Mutagenetix > Incidental Mutation

Incidental Mutation 'R6602:Fam168b'

525312

Institutional Source

Beutler Lab

Gene Symbol

Fam168b

Ensembl Gene

ENSMUSG00000037503

Gene Name

family with sequence similarity 168, member B

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.132) question?

Stock #

R6602 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34813219-34843065 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 34836741 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 21 (G21V)

Ref Sequence

ENSEMBL: ENSMUSP00000139456 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047534] [ENSMUST00000167518] [ENSMUST00000170092] [ENSMUST00000185231] [ENSMUST00000185469] [ENSMUST00000191307]

AlphaFold

Q80XQ8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047534
AA Change: G21V

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000042212
Gene: ENSMUSG00000037503
AA Change: G21V

Domain	Start	End	E-Value	Type
Pfam:TCRP1	1	194	1e-108	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140534

Predicted Effect

probably damaging
Transcript: ENSMUST00000167518
AA Change: G21V

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000131720
Gene: ENSMUSG00000037503
AA Change: G21V

Domain	Start	End	E-Value	Type
Pfam:TCRP1	1	62	3.3e-26	PFAM
Pfam:TCRP1	54	206	1.1e-89	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000170092
AA Change: G21V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000128676
Gene: ENSMUSG00000037503
AA Change: G21V

Domain	Start	End	E-Value	Type
Pfam:TCRP1	1	201	8.8e-108	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000185231
AA Change: G21V

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

SMART Domains

Protein: ENSMUSP00000139456
Gene: ENSMUSG00000037503
AA Change: G21V

Domain	Start	End	E-Value	Type
Pfam:TCRP1	1	90	7.5e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185279

Predicted Effect

probably damaging
Transcript: ENSMUST00000185469
AA Change: G21V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000141150
Gene: ENSMUSG00000037503
AA Change: G21V

Domain	Start	End	E-Value	Type
Pfam:TCRP1	1	66	3.6e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000191307
AA Change: G21V

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000140573
Gene: ENSMUSG00000037503
AA Change: G21V

Domain	Start	End	E-Value	Type
Pfam:TCRP1	1	206	2.8e-108	PFAM

Meta Mutation Damage Score

0.3811

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.6%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	A	G	8: 124,639,254	L250P	probably damaging	Het
4921539E11Rik	T	C	4: 103,255,572	H12R	probably benign	Het
Abca4	A	C	3: 122,138,501	Q268P	probably benign	Het
Adgrf5	T	A	17: 43,450,304	N963K	probably benign	Het
Arl10	A	G	13: 54,578,937	D176G	probably damaging	Het
Btnl1	T	A	17: 34,385,748	M501K	probably damaging	Het
Ccdc162	G	T	10: 41,615,980	T1079K	probably benign	Het
Cd163	T	A	6: 124,311,635	W342R	probably damaging	Het
Cd70	T	C	17: 57,149,562	S14G	probably benign	Het
Chil4	C	A	3: 106,210,590	K121N	probably benign	Het
Csf1r	A	G	18: 61,110,425	D171G	possibly damaging	Het
Cyp4a31	A	T	4: 115,569,707		probably null	Het
D3Ertd254e	G	T	3: 36,164,855	L341F	possibly damaging	Het
Dapk1	A	T	13: 60,749,204	I746F	probably benign	Het
Erbb4	A	G	1: 68,370,503	S192P	probably damaging	Het
Exoc8	C	A	8: 124,896,411	V406L	probably damaging	Het
Greb1	A	T	12: 16,709,440	V652E	probably benign	Het
Ift88	A	G	14: 57,507,259	S745G	probably benign	Het
Il18bp	T	C	7: 102,016,030		probably benign	Het
Il6st	A	G	13: 112,504,413	T908A	probably damaging	Het
Klk11	A	G	7: 43,774,774	S6G	probably benign	Het
Mastl	T	C	2: 23,132,677	Y678C	probably benign	Het
Msra	A	T	14: 64,123,339	H184Q	probably benign	Het
Muc16	A	C	9: 18,609,476		probably null	Het
Myo3a	T	G	2: 22,577,787	L351R	probably damaging	Het
Npy5r	GCTGTGAAACACTG	GCTG	8: 66,681,540		probably null	Het
Olfr463	T	C	11: 87,893,652	T91A	probably benign	Het
Olfr830	A	G	9: 18,875,849	D174G	possibly damaging	Het
Olfr867	C	T	9: 20,055,046	R139Q	probably benign	Het
Pcdhb18	A	T	18: 37,490,480	I288F	probably damaging	Het
Pitpna	T	G	11: 75,620,315	V238G	possibly damaging	Het
Ppfibp1	T	A	6: 146,978,221	V81E	possibly damaging	Het
Rab11fip2	T	A	19: 59,942,856	T49S	probably damaging	Het
Rsl24d1	T	A	9: 73,113,510	I3N	possibly damaging	Het
Rtn1	T	C	12: 72,219,318	N161S	probably damaging	Het
Shank1	A	G	7: 44,352,336	I1151V	probably benign	Het
Slc34a3	A	G	2: 25,229,209	S550P	probably damaging	Het
Slc4a1ap	A	G	5: 31,527,641	H207R	probably damaging	Het
Sphkap	T	A	1: 83,275,758	K1423N	possibly damaging	Het
Ttn	A	G	2: 76,881,753		probably benign	Het
Ubqln5	T	A	7: 104,129,489	S43C	probably benign	Het
Vps13d	G	A	4: 145,103,664		probably benign	Het
Wwp1	A	T	4: 19,641,816	V413D	probably damaging	Het

Other mutations in Fam168b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Fam168b	APN	1	34836802	start codon destroyed	probably null	0.58
R0207:Fam168b	UTSW	1	34819688	missense	probably damaging	0.98
R2008:Fam168b	UTSW	1	34819865	critical splice donor site	probably null
R4020:Fam168b	UTSW	1	34828779	missense	possibly damaging	0.71
R4617:Fam168b	UTSW	1	34819982	missense	possibly damaging	0.90
R5154:Fam168b	UTSW	1	34818099	missense	possibly damaging	0.83
R6167:Fam168b	UTSW	1	34819603	missense	probably damaging	1.00
R6600:Fam168b	UTSW	1	34836741	missense	probably damaging	1.00
R6603:Fam168b	UTSW	1	34836741	missense	probably damaging	1.00
R6627:Fam168b	UTSW	1	34836741	missense	probably damaging	1.00
R6628:Fam168b	UTSW	1	34836741	missense	probably damaging	1.00
R6644:Fam168b	UTSW	1	34836741	missense	probably damaging	1.00
R6692:Fam168b	UTSW	1	34836741	missense	probably damaging	1.00
R6705:Fam168b	UTSW	1	34828783	missense	probably damaging	0.98
R6985:Fam168b	UTSW	1	34819708	missense	probably damaging	1.00
R7387:Fam168b	UTSW	1	34819708	missense	probably damaging	1.00
R8992:Fam168b	UTSW	1	34819781	missense	probably benign	0.00
Z1177:Fam168b	UTSW	1	34819882	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGTCAGTTTGCCCACTGTC -3'
(R):5'- GGAGCAGCAGAAAATACTTTGC -3'

Sequencing Primer
(F):5'- GGTAAAACACTGTTGCCTGC -3'
(R):5'- GCAGCAGAAAATACTTTGCTTTATAG -3'

Posted On

2018-06-22