Mutagenetix > Incidental Mutation

Incidental Mutation 'R6644:Fam168b'

525970

Institutional Source

Beutler Lab

Gene Symbol

Fam168b

Ensembl Gene

ENSMUSG00000037503

Gene Name

family with sequence similarity 168, member B

Synonyms

MMRRC Submission

044765-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R6644 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34852307-34882094 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 34875822 bp (GRCm39)

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: 97.5%
20x: 92.3%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	C	T	10: 79,844,598 (GRCm39)	P1461L	probably damaging	Het
Abhd14a	T	C	9: 106,321,472 (GRCm39)	Y10C	probably damaging	Het
Adcy2	C	T	13: 68,816,671 (GRCm39)	V772M	possibly damaging	Het
Apob	A	G	12: 8,059,077 (GRCm39)	M2487V	probably damaging	Het
B4galnt1	T	C	10: 127,007,662 (GRCm39)		probably null	Het
Cabp7	C	T	11: 4,690,396 (GRCm39)	V76I	probably benign	Het
Cbr3	A	G	16: 93,487,399 (GRCm39)	Y194C	probably damaging	Het
Cdk18	G	A	1: 132,049,807 (GRCm39)	Q58*	probably null	Het
Cryba4	T	C	5: 112,394,628 (GRCm39)	D167G	probably damaging	Het
Czib	T	G	4: 107,752,119 (GRCm39)	I130S	probably damaging	Het
Dner	T	C	1: 84,373,428 (GRCm39)	N588S	probably damaging	Het
Dnm1l	T	C	16: 16,147,737 (GRCm39)	I343V	probably benign	Het
Eif1ad16	A	G	12: 87,985,460 (GRCm39)	F28L	probably benign	Het
Fbxw17	G	A	13: 50,577,255 (GRCm39)	R49Q	probably damaging	Het
Garin2	T	A	12: 78,762,060 (GRCm39)	D241E	probably damaging	Het
Gm10332	T	A	14: 55,057,616 (GRCm39)	F59I	probably damaging	Het
Gnai3	A	G	3: 108,030,852 (GRCm39)		probably null	Het
Helz	T	A	11: 107,523,087 (GRCm39)	M75K	possibly damaging	Het
Hnrnph3	C	T	10: 62,854,672 (GRCm39)		probably benign	Het
Ifi211	C	T	1: 173,733,118 (GRCm39)	C181Y	probably benign	Het
Immp1l	A	G	2: 105,767,390 (GRCm39)	K83R	probably damaging	Het
Itga6	G	A	2: 71,671,468 (GRCm39)	G740R	probably damaging	Het
Klhl1	T	C	14: 96,755,354 (GRCm39)	T134A	probably benign	Het
Klhl7	A	G	5: 24,354,244 (GRCm39)	D353G	probably damaging	Het
Map3k1	A	G	13: 111,888,983 (GRCm39)	S1325P	probably benign	Het
Map3k4	A	G	17: 12,451,297 (GRCm39)		probably null	Het
Meioc	G	A	11: 102,559,286 (GRCm39)		probably null	Het
Mfap5	T	C	6: 122,497,555 (GRCm39)	F26L	probably damaging	Het
Myo5a	A	G	9: 75,054,249 (GRCm39)	T386A	probably damaging	Het
Npc1l1	A	T	11: 6,164,013 (GRCm39)	L1266Q	probably damaging	Het
Npc1l1	G	T	11: 6,164,014 (GRCm39)	L1266M	probably damaging	Het
Or4c116	A	G	2: 88,942,325 (GRCm39)	M177T	probably benign	Het
Or51aa2	C	A	7: 103,188,265 (GRCm39)	V59F	possibly damaging	Het
Pbld1	T	A	10: 62,910,842 (GRCm39)	S233T	probably damaging	Het
Phf12	A	G	11: 77,916,918 (GRCm39)	*789W	probably null	Het
Sf3b2	A	T	19: 5,329,992 (GRCm39)		probably null	Het
Slc23a3	A	G	1: 75,105,191 (GRCm39)	I459T	probably damaging	Het
Spata31e4	A	G	13: 50,856,071 (GRCm39)	T570A	possibly damaging	Het
Sptbn2	C	G	19: 4,799,040 (GRCm39)	R2037G	probably benign	Het
Stard9	A	C	2: 120,526,253 (GRCm39)	M837L	probably benign	Het
Stx5a	A	T	19: 8,732,612 (GRCm39)		probably benign	Het
Tmc7	A	G	7: 118,137,385 (GRCm39)	V719A	probably benign	Het
Trank1	T	A	9: 111,193,902 (GRCm39)	I642K	possibly damaging	Het
Trim34a	T	C	7: 103,910,244 (GRCm39)	Y349H	probably damaging	Het
Uba7	A	G	9: 107,858,671 (GRCm39)	Y834C	possibly damaging	Het
Ube2d1	A	G	10: 71,092,530 (GRCm39)	S105P	possibly damaging	Het
Vps13a	A	G	19: 16,722,283 (GRCm39)	V343A	possibly damaging	Het
Zbtb37	G	A	1: 160,859,643 (GRCm39)	Q221*	probably null	Het
Zfp119b	T	C	17: 56,246,148 (GRCm39)	N346S	probably benign	Het
Zfp708	G	T	13: 67,218,785 (GRCm39)	T358K	possibly damaging	Het

Other mutations in Fam168b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Fam168b	APN	1	34,875,883 (GRCm39)	start codon destroyed	probably null	0.58
R0207:Fam168b	UTSW	1	34,858,769 (GRCm39)	missense	probably damaging	0.98
R2008:Fam168b	UTSW	1	34,858,946 (GRCm39)	critical splice donor site	probably null
R4020:Fam168b	UTSW	1	34,867,860 (GRCm39)	missense	possibly damaging	0.71
R4617:Fam168b	UTSW	1	34,859,063 (GRCm39)	missense	possibly damaging	0.90
R5154:Fam168b	UTSW	1	34,857,180 (GRCm39)	missense	possibly damaging	0.83
R6167:Fam168b	UTSW	1	34,858,684 (GRCm39)	missense	probably damaging	1.00
R6600:Fam168b	UTSW	1	34,875,822 (GRCm39)	missense	probably damaging	1.00
R6602:Fam168b	UTSW	1	34,875,822 (GRCm39)	missense	probably damaging	1.00
R6603:Fam168b	UTSW	1	34,875,822 (GRCm39)	missense	probably damaging	1.00
R6627:Fam168b	UTSW	1	34,875,822 (GRCm39)	missense	probably damaging	1.00
R6628:Fam168b	UTSW	1	34,875,822 (GRCm39)	missense	probably damaging	1.00
R6692:Fam168b	UTSW	1	34,875,822 (GRCm39)	missense	probably damaging	1.00
R6705:Fam168b	UTSW	1	34,867,864 (GRCm39)	missense	probably damaging	0.98
R6985:Fam168b	UTSW	1	34,858,789 (GRCm39)	missense	probably damaging	1.00
R7387:Fam168b	UTSW	1	34,858,789 (GRCm39)	missense	probably damaging	1.00
R8992:Fam168b	UTSW	1	34,858,862 (GRCm39)	missense	probably benign	0.00
Z1177:Fam168b	UTSW	1	34,858,963 (GRCm39)	nonsense	probably null

Predicted Primers

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

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

Posted On

2018-06-22