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

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R6137 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

10010513-10068595 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 10019275 bp (GRCm39)

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
2310057M21Rik	G	T	7: 130,959,342 (GRCm39)	H165Q	probably damaging	Het
Akap13	T	A	7: 75,327,164 (GRCm39)	F721Y	probably damaging	Het
Akap6	A	T	12: 53,187,137 (GRCm39)	D1517V	probably damaging	Het
Amigo3	T	A	9: 107,930,927 (GRCm39)	S117T	probably damaging	Het
Cacnb1	A	C	11: 97,896,608 (GRCm39)	V351G	probably damaging	Het
Casp9	T	A	4: 141,532,660 (GRCm39)		probably null	Het
Ccdc51	C	T	9: 108,918,483 (GRCm39)	T24I	probably benign	Het
Cdh23	T	A	10: 60,270,291 (GRCm39)	Y618F	probably damaging	Het
Chd1	T	A	17: 15,978,950 (GRCm39)	W1271R	probably damaging	Het
Dars1	T	C	1: 128,296,176 (GRCm39)	T386A	probably benign	Het
Dchs1	T	A	7: 105,414,313 (GRCm39)	D834V	probably damaging	Het
Dgkd	T	A	1: 87,864,103 (GRCm39)	V933E	possibly damaging	Het
Dnah17	A	G	11: 117,916,480 (GRCm39)	F4203S	probably damaging	Het
Fancm	T	C	12: 65,177,156 (GRCm39)	L2000P	probably damaging	Het
Fbxo11	A	T	17: 88,316,097 (GRCm39)	H444Q	probably benign	Het
Fbxw14	T	A	9: 109,105,290 (GRCm39)	T292S	probably damaging	Het
Fer1l6	T	C	15: 58,431,055 (GRCm39)	S237P	probably damaging	Het
Frem3	T	C	8: 81,341,676 (GRCm39)	I1323T	probably benign	Het
Grin2a	A	G	16: 9,471,313 (GRCm39)	F652L	probably benign	Het
Grin2b	T	A	6: 135,900,456 (GRCm39)	M142L	possibly damaging	Het
Helz	A	G	11: 107,509,886 (GRCm39)	Q503R	possibly damaging	Het
Ighv5-17	A	G	12: 113,822,915 (GRCm39)	Y69H	probably benign	Het
Il17ra	A	G	6: 120,452,543 (GRCm39)	N242S	probably benign	Het
Immp1l	G	C	2: 105,794,553 (GRCm39)	G117A	probably damaging	Het
Itm2c	T	C	1: 85,822,413 (GRCm39)	V10A	probably benign	Het
Kif1b	T	C	4: 149,322,883 (GRCm39)	K679E	possibly damaging	Het
Kng1	T	C	16: 22,893,395 (GRCm39)	V256A	possibly damaging	Het
Lamc2	T	G	1: 153,041,899 (GRCm39)	R78S	possibly damaging	Het
Loxl4	A	G	19: 42,587,232 (GRCm39)	F621S	probably damaging	Het
Lpl	T	A	8: 69,345,399 (GRCm39)	D134E	probably damaging	Het
Lypd3	T	C	7: 24,339,919 (GRCm39)	Y329H	probably benign	Het
Mettl13	T	C	1: 162,363,455 (GRCm39)	D225G	probably benign	Het
Myo7b	A	G	18: 32,133,027 (GRCm39)	F441L	probably damaging	Het
Nnt	T	A	13: 119,472,864 (GRCm39)	M699L	possibly damaging	Het
Nr1h3	A	T	2: 91,022,196 (GRCm39)	M144K	probably damaging	Het
Or2t46	A	T	11: 58,471,894 (GRCm39)	M75L	probably benign	Het
Or5al6	A	G	2: 85,976,313 (GRCm39)	V255A	probably benign	Het
Or6z6	T	C	7: 6,491,844 (GRCm39)	T3A	probably benign	Het
Pappa2	A	T	1: 158,699,113 (GRCm39)	Y667N	probably damaging	Het
Prps1l3	A	G	12: 57,285,674 (GRCm39)	I155V	probably benign	Het
Ptgs2	T	A	1: 149,976,744 (GRCm39)	N24K	probably benign	Het
Ralgds	A	T	2: 28,437,600 (GRCm39)	M514L	probably damaging	Het
Rbm47	G	C	5: 66,183,626 (GRCm39)	R326G	probably damaging	Het
Sacm1l	T	A	9: 123,398,070 (GRCm39)	V254D	probably damaging	Het
Selenot	A	T	3: 58,492,705 (GRCm39)	Q64L	probably damaging	Het
Sgsm2	G	A	11: 74,741,677 (GRCm39)	R1037W	probably damaging	Het
Slc22a12	A	G	19: 6,592,754 (GRCm39)	V10A	probably benign	Het
Spem2	G	T	11: 69,707,522 (GRCm39)	S481*	probably null	Het
Styk1	C	T	6: 131,287,979 (GRCm39)	G128D	probably damaging	Het
Tex54	A	T	19: 8,718,148 (GRCm39)	D6V	probably damaging	Het
Tmc6	A	T	11: 117,667,154 (GRCm39)	L148Q	probably damaging	Het
Tmem138	A	C	19: 10,552,199 (GRCm39)		probably null	Het
Tnpo3	A	G	6: 29,555,267 (GRCm39)	V772A	probably benign	Het
Topaz1	T	C	9: 122,626,821 (GRCm39)	F1483S	possibly damaging	Het
Tuba4a	C	A	1: 75,192,699 (GRCm39)	C305F	probably damaging	Het
Ubap1	T	G	4: 41,379,262 (GRCm39)	F159V	possibly damaging	Het
Vmn2r9	A	G	5: 108,996,882 (GRCm39)	I129T	probably benign	Het
Wwc2	A	T	8: 48,309,298 (GRCm39)	M828K	unknown	Het
Zfp236	A	T	18: 82,689,919 (GRCm39)	S187T	possibly damaging	Het

Other mutations in Atf7ip2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01926:Atf7ip2	APN	16	10,059,749 (GRCm39)	missense	probably damaging	0.99
IGL01937:Atf7ip2	APN	16	10,059,401 (GRCm39)	splice site	probably null
IGL02301:Atf7ip2	APN	16	10,028,911 (GRCm39)	missense	probably benign	0.32
R0575:Atf7ip2	UTSW	16	10,055,075 (GRCm39)	missense	probably damaging	1.00
R0671:Atf7ip2	UTSW	16	10,059,743 (GRCm39)	missense	possibly damaging	0.86
R1119:Atf7ip2	UTSW	16	10,058,476 (GRCm39)	missense	possibly damaging	0.83
R1182:Atf7ip2	UTSW	16	10,059,699 (GRCm39)	missense	possibly damaging	0.93
R1302:Atf7ip2	UTSW	16	10,058,472 (GRCm39)	missense	possibly damaging	0.84
R1346:Atf7ip2	UTSW	16	10,052,195 (GRCm39)	missense	probably damaging	1.00
R1349:Atf7ip2	UTSW	16	10,052,195 (GRCm39)	missense	probably damaging	1.00
R1372:Atf7ip2	UTSW	16	10,052,195 (GRCm39)	missense	probably damaging	1.00
R1672:Atf7ip2	UTSW	16	10,027,005 (GRCm39)	missense	probably damaging	1.00
R1696:Atf7ip2	UTSW	16	10,052,195 (GRCm39)	missense	probably damaging	1.00
R1897:Atf7ip2	UTSW	16	10,028,948 (GRCm39)	missense	probably damaging	0.97
R1932:Atf7ip2	UTSW	16	10,059,567 (GRCm39)	missense	possibly damaging	0.86
R2143:Atf7ip2	UTSW	16	10,058,509 (GRCm39)	missense	probably null	0.68
R4612:Atf7ip2	UTSW	16	10,059,427 (GRCm39)	missense	probably benign	0.33
R4732:Atf7ip2	UTSW	16	10,059,750 (GRCm39)	missense	possibly damaging	0.92
R4733:Atf7ip2	UTSW	16	10,059,750 (GRCm39)	missense	possibly damaging	0.92
R4934:Atf7ip2	UTSW	16	10,059,447 (GRCm39)	missense	possibly damaging	0.72
R6432:Atf7ip2	UTSW	16	10,022,534 (GRCm39)	missense	probably damaging	1.00
R7298:Atf7ip2	UTSW	16	10,027,032 (GRCm39)	missense	possibly damaging	0.82
R7517:Atf7ip2	UTSW	16	10,059,399 (GRCm39)	splice site	probably null
R7744:Atf7ip2	UTSW	16	10,059,522 (GRCm39)	missense	possibly damaging	0.93
R8124:Atf7ip2	UTSW	16	10,026,999 (GRCm39)	missense	possibly damaging	0.67
R8245:Atf7ip2	UTSW	16	10,019,262 (GRCm39)	missense	possibly damaging	0.93
R8527:Atf7ip2	UTSW	16	10,055,129 (GRCm39)	intron	probably benign
R9329:Atf7ip2	UTSW	16	10,059,738 (GRCm39)	missense	possibly damaging	0.51
R9566:Atf7ip2	UTSW	16	10,044,893 (GRCm39)	missense	probably benign	0.01
R9670:Atf7ip2	UTSW	16	10,058,512 (GRCm39)	missense	probably benign	0.00
R9779:Atf7ip2	UTSW	16	10,055,044 (GRCm39)	missense	possibly damaging	0.85
U24488:Atf7ip2	UTSW	16	10,022,537 (GRCm39)	missense	probably damaging	0.96
X0062:Atf7ip2	UTSW	16	10,027,138 (GRCm39)	splice site	probably null
Z1177:Atf7ip2	UTSW	16	10,059,504 (GRCm39)	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