Mutagenetix > Incidental Mutation

Incidental Mutation 'R1505:Fam162b'

169123

Institutional Source

Beutler Lab

Gene Symbol

Fam162b

Ensembl Gene

ENSMUSG00000019909

Gene Name

family with sequence similarity 162, member B

Synonyms

9430073N08Rik

MMRRC Submission

040868-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R1505 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

51461512-51466613 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 51463298 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 123 (A123V)

Ref Sequence

ENSEMBL: ENSMUSP00000020064 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020064]

AlphaFold

Q9CX19

Predicted Effect

probably damaging
Transcript: ENSMUST00000020064
AA Change: A123V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000020064
Gene: ENSMUSG00000019909
AA Change: A123V

Domain	Start	End	E-Value	Type
Pfam:DUF1075	15	154	3.8e-56	PFAM

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.5%
20x: 86.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	T	A	5: 105,099,431 (GRCm39)	R444W	probably damaging	Het
Adnp	A	G	2: 168,025,661 (GRCm39)	S545P	possibly damaging	Het
Ankrd17	T	C	5: 90,447,885 (GRCm39)	R219G	possibly damaging	Het
Ap2m1	C	G	16: 20,361,447 (GRCm39)	P372A	probably benign	Het
Calml3	T	A	13: 3,854,071 (GRCm39)	T45S	probably benign	Het
Casp8	A	G	1: 58,868,081 (GRCm39)	E174G	probably damaging	Het
Ces4a	G	A	8: 105,864,729 (GRCm39)	G69S	probably damaging	Het
Cfap221	A	C	1: 119,881,358 (GRCm39)	L368R	probably benign	Het
Chd9	A	G	8: 91,733,123 (GRCm39)		probably null	Het
Cnot1	A	T	8: 96,455,295 (GRCm39)	I2035N	probably damaging	Het
Cyp2c67	T	C	19: 39,637,408 (GRCm39)	R23G	probably benign	Het
Dnah10	A	C	5: 124,831,303 (GRCm39)	H777P	possibly damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Golgb1	T	A	16: 36,740,005 (GRCm39)	N2781K	possibly damaging	Het
Hs2st1	C	A	3: 144,140,322 (GRCm39)	R333L	probably benign	Het
Kmt2e	A	G	5: 23,705,533 (GRCm39)	H1319R	probably null	Het
Necab1	A	T	4: 14,960,047 (GRCm39)	M300K	probably benign	Het
Ntrk3	T	A	7: 78,110,272 (GRCm39)	I321F	probably damaging	Het
Or5p60	A	G	7: 107,724,200 (GRCm39)	V90A	probably benign	Het
Or7e169	A	T	9: 19,757,084 (GRCm39)	M277K	probably benign	Het
Or8g52	A	G	9: 39,630,774 (GRCm39)	N84D	probably damaging	Het
Or8k41	A	T	2: 86,313,557 (GRCm39)	H176Q	possibly damaging	Het
Osbpl6	T	C	2: 76,409,586 (GRCm39)	S483P	probably damaging	Het
Pcdhb17	A	C	18: 37,619,875 (GRCm39)	N555T	probably damaging	Het
Pdgfc	G	A	3: 81,116,543 (GRCm39)	R299H	possibly damaging	Het
Ptpn7	A	T	1: 135,062,302 (GRCm39)	T83S	probably benign	Het
Rapgef5	T	C	12: 117,652,354 (GRCm39)	V79A	possibly damaging	Het
Rexo5	T	A	7: 119,398,826 (GRCm39)	C54*	probably null	Het
Riok3	A	G	18: 12,285,935 (GRCm39)	K418R	probably benign	Het
Robo4	G	A	9: 37,314,523 (GRCm39)	G170D	probably damaging	Het
Rpl8	A	G	15: 76,788,610 (GRCm39)	D33G	possibly damaging	Het
Rspo2	T	C	15: 42,939,239 (GRCm39)	T184A	probably damaging	Het
Ryr2	A	T	13: 11,569,478 (GRCm39)	M4942K	possibly damaging	Het
Sel1l	T	C	12: 91,780,736 (GRCm39)	Y585C	probably damaging	Het
Slc25a11	G	T	11: 70,537,650 (GRCm39)	D13E	probably benign	Het
Slc5a6	G	T	5: 31,194,455 (GRCm39)	H584N	probably benign	Het
Snrpf	A	G	10: 93,419,381 (GRCm39)	V69A	possibly damaging	Het
Sorbs3	T	A	14: 70,428,251 (GRCm39)	K475*	probably null	Het
Speg	G	A	1: 75,352,186 (GRCm39)	V35I	probably benign	Het
Tlk2	T	G	11: 105,151,121 (GRCm39)	V468G	probably damaging	Het
Trim6	T	A	7: 103,881,771 (GRCm39)	W341R	probably damaging	Het
Ttll5	T	A	12: 85,926,184 (GRCm39)	I326N	probably damaging	Het
Vipas39	T	C	12: 87,292,934 (GRCm39)	Y318C	probably damaging	Het
Vmn1r185	T	A	7: 26,310,903 (GRCm39)	I201F	probably damaging	Het
Vwce	A	G	19: 10,641,608 (GRCm39)	H778R	probably benign	Het
Zbtb14	C	G	17: 69,694,759 (GRCm39)	I152M	probably benign	Het

Other mutations in Fam162b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00567:Fam162b	APN	10	51,466,390 (GRCm39)	missense	possibly damaging	0.94
IGL02948:Fam162b	APN	10	51,463,392 (GRCm39)	missense	probably damaging	1.00
R0709:Fam162b	UTSW	10	51,463,347 (GRCm39)	missense	probably damaging	1.00
R1185:Fam162b	UTSW	10	51,466,439 (GRCm39)	missense	probably benign
R1185:Fam162b	UTSW	10	51,466,439 (GRCm39)	missense	probably benign
R1185:Fam162b	UTSW	10	51,466,439 (GRCm39)	missense	probably benign
R1735:Fam162b	UTSW	10	51,463,307 (GRCm39)	missense	probably damaging	1.00
R1961:Fam162b	UTSW	10	51,466,430 (GRCm39)	missense	probably benign	0.00
R2401:Fam162b	UTSW	10	51,463,314 (GRCm39)	missense	probably damaging	0.99
R6059:Fam162b	UTSW	10	51,466,403 (GRCm39)	missense	probably benign	0.28
R6196:Fam162b	UTSW	10	51,463,506 (GRCm39)	splice site	probably null
R6284:Fam162b	UTSW	10	51,461,598 (GRCm39)	missense	probably damaging	0.99
R6625:Fam162b	UTSW	10	51,466,391 (GRCm39)	missense	probably damaging	1.00
R7324:Fam162b	UTSW	10	51,466,282 (GRCm39)	splice site	probably null
R7380:Fam162b	UTSW	10	51,466,572 (GRCm39)	start gained	probably benign
R8945:Fam162b	UTSW	10	51,466,469 (GRCm39)	missense	probably benign	0.02
R9415:Fam162b	UTSW	10	51,466,155 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AACTCGCTGAATGCAGAACAAGGTC -3'
(R):5'- TGGGCTACTCCAGCAATCAACCATC -3'

Sequencing Primer
(F):5'- GCAGAACAAGGTCCATAGCATTTC -3'
(R):5'- TTTATCATGCCCAGTCAGAAAGC -3'

Posted On

2014-04-13