Mutagenetix > Incidental Mutation

Incidental Mutation 'R6137:Atf7ip2'

488427

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

044284-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R6137 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

10192712-10251478 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 10201411 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 34 (N34K)

Ref Sequence

ENSEMBL: ENSMUSP00000113480 (fasta)

Gene Model

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

AlphaFold

Q3UL97

Predicted Effect

probably damaging
Transcript: ENSMUST00000044005
AA Change: N34K

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000036731
Gene: ENSMUSG00000039200
AA Change: N34K

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: N34K

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000097766
Gene: ENSMUSG00000039200
AA Change: N34K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000117220
AA Change: N34K

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113573
Gene: ENSMUSG00000039200
AA Change: N34K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000119023
AA Change: N34K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113480
Gene: ENSMUSG00000039200
AA Change: N34K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133674

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230210

Meta Mutation Damage Score

0.1576

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.3%

Validation Efficiency

98% (58/59)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700092M07Rik	A	T	19: 8,740,784	D6V	probably damaging	Het
2310057M21Rik	G	T	7: 131,357,613	H165Q	probably damaging	Het
Akap13	T	A	7: 75,677,416	F721Y	probably damaging	Het
Akap6	A	T	12: 53,140,354	D1517V	probably damaging	Het
Amigo3	T	A	9: 108,053,728	S117T	probably damaging	Het
Cacnb1	A	C	11: 98,005,782	V351G	probably damaging	Het
Casp9	T	A	4: 141,805,349		probably null	Het
Ccdc51	C	T	9: 109,089,415	T24I	probably benign	Het
Cdh23	T	A	10: 60,434,512	Y618F	probably damaging	Het
Chd1	T	A	17: 15,758,688	W1271R	probably damaging	Het
Dars	T	C	1: 128,368,439	T386A	probably benign	Het
Dchs1	T	A	7: 105,765,106	D834V	probably damaging	Het
Dgkd	T	A	1: 87,936,381	V933E	possibly damaging	Het
Dnah17	A	G	11: 118,025,654	F4203S	probably damaging	Het
Fancm	T	C	12: 65,130,382	L2000P	probably damaging	Het
Fbxo11	A	T	17: 88,008,669	H444Q	probably benign	Het
Fbxw14	T	A	9: 109,276,222	T292S	probably damaging	Het
Fer1l6	T	C	15: 58,559,206	S237P	probably damaging	Het
Frem3	T	C	8: 80,615,047	I1323T	probably benign	Het
Grin2a	A	G	16: 9,653,449	F652L	probably benign	Het
Grin2b	T	A	6: 135,923,458	M142L	possibly damaging	Het
Helz	A	G	11: 107,619,060	Q503R	possibly damaging	Het
Ighv5-17	A	G	12: 113,859,295	Y69H	probably benign	Het
Il17ra	A	G	6: 120,475,582	N242S	probably benign	Het
Immp1l	G	C	2: 105,964,208	G117A	probably damaging	Het
Itm2c	T	C	1: 85,894,692	V10A	probably benign	Het
Kif1b	T	C	4: 149,238,426	K679E	possibly damaging	Het
Kng1	T	C	16: 23,074,645	V256A	possibly damaging	Het
Lamc2	T	G	1: 153,166,153	R78S	possibly damaging	Het
Loxl4	A	G	19: 42,598,793	F621S	probably damaging	Het
Lpl	T	A	8: 68,892,747	D134E	probably damaging	Het
Lypd3	T	C	7: 24,640,494	Y329H	probably benign	Het
Mettl13	T	C	1: 162,535,886	D225G	probably benign	Het
Myo7b	A	G	18: 31,999,974	F441L	probably damaging	Het
Nnt	T	A	13: 119,336,328	M699L	possibly damaging	Het
Nr1h3	A	T	2: 91,191,851	M144K	probably damaging	Het
Olfr1040	A	G	2: 86,145,969	V255A	probably benign	Het
Olfr1347	T	C	7: 6,488,845	T3A	probably benign	Het
Olfr325	A	T	11: 58,581,068	M75L	probably benign	Het
Pappa2	A	T	1: 158,871,543	Y667N	probably damaging	Het
Prps1l3	A	G	12: 57,238,888	I155V	probably benign	Het
Ptgs2	T	A	1: 150,100,993	N24K	probably benign	Het
Ralgds	A	T	2: 28,547,588	M514L	probably damaging	Het
Rbm47	G	C	5: 66,026,283	R326G	probably damaging	Het
Sacm1l	T	A	9: 123,569,005	V254D	probably damaging	Het
Selenot	A	T	3: 58,585,284	Q64L	probably damaging	Het
Sgsm2	G	A	11: 74,850,851	R1037W	probably damaging	Het
Slc22a12	A	G	19: 6,542,724	V10A	probably benign	Het
Spem2	G	T	11: 69,816,696	S481*	probably null	Het
Styk1	C	T	6: 131,311,016	G128D	probably damaging	Het
Tmc6	A	T	11: 117,776,328	L148Q	probably damaging	Het
Tmem138	A	C	19: 10,574,835		probably null	Het
Tnpo3	A	G	6: 29,555,268	V772A	probably benign	Het
Topaz1	T	C	9: 122,797,756	F1483S	possibly damaging	Het
Tuba4a	C	A	1: 75,216,055	C305F	probably damaging	Het
Ubap1	T	G	4: 41,379,262	F159V	possibly damaging	Het
Vmn2r9	A	G	5: 108,849,016	I129T	probably benign	Het
Wwc2	A	T	8: 47,856,263	M828K	unknown	Het
Zfp236	A	T	18: 82,671,794	S187T	possibly damaging	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
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
R8124:Atf7ip2	UTSW	16	10209135	missense	possibly damaging	0.67
R8245:Atf7ip2	UTSW	16	10201398	missense	possibly damaging	0.93
R8527:Atf7ip2	UTSW	16	10237265	intron	probably benign
R9329:Atf7ip2	UTSW	16	10241874	missense	possibly damaging	0.51
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'- GATCCTCCTATTGGTACCACTG -3'
(R):5'- GGAGTCAATAGCTGTCCTTGGC -3'

Sequencing Primer
(F):5'- ACCACTGTCTTCATTATAGTATGACC -3'
(R):5'- CAATAGCTGTCCTTGGCTTTGTG -3'

Posted On

2017-10-10