Mutagenetix > Incidental Mutation

Incidental Mutation 'R8779:Adap1'

670164

Institutional Source

Beutler Lab

Gene Symbol

Adap1

Ensembl Gene

ENSMUSG00000056413

Gene Name

ArfGAP with dual PH domains 1

Synonyms

4930431P11Rik, centaurin alpha 1, Centa1

MMRRC Submission

068721-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8779 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

139257631-139311377 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 139259173 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 338 (C338F)

Ref Sequence

ENSEMBL: ENSMUSP00000106489 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026976] [ENSMUST00000110865] [ENSMUST00000110878]

AlphaFold

E9PY16

Predicted Effect

probably benign
Transcript: ENSMUST00000026976

SMART Domains

Protein: ENSMUSP00000026976
Gene: ENSMUSG00000025858

Domain	Start	End	E-Value	Type
low complexity region	1	8	N/A	INTRINSIC
low complexity region	12	22	N/A	INTRINSIC
Pfam:DUF410	56	306	4.6e-79	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000110865
AA Change: C338F

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

SMART Domains

Protein: ENSMUSP00000106489
Gene: ENSMUSG00000056413
AA Change: C338F

Domain	Start	End	E-Value	Type
ArfGap	7	126	2.45e-60	SMART
PH	130	232	1.02e-5	SMART
PH	253	358	9.48e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110878

SMART Domains

Protein: ENSMUSP00000106502
Gene: ENSMUSG00000025858

Domain	Start	End	E-Value	Type
Pfam:DUF410	1	250	2.6e-108	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahsa1	A	G	12: 87,319,973 (GRCm39)	N256S	probably benign	Het
Ambra1	A	G	2: 91,747,719 (GRCm39)	I1152V	probably benign	Het
Ank2	A	T	3: 126,758,751 (GRCm39)	N149K	probably damaging	Het
Arid1b	G	A	17: 5,391,809 (GRCm39)	D1727N	probably benign	Het
Cntn5	A	T	9: 10,171,920 (GRCm39)	F88Y	probably benign	Het
Cpox	G	C	16: 58,491,229 (GRCm39)	E147Q	probably damaging	Het
Dip2c	T	C	13: 9,660,845 (GRCm39)	F902S	probably damaging	Het
Eif3c	T	C	7: 126,162,900 (GRCm39)	K128E	possibly damaging	Het
Fat4	A	T	3: 39,033,898 (GRCm39)	I2517F	probably damaging	Het
Galnt7	T	C	8: 58,037,245 (GRCm39)	N48S	probably benign	Het
Gcfc2	C	T	6: 81,925,298 (GRCm39)	T571I	probably benign	Het
Gem	T	C	4: 11,711,166 (GRCm39)	V119A	possibly damaging	Het
Gm3248	A	T	14: 5,943,869 (GRCm38)	N118K	probably benign	Het
Idh1	CA	CAA	1: 65,204,347 (GRCm39)		probably null	Het
Igkv14-130	T	A	6: 67,768,311 (GRCm39)	W57R	probably damaging	Het
Irag2	A	G	6: 145,083,925 (GRCm39)	E30G	probably benign	Het
Itch	T	A	2: 155,014,440 (GRCm39)	D92E	probably benign	Het
Jakmip1	G	C	5: 37,386,672 (GRCm39)	E1428Q	unknown	Het
Kazn	T	C	4: 141,881,856 (GRCm39)	E128G		Het
Myo3a	C	A	2: 22,250,404 (GRCm39)	Y90*	probably null	Het
Npas2	A	C	1: 39,377,267 (GRCm39)	D543A	probably damaging	Het
Or5ae1	A	G	7: 84,565,397 (GRCm39)	T137A	possibly damaging	Het
Or5v1	A	G	17: 37,809,718 (GRCm39)	M59V	probably damaging	Het
Or8g52	A	G	9: 39,630,636 (GRCm39)	T38A	probably damaging	Het
Pcdhgb4	G	T	18: 37,854,835 (GRCm39)	R410L	probably damaging	Het
Rexo1	A	G	10: 80,384,292 (GRCm39)	S656P	probably benign	Het
Rmnd5b	T	C	11: 51,518,459 (GRCm39)	E139G	possibly damaging	Het
Scn1a	C	T	2: 66,181,257 (GRCm39)		probably benign	Het
Sdk1	T	C	5: 141,948,457 (GRCm39)	S601P	probably benign	Het
Smpd3	A	G	8: 106,992,121 (GRCm39)	V144A	probably benign	Het
Snrk	T	C	9: 121,995,688 (GRCm39)	I489T	probably damaging	Het
Thoc1	A	G	18: 9,993,366 (GRCm39)	E575G	probably benign	Het
Usp16	A	G	16: 87,276,297 (GRCm39)	D545G	probably benign	Het
Vmn2r81	G	A	10: 79,103,218 (GRCm39)	C137Y	possibly damaging	Het
Zfp536	T	A	7: 37,267,692 (GRCm39)	K575*	probably null	Het

Other mutations in Adap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02601:Adap1	APN	5	139,293,541 (GRCm39)	missense	probably damaging	1.00
R0012:Adap1	UTSW	5	139,293,489 (GRCm39)	splice site	probably benign
R0012:Adap1	UTSW	5	139,293,489 (GRCm39)	splice site	probably benign
R0137:Adap1	UTSW	5	139,278,976 (GRCm39)	splice site	probably benign
R1959:Adap1	UTSW	5	139,259,096 (GRCm39)	missense	probably benign	0.01
R2913:Adap1	UTSW	5	139,260,576 (GRCm39)	splice site	probably null
R2930:Adap1	UTSW	5	139,293,621 (GRCm39)	missense	probably benign	0.00
R6154:Adap1	UTSW	5	139,293,531 (GRCm39)	missense	possibly damaging	0.68
R6291:Adap1	UTSW	5	139,259,246 (GRCm39)	missense	probably benign	0.01
R6735:Adap1	UTSW	5	139,278,900 (GRCm39)	missense	probably damaging	1.00
R7537:Adap1	UTSW	5	139,278,928 (GRCm39)	missense	possibly damaging	0.81
R7559:Adap1	UTSW	5	139,265,295 (GRCm39)	missense	probably damaging	1.00
R8431:Adap1	UTSW	5	139,259,180 (GRCm39)	missense	probably benign	0.43

Predicted Primers

PCR Primer
(F):5'- TTCTAACCTTGGGAGCTGC -3'
(R):5'- TCCTCAGGGTCCTAGATAGC -3'

Sequencing Primer
(F):5'- GCTGCCAGCTCACTCAG -3'
(R):5'- CTCAGGGTCCTAGATAGCTGTGC -3'

Posted On

2021-04-30