Mutagenetix > Incidental Mutation

Incidental Mutation 'R3110:Fam135b'

263846

Institutional Source

Beutler Lab

Gene Symbol

Fam135b

Ensembl Gene

ENSMUSG00000036800

Gene Name

family with sequence similarity 135, member B

Synonyms

1700010C24Rik, A830008O07Rik

MMRRC Submission

040584-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3110 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

71431609-71727838 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 71464030 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 438 (I438M)

Ref Sequence

ENSEMBL: ENSMUSP00000022953 (fasta)

Gene Model

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

AlphaFold

Q9DAI6

Predicted Effect

probably benign
Transcript: ENSMUST00000022953
AA Change: I438M

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000022953
Gene: ENSMUSG00000036800
AA Change: I438M

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

0.1461

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

98% (51/52)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430A15Rik	T	G	2: 111,228,054	L131F	probably damaging	Het
Abca6	T	A	11: 110,178,829	K1554*	probably null	Het
Acads	T	C	5: 115,117,698	H26R	probably benign	Het
Acer1	G	A	17: 56,958,406	T141I	probably damaging	Het
Adam15	C	G	3: 89,347,457	V99L	probably benign	Het
Ankrd13b	A	G	11: 77,477,505	V97A	possibly damaging	Het
Anpep	T	C	7: 79,841,972	T94A	probably benign	Het
Atp1a3	T	C	7: 24,994,694	N345S	probably damaging	Het
Btn1a1	T	A	13: 23,461,551	N216I	possibly damaging	Het
Cacna1s	G	A	1: 136,075,093	W62*	probably null	Het
Ccdc141	C	T	2: 77,039,486	V892I	probably benign	Het
Ccdc180	T	A	4: 45,900,470	I278K	possibly damaging	Het
Cdc7	T	G	5: 106,974,698		probably null	Het
Cpb1	C	T	3: 20,265,357	V188M	probably damaging	Het
Dock5	A	G	14: 67,857,922	I101T	possibly damaging	Het
Dqx1	T	C	6: 83,058,972	V95A	probably damaging	Het
Dvl1	T	A	4: 155,853,666	D90E	probably damaging	Het
Ebf1	T	A	11: 44,643,398		probably benign	Het
Fam57a	A	G	11: 76,202,231	D33G	probably benign	Het
Fpr1	A	T	17: 17,876,635	M364K	probably benign	Het
Gm14139	C	G	2: 150,192,221	P185R	probably damaging	Het
Gm7030	T	C	17: 36,129,146	Y32C	probably damaging	Het
Gm9932	A	T	5: 100,198,935		unknown	Het
Gpat4	G	A	8: 23,180,155	P286L	probably damaging	Het
Gpx7	C	A	4: 108,403,273	V109F	probably damaging	Het
Grhl2	T	C	15: 37,336,347		probably null	Het
Grn	A	G	11: 102,433,243	T53A	probably benign	Het
Hist1h1e	T	C	13: 23,621,846		probably benign	Het
Hmgxb3	T	C	18: 61,147,382	N683S	probably damaging	Het
Iigp1	T	C	18: 60,390,911	I367T	probably benign	Het
Itfg2	T	C	6: 128,411,669	E285G	probably damaging	Het
Itgav	T	A	2: 83,792,571	C662*	probably null	Het
Jarid2	T	A	13: 44,906,276	N661K	probably damaging	Het
Jmjd1c	T	A	10: 67,240,084		probably benign	Het
Lipe	T	C	7: 25,398,423	T32A	probably benign	Het
Lrrk2	A	G	15: 91,814,695	Y2475C	probably benign	Het
Mcc	T	C	18: 44,449,263	D607G	probably damaging	Het
Mip	T	A	10: 128,226,006	L42*	probably null	Het
Mlc1	A	T	15: 88,965,996	D192E	probably benign	Het
Muc2	T	C	7: 141,745,488		probably benign	Het
Mybl1	T	C	1: 9,681,870	D260G	probably damaging	Het
Ncln	C	T	10: 81,487,685	V51I	probably benign	Het
Nlrp9a	T	C	7: 26,557,872	V305A	probably benign	Het
Nodal	G	A	10: 61,424,497	R309Q	possibly damaging	Het
Olfr1338	A	T	4: 118,754,224	F105I	probably damaging	Het
Olfr294	T	C	7: 86,615,676	Y323C	probably benign	Het
Olfr536	A	G	7: 140,503,919	I180T	probably damaging	Het
Olr1	T	C	6: 129,499,918	N128S	possibly damaging	Het
Orc1	T	A	4: 108,604,560	C585S	probably benign	Het
Pcmtd2	A	T	2: 181,855,129	I300F	probably damaging	Het
Phactr3	T	A	2: 178,279,017	L180Q	possibly damaging	Het
Pigo	T	C	4: 43,021,083	T612A	probably benign	Het
Plch1	T	A	3: 63,709,531	D766V	probably damaging	Het
Plekhh3	T	C	11: 101,164,147		probably benign	Het
Ppp1r12b	T	A	1: 134,872,832	T547S	probably damaging	Het
Prkcb	T	A	7: 122,516,856	M186K	probably damaging	Het
Prpf3	A	T	3: 95,849,800		probably benign	Het
Psg23	T	C	7: 18,610,444	D362G	possibly damaging	Het
Reg3a	T	C	6: 78,381,131	L15P	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Het
Scrib	A	T	15: 76,069,374	I5N	probably damaging	Het
Speg	C	T	1: 75,422,682	Q2005*	probably null	Het
Sppl3	A	T	5: 115,074,864	S51C	possibly damaging	Het
Sspo	A	G	6: 48,457,600	T1009A	probably damaging	Het
Syce1l	A	G	8: 113,654,947	Q164R	probably benign	Het
Sympk	T	C	7: 19,034,484	V126A	possibly damaging	Het
Tas2r110	T	A	6: 132,868,024	I6K	unknown	Het
Tas2r120	A	T	6: 132,657,768	H271L	probably damaging	Het
Tnn	T	A	1: 160,116,286	T986S	possibly damaging	Het
Trim5	T	C	7: 104,279,638	H32R	probably damaging	Het
Ttc13	A	G	8: 124,683,834	I360T	possibly damaging	Het
Uaca	A	G	9: 60,871,499	E1054G	probably damaging	Het
Usp16	T	A	16: 87,471,848		probably null	Het
Wee1	T	A	7: 110,130,836	S382R	probably damaging	Het
Wnt11	T	C	7: 98,846,564	S92P	probably damaging	Het
Zfp786	A	G	6: 47,820,226	C593R	probably damaging	Het
Zfp879	T	G	11: 50,833,162	I283L	possibly damaging	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
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
R8955:Fam135b	UTSW	15	71462214	missense	possibly damaging	0.85
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'- GTTTTGAAATTCACCAATGGTCAGG -3'
(R):5'- GTCAAATCTGAAGGTCATTCCCC -3'

Sequencing Primer
(F):5'- GGTACACCTGAGATTCTGAGCAC -3'
(R):5'- AAGGTCATTCCCCTTCAAAAATAC -3'

Posted On

2015-02-05