Mutagenetix > Incidental Mutations

Incidental Mutation 'R3838:Fam35a'

277020

Institutional Source

Beutler Lab

Gene Symbol

Fam35a

Ensembl Gene

ENSMUSG00000041471

Gene Name

family with sequence similarity 35, member A

Synonyms

3110001K24Rik

MMRRC Submission

040779-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

R3838 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34237033-34310493 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34245368 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 77 (D77G)

Ref Sequence

ENSEMBL: ENSMUSP00000154214 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111917] [ENSMUST00000228704]

Predicted Effect

probably benign
Transcript: ENSMUST00000111917
AA Change: D629G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000107548
Gene: ENSMUSG00000041471
AA Change: D629G

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: ENSMUST00000228704
AA Change: D77G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.8%
20x: 96.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700042G07Rik	A	G	4: 116,173,521	T41A	probably benign	Het
4930486L24Rik	A	G	13: 60,845,227	Y213H	probably damaging	Het
Alg8	C	T	7: 97,388,545	H379Y	probably damaging	Het
Arhgef25	T	C	10: 127,189,736	T12A	probably benign	Het
Arid4a	A	G	12: 71,075,785	E980G	possibly damaging	Het
Aspm	C	T	1: 139,478,054	H1560Y	probably benign	Het
Atg10	A	T	13: 90,937,380	I150K	probably damaging	Het
Bud13	A	C	9: 46,290,192	Q387P	possibly damaging	Het
Champ1	A	G	8: 13,879,939	Y699C	probably damaging	Het
Clstn1	A	G	4: 149,638,333	E476G	probably damaging	Het
Col2a1	T	C	15: 97,988,976	D345G	unknown	Het
Col2a1	A	T	15: 98,000,581		probably benign	Het
Col9a2	C	G	4: 121,054,258	R599G	probably damaging	Het
Dnajb2	G	A	1: 75,241,480		probably null	Het
Dock4	G	T	12: 40,794,624		probably null	Het
Epx	A	T	11: 87,874,830	L101Q	probably damaging	Het
F13a1	A	T	13: 37,047,424	N21K	probably damaging	Het
Fam13c	C	T	10: 70,542,648	S336L	probably damaging	Het
Foxj3	T	A	4: 119,616,624	H215Q	possibly damaging	Het
Gcnt4	A	T	13: 96,947,014	R273*	probably null	Het
Gpam	T	C	19: 55,080,458	N450S	probably benign	Het
Hivep2	C	A	10: 14,128,969	T437K	probably benign	Het
Hmcn2	T	C	2: 31,413,407	L3020P	probably damaging	Het
Hmgcr	A	G	13: 96,659,089	I324T	probably benign	Het
Ighmbp2	T	C	19: 3,271,658	Y367C	probably benign	Het
Lrrc14b	A	G	13: 74,363,545	C139R	possibly damaging	Het
Lsamp	A	T	16: 42,134,312	E174V	possibly damaging	Het
Mid1ip1	T	C	X: 10,718,381	V51A	possibly damaging	Het
Mrc2	G	A	11: 105,348,431		probably null	Het
Msn	C	A	X: 96,160,199	Q303K	probably damaging	Het
Myh7b	A	G	2: 155,632,989	K1816E	probably damaging	Het
Nap1l1	T	A	10: 111,495,322		probably null	Het
Nme2	T	A	11: 93,949,977	E252D	probably benign	Het
Ntpcr	G	A	8: 125,737,372	V79M	probably damaging	Het
Ogdh	C	T	11: 6,338,627	R235*	probably null	Het
Olfr1490	A	G	19: 13,654,957	D176G	probably benign	Het
Olfr825	C	A	10: 130,162,406	E307*	probably null	Het
Olfr959	A	G	9: 39,572,971	V96A	probably benign	Het
Pcdh20	T	C	14: 88,468,463	N467S	probably benign	Het
Pkhd1	G	A	1: 20,534,629	T1154I	possibly damaging	Het
Polq	G	T	16: 37,078,349	R2157I	probably damaging	Het
Reep6	C	A	10: 80,335,889	A533E	probably damaging	Het
Senp2	T	C	16: 22,009,735	S32P	probably damaging	Het
Sept11	T	A	5: 93,148,399	I52N	probably damaging	Het
Slc17a4	C	T	13: 23,901,769	R387H	probably benign	Het
Spdye4b	C	T	5: 143,192,329	T11I	probably benign	Het
Srrt	C	T	5: 137,302,125		probably null	Het
Sspo	T	A	6: 48,480,820	C3085S	probably damaging	Het
Stim1	C	T	7: 102,411,296	T182I	possibly damaging	Het
Thbs2	C	A	17: 14,687,851	V217L	probably benign	Het
Thpo	G	A	16: 20,728,748	R38C	probably damaging	Het
Tmem210	A	G	2: 25,288,432	E35G	possibly damaging	Het
Trim12c	T	A	7: 104,340,868		probably benign	Het
Tvp23b	A	G	11: 62,883,629	H33R	possibly damaging	Het
Usp14	A	G	18: 10,024,532		probably null	Het
Vmn2r73	A	G	7: 85,858,050	W685R	probably benign	Het
Zfp618	G	A	4: 63,133,564	A861T	probably benign	Het
Zfp715	A	G	7: 43,299,756	V260A	probably benign	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
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
R4708:Fam35a	UTSW	14	34267833	missense	probably benign	0.17
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
R7840:Fam35a	UTSW	14	34237566	missense	probably damaging	1.00
R7881:Fam35a	UTSW	14	34267767	missense	possibly damaging	0.63
R7947:Fam35a	UTSW	14	34268479	missense	probably benign	0.27
R8192:Fam35a	UTSW	14	34245216	missense	probably benign	0.04
R8443:Fam35a	UTSW	14	34267985	missense	probably benign	0.00
R8492:Fam35a	UTSW	14	34245232	missense	probably damaging	0.99
X0009:Fam35a	UTSW	14	34245186	missense	probably benign	0.02
Z1177:Fam35a	UTSW	14	34241471	missense	probably benign	0.31
Z1177:Fam35a	UTSW	14	34268598	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCTGATATCTTGACAAAGGAGGATG -3'
(R):5'- AGGGGCCCAAGACATCATTAG -3'

Sequencing Primer
(F):5'- ACAGGAAGACCACAGTGT -3'
(R):5'- GCCTGGACTCTAGAGAGATACTC -3'

Posted On

2015-04-06