Mutagenetix > Incidental Mutation

Incidental Mutation 'R0600:Fam208b'

55338

Institutional Source

Beutler Lab

Gene Symbol

Fam208b

Ensembl Gene

ENSMUSG00000033799

Gene Name

family with sequence similarity 208, member B

Synonyms

BC016423

MMRRC Submission

038789-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R0600 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3566035-3611108 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 3576054 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 1299 (F1299I)

Ref Sequence

ENSEMBL: ENSMUSP00000093774 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096069]

AlphaFold

Q5DTT3

Predicted Effect

probably benign
Transcript: ENSMUST00000096069
AA Change: F1299I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000093774
Gene: ENSMUSG00000033799
AA Change: F1299I

Domain	Start	End	E-Value	Type
Pfam:DUF3699	91	167	1.4e-24	PFAM
low complexity region	272	282	N/A	INTRINSIC
low complexity region	447	459	N/A	INTRINSIC
Pfam:DUF3715	533	695	2.3e-25	PFAM
low complexity region	1156	1168	N/A	INTRINSIC
low complexity region	1196	1207	N/A	INTRINSIC
low complexity region	1312	1330	N/A	INTRINSIC
low complexity region	2012	2021	N/A	INTRINSIC
low complexity region	2250	2263	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221059

Predicted Effect

unknown
Transcript: ENSMUST00000222909
AA Change: F617I

Meta Mutation Damage Score

0.0620

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 93.5%

Validation Efficiency

99% (95/96)

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	A	G	7: 131,357,660 (GRCm38)	S150P	probably damaging	Het
4932431P20Rik	T	A	7: 29,533,265 (GRCm38)		noncoding transcript	Het
5530400C23Rik	T	G	6: 133,293,211 (GRCm38)		probably benign	Het
Ahctf1	A	C	1: 179,763,468 (GRCm38)		probably null	Het
Ang5	T	C	14: 43,962,749 (GRCm38)	V90A	probably benign	Het
Ano9	C	T	7: 141,104,710 (GRCm38)	G442R	probably damaging	Het
Apaf1	G	A	10: 91,060,052 (GRCm38)	T386I	probably damaging	Het
Apob	C	A	12: 8,006,440 (GRCm38)	H1608N	probably damaging	Het
Arhgap12	C	A	18: 6,064,433 (GRCm38)		probably benign	Het
Asxl1	T	A	2: 153,399,904 (GRCm38)	D791E	probably benign	Het
Avl9	T	C	6: 56,736,906 (GRCm38)	V383A	probably benign	Het
Btbd1	A	C	7: 81,816,006 (GRCm38)	D197E	probably damaging	Het
C87499	A	T	4: 88,629,299 (GRCm38)	I45K	probably damaging	Het
Camta2	T	C	11: 70,673,959 (GRCm38)	I938V	possibly damaging	Het
Cdca7	C	A	2: 72,483,467 (GRCm38)	A200D	possibly damaging	Het
Cep104	A	T	4: 154,006,792 (GRCm38)	Y923F	possibly damaging	Het
Cep135	G	C	5: 76,621,305 (GRCm38)	V601L	probably benign	Het
Ces2b	G	A	8: 104,835,910 (GRCm38)	G291S	probably benign	Het
Col6a6	C	T	9: 105,761,440 (GRCm38)	G1400D	probably damaging	Het
Cyth2	T	C	7: 45,813,117 (GRCm38)	E1G	probably damaging	Het
Dand5	A	T	8: 84,816,292 (GRCm38)	L185Q	probably damaging	Het
Dck	T	C	5: 88,781,221 (GRCm38)	V253A	probably benign	Het
Ddx20	A	G	3: 105,679,080 (GRCm38)	S650P	probably damaging	Het
Dicer1	G	A	12: 104,706,864 (GRCm38)	P799S	probably damaging	Het
Dst	C	T	1: 34,189,119 (GRCm38)	P1606L	probably damaging	Het
Eya2	G	A	2: 165,769,237 (GRCm38)	C477Y	probably damaging	Het
Fip1l1	T	A	5: 74,595,842 (GRCm38)	N498K	probably damaging	Het
Flt4	C	T	11: 49,636,339 (GRCm38)		probably benign	Het
Galntl6	T	C	8: 57,837,183 (GRCm38)		probably null	Het
Gda	A	T	19: 21,434,303 (GRCm38)	F44I	possibly damaging	Het
Gli2	G	A	1: 118,840,389 (GRCm38)	R703C	probably damaging	Het
Gm14085	A	T	2: 122,514,398 (GRCm38)	I162F	probably damaging	Het
Golgb1	T	A	16: 36,916,271 (GRCm38)	L1960Q	probably damaging	Het
Gramd1b	T	C	9: 40,308,355 (GRCm38)	D341G	probably damaging	Het
Grid2	G	T	6: 63,503,435 (GRCm38)	A78S	probably benign	Het
Hao2	A	T	3: 98,883,560 (GRCm38)		probably benign	Het
Hook3	A	G	8: 26,118,986 (GRCm38)	V10A	probably benign	Het
Kif20a	A	G	18: 34,629,209 (GRCm38)	E425G	probably damaging	Het
Lrp1	T	C	10: 127,567,383 (GRCm38)	D2107G	probably benign	Het
Lrriq3	T	C	3: 155,187,736 (GRCm38)	I358T	possibly damaging	Het
Mad2l2	A	G	4: 148,140,924 (GRCm38)	D17G	possibly damaging	Het
Mastl	G	T	2: 23,133,346 (GRCm38)	T455K	probably benign	Het
Mkln1	G	T	6: 31,432,927 (GRCm38)		probably benign	Het
Mmp1b	A	T	9: 7,387,947 (GRCm38)	Y16N	possibly damaging	Het
Mmp24	C	T	2: 155,792,597 (GRCm38)	A79V	probably benign	Het
Mrps35	T	A	6: 147,070,734 (GRCm38)	C292S	possibly damaging	Het
Myom1	T	C	17: 71,120,648 (GRCm38)	F1435L	possibly damaging	Het
Nars2	C	T	7: 97,039,923 (GRCm38)	H351Y	probably damaging	Het
Nat2	A	T	8: 67,501,267 (GRCm38)	I10F	probably damaging	Het
Nfix	G	A	8: 84,726,526 (GRCm38)	R300C	probably damaging	Het
Olfm5	A	T	7: 104,153,869 (GRCm38)	Y462*	probably null	Het
Olfr1228	C	A	2: 89,249,398 (GRCm38)	E87*	probably null	Het
Olfr1339	C	T	4: 118,734,789 (GRCm38)	H87Y	probably damaging	Het
Olfr1508	T	C	14: 52,463,509 (GRCm38)	I167V	probably benign	Het
Olfr322	C	A	11: 58,666,160 (GRCm38)	F200L	probably damaging	Het
Olfr340	C	A	2: 36,452,648 (GRCm38)	A21E	probably benign	Het
Olfr44	A	T	9: 39,484,988 (GRCm38)	F85L	probably benign	Het
Olfr495	T	A	7: 108,395,231 (GRCm38)	I37N	probably damaging	Het
Olfr855	T	C	9: 19,585,304 (GRCm38)	S256P	possibly damaging	Het
Olfr926	T	A	9: 38,877,815 (GRCm38)	I213N	probably damaging	Het
Otog	A	T	7: 46,251,395 (GRCm38)		probably benign	Het
Pdcd2l	A	T	7: 34,192,807 (GRCm38)	D212E	possibly damaging	Het
Pex5	T	C	6: 124,404,637 (GRCm38)	N213S	probably benign	Het
Pkn3	C	T	2: 30,081,134 (GRCm38)	P238S	probably benign	Het
Prl2b1	A	T	13: 27,390,740 (GRCm38)		probably null	Het
Ptprb	A	T	10: 116,368,807 (GRCm38)	I1849L	possibly damaging	Het
Rasal3	G	T	17: 32,393,526 (GRCm38)	S787Y	probably damaging	Het
Scn2a	T	A	2: 65,701,833 (GRCm38)	D596E	possibly damaging	Het
Sdhd	A	T	9: 50,603,764 (GRCm38)	V9D	possibly damaging	Het
Serinc5	T	C	13: 92,708,057 (GRCm38)	S436P	probably damaging	Het
Slc27a1	C	T	8: 71,584,164 (GRCm38)	P348L	probably damaging	Het
Smg1	G	A	7: 118,160,383 (GRCm38)		probably benign	Het
Sorl1	A	T	9: 42,043,900 (GRCm38)		probably benign	Het
Sprtn	T	A	8: 124,900,218 (GRCm38)	H112Q	probably damaging	Het
Tet2	T	A	3: 133,467,725 (GRCm38)	D1592V	probably benign	Het
Tet2	A	G	3: 133,467,602 (GRCm38)	M1633T	probably benign	Het
Tmem68	A	T	4: 3,569,667 (GRCm38)	C8S	probably damaging	Het
Tnrc6a	T	A	7: 123,171,816 (GRCm38)	I943N	probably benign	Het
Trib2	A	T	12: 15,794,068 (GRCm38)	V191D	probably damaging	Het
Tsc22d4	T	C	5: 137,762,655 (GRCm38)	S113P	probably damaging	Het
Ttc21b	T	C	2: 66,239,570 (GRCm38)	R250G	probably damaging	Het
Ubr2	T	C	17: 46,967,248 (GRCm38)	Y721C	probably damaging	Het
Ubtfl1	A	T	9: 18,409,364 (GRCm38)	I63F	probably damaging	Het
Ush1c	G	A	7: 46,224,908 (GRCm38)	P171S	probably benign	Het
Utp20	A	T	10: 88,767,461 (GRCm38)	N1843K	probably damaging	Het
Vangl1	A	G	3: 102,166,937 (GRCm38)	Y285H	probably damaging	Het
Virma	A	G	4: 11,498,769 (GRCm38)	D70G	probably damaging	Het
Vmn2r102	T	C	17: 19,678,015 (GRCm38)	F431L	probably benign	Het
Wdr17	A	G	8: 54,661,495 (GRCm38)	I662T	probably damaging	Het
Wisp2	G	A	2: 163,825,313 (GRCm38)	C78Y	probably damaging	Het
Zfp160	G	A	17: 21,027,006 (GRCm38)	R606H	probably benign	Het
Zfp369	C	T	13: 65,296,434 (GRCm38)	R464C	probably damaging	Het

Other mutations in Fam208b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00330:Fam208b	APN	13	3,574,832 (GRCm38)	missense	probably benign
IGL00670:Fam208b	APN	13	3,585,241 (GRCm38)	missense	probably benign	0.14
IGL00957:Fam208b	APN	13	3,577,101 (GRCm38)	missense	possibly damaging	0.86
IGL01311:Fam208b	APN	13	3,575,885 (GRCm38)	missense	possibly damaging	0.85
IGL01318:Fam208b	APN	13	3,575,067 (GRCm38)	missense	possibly damaging	0.66
IGL01767:Fam208b	APN	13	3,576,633 (GRCm38)	missense	probably benign	0.00
IGL02073:Fam208b	APN	13	3,574,721 (GRCm38)	missense	probably benign	0.01
IGL02152:Fam208b	APN	13	3,585,371 (GRCm38)	missense	probably benign
IGL02431:Fam208b	APN	13	3,574,736 (GRCm38)	missense	possibly damaging	0.85
IGL02478:Fam208b	APN	13	3,574,661 (GRCm38)	missense	probably benign	0.12
IGL02732:Fam208b	APN	13	3,573,626 (GRCm38)	missense	probably benign	0.09
IGL02745:Fam208b	APN	13	3,585,140 (GRCm38)	missense	probably benign	0.23
IGL02800:Fam208b	APN	13	3,585,154 (GRCm38)	missense	probably benign
IGL02989:Fam208b	APN	13	3,584,820 (GRCm38)	missense	probably benign	0.01
IGL03124:Fam208b	APN	13	3,574,704 (GRCm38)	missense	probably benign	0.41
IGL03154:Fam208b	APN	13	3,575,255 (GRCm38)	missense	possibly damaging	0.56
IGL03216:Fam208b	APN	13	3,574,553 (GRCm38)	missense	probably damaging	0.98
BB001:Fam208b	UTSW	13	3,594,331 (GRCm38)	missense	possibly damaging	0.92
BB011:Fam208b	UTSW	13	3,594,331 (GRCm38)	missense	possibly damaging	0.92
H8562:Fam208b	UTSW	13	3,577,000 (GRCm38)	missense	probably damaging	0.98
PIT4585001:Fam208b	UTSW	13	3,574,979 (GRCm38)	missense	possibly damaging	0.55
R0016:Fam208b	UTSW	13	3,585,170 (GRCm38)	splice site	probably null
R0016:Fam208b	UTSW	13	3,585,170 (GRCm38)	splice site	probably null
R0157:Fam208b	UTSW	13	3,575,550 (GRCm38)	missense	probably benign	0.06
R0375:Fam208b	UTSW	13	3,596,842 (GRCm38)	missense	possibly damaging	0.85
R0403:Fam208b	UTSW	13	3,582,052 (GRCm38)	nonsense	probably null
R0472:Fam208b	UTSW	13	3,588,364 (GRCm38)	missense	possibly damaging	0.93
R0517:Fam208b	UTSW	13	3,566,964 (GRCm38)	missense	possibly damaging	0.94
R0586:Fam208b	UTSW	13	3,590,321 (GRCm38)	missense	probably damaging	0.99
R0659:Fam208b	UTSW	13	3,574,448 (GRCm38)	missense	probably damaging	0.99
R1257:Fam208b	UTSW	13	3,575,049 (GRCm38)	missense	probably benign	0.25
R1375:Fam208b	UTSW	13	3,576,029 (GRCm38)	missense	probably benign	0.06
R1443:Fam208b	UTSW	13	3,575,543 (GRCm38)	missense	probably benign	0.00
R1497:Fam208b	UTSW	13	3,570,409 (GRCm38)	missense	probably damaging	0.96
R1544:Fam208b	UTSW	13	3,590,413 (GRCm38)	missense	possibly damaging	0.68
R1554:Fam208b	UTSW	13	3,576,374 (GRCm38)	missense	possibly damaging	0.85
R1629:Fam208b	UTSW	13	3,574,121 (GRCm38)	missense	possibly damaging	0.84
R1633:Fam208b	UTSW	13	3,581,771 (GRCm38)	missense	possibly damaging	0.53
R1661:Fam208b	UTSW	13	3,573,860 (GRCm38)	missense	possibly damaging	0.63
R1673:Fam208b	UTSW	13	3,584,498 (GRCm38)	critical splice donor site	probably null
R1675:Fam208b	UTSW	13	3,569,507 (GRCm38)	missense	possibly damaging	0.65
R1781:Fam208b	UTSW	13	3,584,759 (GRCm38)	missense	possibly damaging	0.95
R1792:Fam208b	UTSW	13	3,590,559 (GRCm38)	missense	possibly damaging	0.91
R1826:Fam208b	UTSW	13	3,581,759 (GRCm38)	missense	probably damaging	0.98
R1920:Fam208b	UTSW	13	3,576,612 (GRCm38)	missense	possibly damaging	0.63
R1983:Fam208b	UTSW	13	3,574,853 (GRCm38)	missense	possibly damaging	0.92
R2016:Fam208b	UTSW	13	3,576,770 (GRCm38)	missense	probably benign	0.41
R2017:Fam208b	UTSW	13	3,576,770 (GRCm38)	missense	probably benign	0.41
R2220:Fam208b	UTSW	13	3,581,872 (GRCm38)	missense	probably benign	0.00
R2513:Fam208b	UTSW	13	3,582,150 (GRCm38)	missense	possibly damaging	0.53
R2898:Fam208b	UTSW	13	3,585,122 (GRCm38)	missense	possibly damaging	0.82
R2904:Fam208b	UTSW	13	3,582,185 (GRCm38)	missense	possibly damaging	0.53
R3149:Fam208b	UTSW	13	3,574,359 (GRCm38)	missense	probably damaging	0.98
R3623:Fam208b	UTSW	13	3,595,556 (GRCm38)	missense	probably benign
R3624:Fam208b	UTSW	13	3,595,556 (GRCm38)	missense	probably benign
R3725:Fam208b	UTSW	13	3,590,538 (GRCm38)	missense	probably benign	0.33
R3835:Fam208b	UTSW	13	3,575,292 (GRCm38)	missense	probably benign	0.01
R3890:Fam208b	UTSW	13	3,596,785 (GRCm38)	missense	probably damaging	0.96
R4023:Fam208b	UTSW	13	3,584,554 (GRCm38)	missense	probably damaging	0.99
R4024:Fam208b	UTSW	13	3,584,554 (GRCm38)	missense	probably damaging	0.99
R4025:Fam208b	UTSW	13	3,584,554 (GRCm38)	missense	probably damaging	0.99
R4050:Fam208b	UTSW	13	3,573,507 (GRCm38)	missense	probably benign	0.09
R4308:Fam208b	UTSW	13	3,569,498 (GRCm38)	missense	probably damaging	0.97
R4484:Fam208b	UTSW	13	3,581,831 (GRCm38)	missense	probably benign	0.12
R4674:Fam208b	UTSW	13	3,573,686 (GRCm38)	missense	possibly damaging	0.69
R4718:Fam208b	UTSW	13	3,574,495 (GRCm38)	missense	probably benign	0.00
R4745:Fam208b	UTSW	13	3,590,069 (GRCm38)	missense	probably benign	0.26
R4776:Fam208b	UTSW	13	3,570,391 (GRCm38)	missense	probably damaging	1.00
R4839:Fam208b	UTSW	13	3,584,807 (GRCm38)	missense	probably damaging	0.96
R4855:Fam208b	UTSW	13	3,566,680 (GRCm38)	splice site	probably null
R5049:Fam208b	UTSW	13	3,574,000 (GRCm38)	missense	probably benign	0.00
R5076:Fam208b	UTSW	13	3,576,357 (GRCm38)	missense	probably benign	0.41
R5287:Fam208b	UTSW	13	3,575,744 (GRCm38)	missense	probably benign	0.41
R5298:Fam208b	UTSW	13	3,595,613 (GRCm38)	splice site	probably null
R5379:Fam208b	UTSW	13	3,588,496 (GRCm38)	missense	probably benign	0.41
R5512:Fam208b	UTSW	13	3,595,517 (GRCm38)	missense	probably damaging	0.99
R5624:Fam208b	UTSW	13	3,584,996 (GRCm38)	missense	possibly damaging	0.66
R5750:Fam208b	UTSW	13	3,573,642 (GRCm38)	nonsense	probably null
R6114:Fam208b	UTSW	13	3,590,081 (GRCm38)	missense	probably damaging	1.00
R6118:Fam208b	UTSW	13	3,581,891 (GRCm38)	missense	possibly damaging	0.76
R6119:Fam208b	UTSW	13	3,581,891 (GRCm38)	missense	possibly damaging	0.76
R6269:Fam208b	UTSW	13	3,581,891 (GRCm38)	missense	possibly damaging	0.76
R6270:Fam208b	UTSW	13	3,581,891 (GRCm38)	missense	possibly damaging	0.76
R6271:Fam208b	UTSW	13	3,581,891 (GRCm38)	missense	possibly damaging	0.76
R6272:Fam208b	UTSW	13	3,581,891 (GRCm38)	missense	possibly damaging	0.76
R6525:Fam208b	UTSW	13	3,576,540 (GRCm38)	nonsense	probably null
R6550:Fam208b	UTSW	13	3,590,519 (GRCm38)	missense	possibly damaging	0.85
R6714:Fam208b	UTSW	13	3,594,189 (GRCm38)	missense	probably benign	0.00
R6797:Fam208b	UTSW	13	3,576,769 (GRCm38)	missense	probably benign	0.26
R6967:Fam208b	UTSW	13	3,574,819 (GRCm38)	missense	probably benign	0.22
R7016:Fam208b	UTSW	13	3,576,857 (GRCm38)	missense	possibly damaging	0.92
R7219:Fam208b	UTSW	13	3,590,521 (GRCm38)	missense	probably damaging	0.99
R7454:Fam208b	UTSW	13	3,585,332 (GRCm38)	missense	probably benign	0.21
R7570:Fam208b	UTSW	13	3,573,621 (GRCm38)	missense	probably damaging	0.99
R7571:Fam208b	UTSW	13	3,575,292 (GRCm38)	missense	probably benign	0.01
R7580:Fam208b	UTSW	13	3,574,752 (GRCm38)	missense	probably damaging	0.99
R7587:Fam208b	UTSW	13	3,568,849 (GRCm38)	missense	possibly damaging	0.83
R7657:Fam208b	UTSW	13	3,573,777 (GRCm38)	missense	probably damaging	0.98
R7810:Fam208b	UTSW	13	3,575,714 (GRCm38)	missense	possibly damaging	0.61
R7909:Fam208b	UTSW	13	3,573,765 (GRCm38)	missense	possibly damaging	0.93
R7924:Fam208b	UTSW	13	3,594,331 (GRCm38)	missense	possibly damaging	0.92
R7945:Fam208b	UTSW	13	3,576,085 (GRCm38)	missense	probably benign
R8005:Fam208b	UTSW	13	3,575,681 (GRCm38)	missense	probably benign
R8067:Fam208b	UTSW	13	3,569,602 (GRCm38)	missense	probably benign
R8112:Fam208b	UTSW	13	3,569,516 (GRCm38)	missense	probably damaging	1.00
R8162:Fam208b	UTSW	13	3,599,691 (GRCm38)	missense	probably damaging	0.96
R8170:Fam208b	UTSW	13	3,574,881 (GRCm38)	nonsense	probably null
R8240:Fam208b	UTSW	13	3,574,388 (GRCm38)	missense	probably benign
R8263:Fam208b	UTSW	13	3,590,016 (GRCm38)	missense	probably benign	0.03
R8263:Fam208b	UTSW	13	3,575,286 (GRCm38)	missense	possibly damaging	0.70
R8477:Fam208b	UTSW	13	3,575,079 (GRCm38)	missense	probably benign	0.18
R9022:Fam208b	UTSW	13	3,576,659 (GRCm38)	missense	probably benign
R9140:Fam208b	UTSW	13	3,588,441 (GRCm38)	missense	probably benign	0.04
R9167:Fam208b	UTSW	13	3,574,724 (GRCm38)	missense	probably benign
R9527:Fam208b	UTSW	13	3,585,191 (GRCm38)	missense	possibly damaging	0.61
R9535:Fam208b	UTSW	13	3,573,559 (GRCm38)	missense	possibly damaging	0.69
R9711:Fam208b	UTSW	13	3,599,667 (GRCm38)	missense	probably benign
X0024:Fam208b	UTSW	13	3,599,837 (GRCm38)	missense	probably null	0.99
X0025:Fam208b	UTSW	13	3,576,827 (GRCm38)	missense	probably benign	0.15
X0066:Fam208b	UTSW	13	3,588,441 (GRCm38)	missense	probably benign	0.04
Z1176:Fam208b	UTSW	13	3,588,429 (GRCm38)	missense	probably damaging	0.98
Z1176:Fam208b	UTSW	13	3,576,636 (GRCm38)	missense	probably benign	0.01
Z1177:Fam208b	UTSW	13	3,574,234 (GRCm38)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- ACTATGCTCACTGGGGACACTGAC -3'
(R):5'- TCCAGCGATGAGTGATGTAGCAGG -3'

Sequencing Primer
(F):5'- CTCCTGACTTAATCTGGGAGAAC -3'
(R):5'- ATAGTGGCAGTAGTAGTCTAAACC -3'

Posted On

2013-07-11