Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01128:Fam178b'

50319

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam178b

Ensembl Gene

ENSMUSG00000046337

Gene Name

family with sequence similarity 178, member B

Synonyms

LOC381337, 1700024G10Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

IGL01128

Quality Score

Status

Chromosome

Chromosomal Location

36601773-36722264 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36683435 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 95 (V95E)

Ref Sequence

ENSEMBL: ENSMUSP00000132846 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114981] [ENSMUST00000170295]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000114981
AA Change: V95E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124023
Gene: ENSMUSG00000046337
AA Change: V95E

Domain	Start	End	E-Value	Type
low complexity region	22	31	N/A	INTRINSIC
low complexity region	33	44	N/A	INTRINSIC
Pfam:FAM178	89	371	3.4e-115	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000170295
AA Change: V95E

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

SMART Domains

Protein: ENSMUSP00000132846
Gene: ENSMUSG00000046337
AA Change: V95E

Domain	Start	End	E-Value	Type
low complexity region	22	31	N/A	INTRINSIC
low complexity region	33	44	N/A	INTRINSIC
Pfam:FAM178	86	385	1e-130	PFAM
low complexity region	395	410	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,834,475 (GRCm39)	V124I	probably damaging	Het
Adgrf5	G	T	17: 43,733,400 (GRCm39)	D75Y	possibly damaging	Het
Aen	G	A	7: 78,557,050 (GRCm39)	M299I	probably damaging	Het
Ahi1	A	G	10: 20,950,332 (GRCm39)	T128A	probably benign	Het
Bves	T	A	10: 45,229,944 (GRCm39)	F249L	probably damaging	Het
Capns1	T	C	7: 29,889,558 (GRCm39)	I214V	probably benign	Het
Cgnl1	G	T	9: 71,631,843 (GRCm39)	Q503K	possibly damaging	Het
Ep300	A	G	15: 81,514,207 (GRCm39)		probably benign	Het
Fam117b	T	A	1: 60,008,177 (GRCm39)	F337Y	probably damaging	Het
Gak	T	A	5: 108,740,236 (GRCm39)	M560L	probably damaging	Het
Gna11	C	A	10: 81,366,718 (GRCm39)	A331S	probably damaging	Het
Gtf3c3	A	C	1: 54,468,035 (GRCm39)	F201V	possibly damaging	Het
Kat6b	G	A	14: 21,710,928 (GRCm39)	R734H	probably benign	Het
Lag3	T	C	6: 124,886,380 (GRCm39)	D191G	probably damaging	Het
Mttp	T	A	3: 137,839,758 (GRCm39)		probably null	Het
Nlgn3	A	T	X: 100,363,698 (GRCm39)	T790S	probably benign	Het
Or11g27	A	G	14: 50,771,406 (GRCm39)	D179G	probably damaging	Het
Or5b123	G	A	19: 13,597,110 (GRCm39)	E195K	probably damaging	Het
Pkd2l2	T	A	18: 34,550,068 (GRCm39)	Y238N	probably damaging	Het
Plg	A	T	17: 12,615,586 (GRCm39)		probably benign	Het
Ptprm	A	T	17: 67,349,096 (GRCm39)	C376S	probably damaging	Het
Rexo1	T	C	10: 80,385,573 (GRCm39)	D495G	probably benign	Het
Rims1	A	T	1: 22,573,256 (GRCm39)	V315D	probably damaging	Het
Ros1	G	A	10: 52,018,424 (GRCm39)	Q745*	probably null	Het
Satb1	A	G	17: 52,112,317 (GRCm39)	V99A	probably damaging	Het
Sema3e	C	T	5: 14,282,129 (GRCm39)	P422S	probably damaging	Het
Stkld1	G	T	2: 26,841,483 (GRCm39)	W476L	probably benign	Het
Syna	T	C	5: 134,588,334 (GRCm39)	D205G	probably damaging	Het
Tas2r134	G	T	2: 51,517,671 (GRCm39)	C50F	probably damaging	Het
Togaram1	A	G	12: 65,027,650 (GRCm39)	T880A	probably benign	Het
Uckl1	T	C	2: 181,212,130 (GRCm39)	E363G	probably damaging	Het
Yeats2	T	A	16: 19,980,718 (GRCm39)		probably benign	Het

Other mutations in Fam178b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01070:Fam178b	APN	1	36,603,484 (GRCm39)	missense	possibly damaging	0.90
IGL01859:Fam178b	APN	1	36,698,446 (GRCm39)	missense	probably damaging	1.00
R0398:Fam178b	UTSW	1	36,671,487 (GRCm39)	splice site	probably benign
R1116:Fam178b	UTSW	1	36,617,669 (GRCm39)	nonsense	probably null
R1613:Fam178b	UTSW	1	36,639,273 (GRCm39)	missense	probably benign	0.01
R1623:Fam178b	UTSW	1	36,683,405 (GRCm39)	missense	probably damaging	1.00
R2276:Fam178b	UTSW	1	36,671,539 (GRCm39)	missense	probably damaging	1.00
R3706:Fam178b	UTSW	1	36,647,529 (GRCm39)	missense	probably damaging	1.00
R4535:Fam178b	UTSW	1	36,639,606 (GRCm39)	missense	probably benign	0.43
R4784:Fam178b	UTSW	1	36,671,496 (GRCm39)	splice site	probably null
R5372:Fam178b	UTSW	1	36,603,929 (GRCm39)	missense	possibly damaging	0.95
R5431:Fam178b	UTSW	1	36,671,566 (GRCm39)	missense	probably damaging	1.00
R6808:Fam178b	UTSW	1	36,639,216 (GRCm39)	missense	probably damaging	1.00
R7117:Fam178b	UTSW	1	36,639,548 (GRCm39)	missense	probably benign	0.04
R7308:Fam178b	UTSW	1	36,698,488 (GRCm39)	missense	probably benign
R7573:Fam178b	UTSW	1	36,671,533 (GRCm39)	missense	probably damaging	1.00
R7678:Fam178b	UTSW	1	36,603,532 (GRCm39)	missense	probably damaging	1.00
R9786:Fam178b	UTSW	1	36,603,517 (GRCm39)	missense	probably damaging	0.97

Posted On

2013-06-21