Mutagenetix > Incidental Mutations

Incidental Mutation 'R8124:Atf7ip2'

631670

Institutional Source

Beutler Lab

Gene Symbol

Atf7ip2

Ensembl Gene

ENSMUSG00000039200

Gene Name

activating transcription factor 7 interacting protein 2

Synonyms

4930558K11Rik, PSM2, Get-1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

R8124 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

10192712-10251478 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 10209135 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 89 (V89A)

Ref Sequence

ENSEMBL: ENSMUSP00000036731 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044005] [ENSMUST00000100191] [ENSMUST00000117220] [ENSMUST00000119023] [ENSMUST00000230872]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044005
AA Change: V89A

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000036731
Gene: ENSMUSG00000039200
AA Change: V89A

Domain	Start	End	E-Value	Type
Pfam:ATF7IP_BD	59	270	4.7e-75	PFAM
low complexity region	322	336	N/A	INTRINSIC
FN3	346	435	7.55e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000100191
AA Change: V89A

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

SMART Domains

Protein: ENSMUSP00000097766
Gene: ENSMUSG00000039200
AA Change: V89A

Domain	Start	End	E-Value	Type
low complexity region	180	192	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000117220
AA Change: V89A

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000113573
Gene: ENSMUSG00000039200
AA Change: V89A

Domain	Start	End	E-Value	Type
low complexity region	180	192	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000119023
AA Change: V89A

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

SMART Domains

Protein: ENSMUSP00000113480
Gene: ENSMUSG00000039200
AA Change: V89A

Domain	Start	End	E-Value	Type
low complexity region	180	192	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000230872

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.6%
20x: 94.5%

Validation Efficiency

98% (51/52)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap3	T	A	5: 24,478,130	I320N	probably benign	Het
Ahnak	G	A	19: 9,007,123	G1924S	probably damaging	Het
Ap2a2	G	A	7: 141,598,844	R141H	probably benign	Het
Clpsl2	G	A	17: 28,550,728	G55R	probably damaging	Het
Csnk2a2	G	A	8: 95,455,947	P296L		Het
Dab2	T	A	15: 6,429,397	C263*	probably null	Het
Dao	AGG	AG	5: 114,015,209		probably benign	Het
Ddx60	C	T	8: 61,983,911	A965V	probably benign	Het
Dennd5a	A	T	7: 109,897,935	I1119N	probably damaging	Het
Dpy30	A	G	17: 74,316,104		probably benign	Het
Epg5	G	A	18: 77,964,996	A780T	probably benign	Het
Etl4	A	G	2: 20,806,640	D1546G	probably benign	Het
Evl	C	T	12: 108,681,524	R295*	probably null	Het
F13a1	T	C	13: 37,025,805	K62R	probably damaging	Het
Gm2832	T	C	14: 41,278,937	M44T		Het
Gm884	A	G	11: 103,620,431	V237A	unknown	Het
Gm9195	T	C	14: 72,442,623	I2249V	probably benign	Het
Hmcn2	T	C	2: 31,400,124	V2323A	probably benign	Het
Ice2	T	A	9: 69,400,495	N20K	probably damaging	Het
Klf15	T	C	6: 90,466,881	F146S	probably damaging	Het
Lgi3	A	G	14: 70,534,738	Y241C	probably damaging	Het
Lig4	A	T	8: 9,972,954	D275E	probably damaging	Het
Lrit1	T	A	14: 37,062,048	S444R	probably benign	Het
Mip	T	C	10: 128,226,201	V107A	possibly damaging	Het
Myo15	G	A	11: 60,507,453	V1581M		Het
Nckap1l	A	G	15: 103,473,821	D481G	possibly damaging	Het
Obox3	A	T	7: 15,589,949		probably null	Het
Olfr1438-ps1	T	A	19: 12,333,470	N129Y	probably damaging	Het
Olfr491	C	A	7: 108,317,777	N294K	possibly damaging	Het
Olfr707	G	A	7: 106,891,881	T76I	possibly damaging	Het
Olfr749	C	T	14: 50,736,286	R292H	probably benign	Het
Olfr944	T	C	9: 39,217,671	F105L	probably benign	Het
Papd7	G	A	13: 69,533,597		probably benign	Het
Pilrb2	T	A	5: 137,871,044	E98V	probably damaging	Het
Plekhm1	A	G	11: 103,366,949	V1053A	probably benign	Het
Prdm2	A	T	4: 143,135,265	V485E	probably damaging	Het
Riox2	G	A	16: 59,486,591	E282K	probably benign	Het
Rps6ka2	T	A	17: 7,281,829	V379E	possibly damaging	Het
Skiv2l2	A	C	13: 112,927,337	D7E	probably benign	Het
Slc4a7	G	A	14: 14,729,211	E20K	possibly damaging	Het
Sned1	G	A	1: 93,282,989		probably null	Het
Spata3	C	T	1: 86,024,353	R110C	unknown	Het
St6gal1	G	A	16: 23,357,835	A393T	probably benign	Het
Tmem132d	T	C	5: 127,792,560	Q570R	probably damaging	Het
Tmem87a	T	C	2: 120,392,195	T168A	probably benign	Het
Trank1	A	G	9: 111,378,927	R1747G	probably benign	Het
Txk	C	T	5: 72,703,263		probably null	Het
Vcan	T	A	13: 89,704,254	L862F	possibly damaging	Het
Wdr64	A	T	1: 175,799,278		probably null	Het
Zfp106	G	T	2: 120,524,331	Q1343K	probably benign	Het
Zfp719	A	G	7: 43,589,890	T301A	probably benign	Het

Other mutations in Atf7ip2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01926:Atf7ip2	APN	16	10241885	missense	probably damaging	0.99
IGL01937:Atf7ip2	APN	16	10241537	splice site	probably null
IGL02301:Atf7ip2	APN	16	10211047	missense	probably benign	0.32
R0575:Atf7ip2	UTSW	16	10237211	missense	probably damaging	1.00
R0671:Atf7ip2	UTSW	16	10241879	missense	possibly damaging	0.86
R1119:Atf7ip2	UTSW	16	10240612	missense	possibly damaging	0.83
R1182:Atf7ip2	UTSW	16	10241835	missense	possibly damaging	0.93
R1302:Atf7ip2	UTSW	16	10240608	missense	possibly damaging	0.84
R1346:Atf7ip2	UTSW	16	10234331	missense	probably damaging	1.00
R1349:Atf7ip2	UTSW	16	10234331	missense	probably damaging	1.00
R1372:Atf7ip2	UTSW	16	10234331	missense	probably damaging	1.00
R1672:Atf7ip2	UTSW	16	10209141	missense	probably damaging	1.00
R1696:Atf7ip2	UTSW	16	10234331	missense	probably damaging	1.00
R1897:Atf7ip2	UTSW	16	10211084	missense	probably damaging	0.97
R1932:Atf7ip2	UTSW	16	10241703	missense	possibly damaging	0.86
R2143:Atf7ip2	UTSW	16	10240645	missense	probably null	0.68
R4612:Atf7ip2	UTSW	16	10241563	missense	probably benign	0.33
R4732:Atf7ip2	UTSW	16	10241886	missense	possibly damaging	0.92
R4733:Atf7ip2	UTSW	16	10241886	missense	possibly damaging	0.92
R4934:Atf7ip2	UTSW	16	10241583	missense	possibly damaging	0.72
R6137:Atf7ip2	UTSW	16	10201411	missense	probably damaging	0.99
R6432:Atf7ip2	UTSW	16	10204670	missense	probably damaging	1.00
R7298:Atf7ip2	UTSW	16	10209168	missense	possibly damaging	0.82
R7517:Atf7ip2	UTSW	16	10241535	splice site	probably null
R7744:Atf7ip2	UTSW	16	10241658	missense	possibly damaging	0.93
R8245:Atf7ip2	UTSW	16	10201398	missense	possibly damaging	0.93
R8527:Atf7ip2	UTSW	16	10237265	intron	probably benign
U24488:Atf7ip2	UTSW	16	10204673	missense	probably damaging	0.96
X0062:Atf7ip2	UTSW	16	10209274	splice site	probably null
Z1177:Atf7ip2	UTSW	16	10241640	missense	possibly damaging	0.52

Predicted Primers

PCR Primer
(F):5'- CATCAGGAAAGAGTAAAGCAGCTTC -3'
(R):5'- TCTCAATCTGTGGGTCATGAC -3'

Sequencing Primer
(F):5'- CAGACTAACTGGGTCTACATAGTG -3'
(R):5'- CTATACTGAAGGGCTGCAGC -3'

Posted On

2020-06-30