Mutagenetix > Incidental Mutations

Incidental Mutation 'R4708:Fam35a'

355442

Institutional Source

Beutler Lab

Gene Symbol

Fam35a

Ensembl Gene

ENSMUSG00000041471

Gene Name

family with sequence similarity 35, member A

Synonyms

3110001K24Rik

MMRRC Submission

042017-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R4708 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34237033-34310493 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34267833 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 372 (V372A)

Ref Sequence

ENSEMBL: ENSMUSP00000154080 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111917] [ENSMUST00000227006] [ENSMUST00000227375] [ENSMUST00000228337] [ENSMUST00000228626] [ENSMUST00000228704]

Predicted Effect

probably benign
Transcript: ENSMUST00000111917
AA Change: V372A

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000107548
Gene: ENSMUSG00000041471
AA Change: V372A

Domain	Start	End	E-Value	Type
low complexity region	66	75	N/A	INTRINSIC
low complexity region	163	177	N/A	INTRINSIC
Pfam:FAM35_C	694	866	4.6e-84	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000227006

Predicted Effect

probably benign
Transcript: ENSMUST00000227375

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228310

Predicted Effect

probably benign
Transcript: ENSMUST00000228337

Predicted Effect

probably benign
Transcript: ENSMUST00000228626
AA Change: V372A

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000228704

Meta Mutation Damage Score

0.0888

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.8%

Validation Efficiency

97% (68/70)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	G	A	7: 41,611,885	G2D	probably damaging	Het
4930430F08Rik	T	C	10: 100,578,381	I139V	probably benign	Het
4930505A04Rik	T	C	11: 30,454,717	Y62C	probably damaging	Het
4931408C20Rik	A	T	1: 26,684,440	V553D	possibly damaging	Het
Aadacl4	A	C	4: 144,623,329	K385N	probably benign	Het
Abcb4	A	T	5: 8,915,125	T332S	possibly damaging	Het
Aco2	G	A	15: 81,909,916		probably null	Het
Aplf	G	T	6: 87,663,757	S69Y	probably damaging	Het
Arhgap27	A	G	11: 103,333,562		probably benign	Het
B4galnt1	T	A	10: 127,169,815	Y262N	probably damaging	Het
Bag4	C	T	8: 25,769,488	A228T	probably benign	Het
BC017158	A	G	7: 128,274,680	V345A	probably benign	Het
Ccdc62	T	G	5: 123,930,862		probably null	Het
Cd109	T	A	9: 78,672,589	I649K	probably benign	Het
Cd209b	T	C	8: 3,924,215	E99G	probably damaging	Het
Cep290	A	G	10: 100,523,264	K952R	probably benign	Het
Ces2a	A	G	8: 104,737,306	H190R	probably benign	Het
Clec14a	A	G	12: 58,267,703	S378P	probably benign	Het
Col27a1	A	G	4: 63,283,913	Q947R	probably benign	Het
Dennd3	A	G	15: 73,523,495	T146A	probably damaging	Het
Dpy19l4	T	A	4: 11,277,970	M486L	probably benign	Het
Dysf	C	A	6: 84,097,715	D499E	probably damaging	Het
Eif4enif1	T	G	11: 3,220,323	H125Q	probably damaging	Het
Fcgbp	A	T	7: 28,094,961	M1197L	probably benign	Het
Fubp3	C	T	2: 31,608,110	T92I	probably benign	Het
Gm19426	T	C	2: 84,743,459		probably null	Het
Gtf2ird2	A	G	5: 134,216,298	H466R	probably damaging	Het
Hdac5	T	C	11: 102,202,193	S573G	probably damaging	Het
Iars2	A	T	1: 185,289,357	M916K	probably benign	Het
Insr	A	T	8: 3,211,346		probably benign	Het
Itgam	T	C	7: 128,101,537	V493A	probably damaging	Het
Ivl	T	A	3: 92,571,750	K336I	probably damaging	Het
Kcng2	A	G	18: 80,322,852	I95T	probably damaging	Het
Lap3	A	G	5: 45,511,138	R431G	probably damaging	Het
Lrrc66	T	C	5: 73,629,662	H115R	probably benign	Het
Morc3	T	C	16: 93,873,238	V767A	probably benign	Het
Mttp	A	G	3: 138,134,098		probably benign	Het
Myo1c	C	T	11: 75,670,030	R770*	probably null	Het
Nat9	G	A	11: 115,183,443	T133M	probably damaging	Het
Nectin4	T	C	1: 171,385,146	I349T	probably benign	Het
Nlrp4a	A	G	7: 26,464,108	E900G	probably benign	Het
Nlrp9c	A	T	7: 26,384,840	M438K	probably benign	Het
Olfr1384	T	A	11: 49,514,389	Y250*	probably null	Het
Olfr1444	A	T	19: 12,861,897	I41F	probably benign	Het
Olfr551	A	T	7: 102,587,836	D302E	probably benign	Het
Parp6	T	C	9: 59,641,769	I507T	probably damaging	Het
Pde6c	G	A	19: 38,180,893	E804K	possibly damaging	Het
Plscr2	A	G	9: 92,291,014	Y203C	probably damaging	Het
Ptprs	A	G	17: 56,428,067	W216R	probably damaging	Het
Rhof	T	A	5: 123,120,391	T126S	probably benign	Het
Riox2	A	G	16: 59,475,682	I49V	probably benign	Het
Tmc6	A	T	11: 117,768,948	C750S	probably benign	Het
Tmem231	C	A	8: 111,933,786		probably benign	Het
Tmem94	T	A	11: 115,786,295	I131N	possibly damaging	Het
Tmx3	T	C	18: 90,521,039		probably null	Het
Tnfrsf21	C	T	17: 43,038,232	T245I	possibly damaging	Het
Ttbk2	C	A	2: 120,739,861	R1201S	probably damaging	Het
Vmn2r102	A	T	17: 19,694,314	M714L	probably benign	Het
Vmn2r109	A	G	17: 20,541,343	L584S	probably damaging	Het
Vmn2r53	T	A	7: 12,601,202	H177L	probably benign	Het
Vnn1	T	A	10: 23,897,352	D92E	probably benign	Het
Zan	T	C	5: 137,446,712	I1762V	unknown	Het
Zbtb20	G	T	16: 43,610,676	A517S	probably damaging	Het
Zfhx4	A	G	3: 5,245,503		probably null	Het
Zfp560	T	C	9: 20,351,918	E54G	possibly damaging	Het
Zfp719	C	T	7: 43,590,232	H415Y	probably damaging	Het
Zmynd11	A	C	13: 9,695,753	V188G	probably damaging	Het

Other mutations in Fam35a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00157:Fam35a	APN	14	34268625	missense	probably benign	0.02
IGL00962:Fam35a	APN	14	34249251	missense	probably damaging	1.00
IGL01288:Fam35a	APN	14	34259643	missense	probably benign	0.00
IGL01302:Fam35a	APN	14	34259727	missense	probably benign	0.03
IGL01312:Fam35a	APN	14	34268193	missense	possibly damaging	0.56
IGL01444:Fam35a	APN	14	34237557	missense	probably damaging	1.00
IGL01633:Fam35a	APN	14	34249179	missense	probably damaging	1.00
IGL02251:Fam35a	APN	14	34268278	missense	probably benign	0.10
IGL02927:Fam35a	APN	14	34267701	missense	probably damaging	1.00
IGL03183:Fam35a	APN	14	34245186	missense	probably benign	0.02
IGL03226:Fam35a	APN	14	34268371	missense	probably benign	0.08
R0111:Fam35a	UTSW	14	34267729	missense	probably damaging	0.98
R1170:Fam35a	UTSW	14	34268491	missense	possibly damaging	0.92
R1348:Fam35a	UTSW	14	34268923	missense	probably damaging	1.00
R1467:Fam35a	UTSW	14	34268662	missense	possibly damaging	0.92
R1467:Fam35a	UTSW	14	34268662	missense	possibly damaging	0.92
R1538:Fam35a	UTSW	14	34268876	missense	probably damaging	1.00
R1602:Fam35a	UTSW	14	34267650	missense	probably damaging	1.00
R1650:Fam35a	UTSW	14	34259617	intron	probably benign
R1777:Fam35a	UTSW	14	34268173	missense	probably benign	0.07
R1843:Fam35a	UTSW	14	34267803	missense	probably benign	0.01
R2425:Fam35a	UTSW	14	34268689	missense	probably damaging	0.96
R3837:Fam35a	UTSW	14	34249185	missense	probably damaging	0.99
R3838:Fam35a	UTSW	14	34245368	missense	probably benign	0.01
R3904:Fam35a	UTSW	14	34259709	missense	probably damaging	1.00
R3964:Fam35a	UTSW	14	34259687	missense	probably damaging	1.00
R4322:Fam35a	UTSW	14	34259675	missense	probably damaging	0.99
R4771:Fam35a	UTSW	14	34268706	missense	probably damaging	1.00
R4838:Fam35a	UTSW	14	34268625	missense	probably benign	0.02
R5448:Fam35a	UTSW	14	34268370	missense	probably benign	0.32
R5874:Fam35a	UTSW	14	34245258	missense	probably benign	0.08
R6332:Fam35a	UTSW	14	34268172	missense	probably benign	0.07
R6333:Fam35a	UTSW	14	34267608	missense	probably damaging	1.00
R6476:Fam35a	UTSW	14	34268014	missense	probably benign	0.27
R6576:Fam35a	UTSW	14	34268242	missense	probably damaging	1.00
R7172:Fam35a	UTSW	14	34237568	missense	probably damaging	1.00
R7574:Fam35a	UTSW	14	34237466	missense	probably damaging	1.00
R7725:Fam35a	UTSW	14	34268704	missense	possibly damaging	0.86
R7755:Fam35a	UTSW	14	34248890	missense	probably damaging	0.99
X0009:Fam35a	UTSW	14	34245186	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- ACATGACATGGGGTTAGCAC -3'
(R):5'- GCCAAGTGTATTCCCTGGAAC -3'

Sequencing Primer
(F):5'- TGGGGTTAGCACCATGACTAAGC -3'
(R):5'- CCTGTTTGTCCTGAATCAGAAAGCAG -3'

Posted On

2015-10-21