803	missense	probably damaging	1.00
R5958:Fam135b	UTSW	15	71462895	missense
R5982:Fam135b	UTSW	15	71448669	critical splice donor site	probably null
R5987:Fam135b	UTSW	15	71490848	missense	probably benign	0.00
R6535:Fam135b	UTSW	15	71622075	missense	probably damaging	0.99
R6734:Fam135b	UTSW	15	71462780	missense	probably benign	0.02
R6887:Fam135b	UTSW	15	71463315	missense	probably damaging	1.00
R7028:Fam135b	UTSW	15	71471563	missense	probably damaging	1.00
R7035:Fam135b	UTSW	15	71462253	missense	possibly damaging	0.77
R7097:Fam135b	UTSW	15	71622068	missense	possibly damaging	0.92
R7143:Fam135b	UTSW	15	71479151	missense	probably benign	0.44
R7414:Fam135b	UTSW	15	71478256	missense	probably damaging	0.97
R7439:Fam135b	UTSW	15	71463680	missense	probably damaging	0.98
R7441:Fam135b	UTSW	15	71463680	missense	probably damaging	0.98
R7545:Fam135b	UTSW	15	71450510	missense	possibly damaging	0.95
R7615:Fam135b	UTSW	15	71463323	missense	probably damaging	1.00
R7642:Fam135b	UTSW	15	71479142	missense	possibly damaging	0.51
R7649:Fam135b	UTSW	15	71462580	missense	probably benign	0.00
R7686:Fam135b	UTSW	15	71463384	missense	possibly damaging	0.68
R7866:Fam135b	UTSW	15	71462076	missense	probably benign	0.00
R8006:Fam135b	UTSW	15	71462334	missense	probably benign	0.00
R8068:Fam135b	UTSW	15	71532978	missense	probably damaging	1.00
R8167:Fam135b	UTSW	15	71532991	missense	probably null	1.00
R8252:Fam135b	UTSW	15	71533023	missense	probably benign	0.10
R8548:Fam135b	UTSW	15	71462810	missense	probably damaging	0.99
R8833:Fam135b	UTSW	15	71462934	missense	probably benign	0.04
R8961:Fam135b	UTSW	15	71532963	missense	probably damaging	1.00
R8987:Fam135b	UTSW	15	71462340	missense	probably benign	0.00
R9149:Fam135b	UTSW	15	71462895	missense
R9161:Fam135b	UTSW	15	71462568	missense	possibly damaging	0.91
R9227:Fam135b	UTSW	15	71464007	missense	probably benign	0.28
R9230:Fam135b	UTSW	15	71464007	missense	probably benign	0.28
R9365:Fam135b	UTSW	15	71462964	missense	probably benign	0.00
R9622:Fam135b	UTSW	15	71525837	missense	probably damaging	0.98
R9758:Fam135b	UTSW	15	71452350	missense	probably benign	0.28
R9759:Fam135b	UTSW	15	71463840	missense	probably benign	0.44
T0722:Fam135b	UTSW	15	71463885	missense	probably damaging	1.00
T0975:Fam135b	UTSW	15	71463885	missense	probably damaging	1.00
Z1177:Fam135b	UTSW	15	71622076	start codon destroyed	probably null	0.06

Predicted Primers

PCR Primer
(F):5'- ACCTCCATGTTAAATACTAGGCATG -3'
(R):5'- ACACTATTGCCTCCCAAGTG -3'

Sequencing Primer
(F):5'- TGTTAAATACTAGGCATGAAGCTGAG -3'
(R):5'- ATTGCCTCCCAAGTGTCACG -3'

Posted On

2021-08-31