Mutagenetix > Incidental Mutation

Incidental Mutation 'R5997:Ahdc1'

480606

Institutional Source

Beutler Lab

Gene Symbol

Ahdc1

Ensembl Gene

ENSMUSG00000037692

Gene Name

AT hook, DNA binding motif, containing 1

Synonyms

D030015G18Rik

MMRRC Submission

044176-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.214) question?

Stock #

R5997 (G1)

Quality Score

207.009

Status

Validated

Chromosome

Chromosomal Location

132738797-132805421 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 132791206 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 816 (G816C)

Ref Sequence

ENSEMBL: ENSMUSP00000101536 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044521] [ENSMUST00000105914] [ENSMUST00000105915] [ENSMUST00000105916]

AlphaFold

Q6PAL7

Predicted Effect

probably benign
Transcript: ENSMUST00000044521
AA Change: G816C

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000047113
Gene: ENSMUSG00000037692
AA Change: G816C

Domain	Start	End	E-Value	Type
low complexity region	25	48	N/A	INTRINSIC
low complexity region	61	75	N/A	INTRINSIC
low complexity region	207	234	N/A	INTRINSIC
low complexity region	259	279	N/A	INTRINSIC
low complexity region	284	303	N/A	INTRINSIC
low complexity region	327	341	N/A	INTRINSIC
low complexity region	369	379	N/A	INTRINSIC
AT_hook	395	407	2.04e2	SMART
low complexity region	418	446	N/A	INTRINSIC
low complexity region	491	508	N/A	INTRINSIC
AT_hook	541	553	5.47e-1	SMART
low complexity region	661	685	N/A	INTRINSIC
low complexity region	696	714	N/A	INTRINSIC
low complexity region	770	785	N/A	INTRINSIC
low complexity region	805	820	N/A	INTRINSIC
low complexity region	836	857	N/A	INTRINSIC
low complexity region	963	974	N/A	INTRINSIC
low complexity region	1003	1028	N/A	INTRINSIC
low complexity region	1072	1084	N/A	INTRINSIC
low complexity region	1153	1168	N/A	INTRINSIC
low complexity region	1180	1197	N/A	INTRINSIC
low complexity region	1243	1251	N/A	INTRINSIC
low complexity region	1257	1271	N/A	INTRINSIC
low complexity region	1422	1436	N/A	INTRINSIC
low complexity region	1513	1528	N/A	INTRINSIC
low complexity region	1566	1579	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105914
AA Change: G816C

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000101534
Gene: ENSMUSG00000037692
AA Change: G816C

Domain	Start	End	E-Value	Type
low complexity region	25	48	N/A	INTRINSIC
low complexity region	61	75	N/A	INTRINSIC
low complexity region	207	234	N/A	INTRINSIC
low complexity region	259	279	N/A	INTRINSIC
low complexity region	284	303	N/A	INTRINSIC
low complexity region	327	341	N/A	INTRINSIC
low complexity region	369	379	N/A	INTRINSIC
AT_hook	395	407	2.04e2	SMART
low complexity region	418	446	N/A	INTRINSIC
low complexity region	491	508	N/A	INTRINSIC
AT_hook	541	553	5.47e-1	SMART
Pfam:DUF4683	559	639	6.4e-15	PFAM
low complexity region	661	685	N/A	INTRINSIC
low complexity region	696	714	N/A	INTRINSIC
low complexity region	770	785	N/A	INTRINSIC
low complexity region	805	820	N/A	INTRINSIC
low complexity region	836	857	N/A	INTRINSIC
low complexity region	963	974	N/A	INTRINSIC
low complexity region	1003	1028	N/A	INTRINSIC
low complexity region	1072	1084	N/A	INTRINSIC
low complexity region	1153	1168	N/A	INTRINSIC
low complexity region	1180	1197	N/A	INTRINSIC
low complexity region	1243	1251	N/A	INTRINSIC
low complexity region	1257	1271	N/A	INTRINSIC
low complexity region	1422	1436	N/A	INTRINSIC
low complexity region	1513	1528	N/A	INTRINSIC
low complexity region	1566	1579	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105915
AA Change: G816C

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000101535
Gene: ENSMUSG00000037692
AA Change: G816C

Domain	Start	End	E-Value	Type
low complexity region	25	48	N/A	INTRINSIC
low complexity region	61	75	N/A	INTRINSIC
low complexity region	207	234	N/A	INTRINSIC
low complexity region	259	279	N/A	INTRINSIC
low complexity region	284	303	N/A	INTRINSIC
low complexity region	327	341	N/A	INTRINSIC
low complexity region	369	379	N/A	INTRINSIC
AT_hook	395	407	2.04e2	SMART
low complexity region	418	446	N/A	INTRINSIC
low complexity region	491	508	N/A	INTRINSIC
AT_hook	541	553	5.47e-1	SMART
low complexity region	661	685	N/A	INTRINSIC
low complexity region	696	714	N/A	INTRINSIC
low complexity region	770	785	N/A	INTRINSIC
low complexity region	805	820	N/A	INTRINSIC
low complexity region	836	857	N/A	INTRINSIC
low complexity region	963	974	N/A	INTRINSIC
low complexity region	1003	1028	N/A	INTRINSIC
low complexity region	1072	1084	N/A	INTRINSIC
low complexity region	1153	1168	N/A	INTRINSIC
low complexity region	1180	1197	N/A	INTRINSIC
low complexity region	1243	1251	N/A	INTRINSIC
low complexity region	1257	1271	N/A	INTRINSIC
low complexity region	1422	1436	N/A	INTRINSIC
low complexity region	1513	1528	N/A	INTRINSIC
low complexity region	1566	1579	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105916
AA Change: G816C

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000101536
Gene: ENSMUSG00000037692
AA Change: G816C

Domain	Start	End	E-Value	Type
low complexity region	25	48	N/A	INTRINSIC
low complexity region	61	75	N/A	INTRINSIC
low complexity region	207	234	N/A	INTRINSIC
low complexity region	259	279	N/A	INTRINSIC
low complexity region	284	303	N/A	INTRINSIC
low complexity region	327	341	N/A	INTRINSIC
low complexity region	369	379	N/A	INTRINSIC
AT_hook	395	407	2.04e2	SMART
low complexity region	418	446	N/A	INTRINSIC
low complexity region	491	508	N/A	INTRINSIC
AT_hook	541	553	5.47e-1	SMART
low complexity region	661	685	N/A	INTRINSIC
low complexity region	696	714	N/A	INTRINSIC
low complexity region	770	785	N/A	INTRINSIC
low complexity region	805	820	N/A	INTRINSIC
low complexity region	836	857	N/A	INTRINSIC
low complexity region	963	974	N/A	INTRINSIC
low complexity region	1003	1028	N/A	INTRINSIC
low complexity region	1072	1084	N/A	INTRINSIC
low complexity region	1153	1168	N/A	INTRINSIC
low complexity region	1180	1197	N/A	INTRINSIC
low complexity region	1243	1251	N/A	INTRINSIC
low complexity region	1257	1271	N/A	INTRINSIC
low complexity region	1422	1436	N/A	INTRINSIC
low complexity region	1513	1528	N/A	INTRINSIC
low complexity region	1566	1579	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135548

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142524

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148518

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156677

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154482

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154646

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 97.1%
20x: 90.5%

Validation Efficiency

100% (78/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing two AT-hooks, which likely function in DNA binding. Mutations in this gene were found in individuals with Xia-Gibbs syndrome. [provided by RefSeq, Jun 2014]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	A	T	5: 124,227,878 (GRCm39)	V121E	possibly damaging	Het
Acsbg3	A	T	17: 57,183,373 (GRCm39)	D38V	probably benign	Het
Adamts20	T	A	15: 94,277,628 (GRCm39)	Y278F	probably damaging	Het
Adcy7	A	T	8: 89,053,020 (GRCm39)	D972V	probably benign	Het
Adgrf3	C	A	5: 30,403,360 (GRCm39)		probably null	Het
Aifm3	A	G	16: 17,319,994 (GRCm39)	K283E	probably benign	Het
Akap6	T	C	12: 52,984,016 (GRCm39)		probably null	Het
Ank1	T	C	8: 23,589,678 (GRCm39)	L593P	probably damaging	Het
Apol11b	T	A	15: 77,519,697 (GRCm39)	T128S	probably benign	Het
C1qtnf7	C	A	5: 43,773,427 (GRCm39)	T235K	probably damaging	Het
Camk2a	A	T	18: 61,111,029 (GRCm39)	I73F	probably damaging	Het
Ccdc121rt3	C	T	5: 112,502,874 (GRCm39)	V277M	possibly damaging	Het
Cd109	G	T	9: 78,612,344 (GRCm39)	V1244F	possibly damaging	Het
Cep164	A	G	9: 45,680,761 (GRCm39)	L1240S	possibly damaging	Het
Cnga1	T	A	5: 72,761,918 (GRCm39)	D532V	probably damaging	Het
Cyp4a14	A	T	4: 115,353,297 (GRCm39)	L5*	probably null	Het
Cyp4a30b	A	T	4: 115,316,588 (GRCm39)	K405*	probably null	Het
Dchs1	T	C	7: 105,403,302 (GRCm39)	D3080G	probably benign	Het
Ddx1	T	C	12: 13,287,800 (GRCm39)	D168G	probably damaging	Het
Dhx57	T	G	17: 80,553,235 (GRCm39)	K1231Q	probably damaging	Het
Dnah14	A	G	1: 181,597,670 (GRCm39)	N3640D	probably benign	Het
Dock4	T	A	12: 40,805,833 (GRCm39)	L935Q	probably damaging	Het
Dus2	A	T	8: 106,772,698 (GRCm39)	R269S	probably benign	Het
E230025N22Rik	G	A	18: 36,822,161 (GRCm39)	R201C	possibly damaging	Het
Erbb3	G	A	10: 128,419,054 (GRCm39)	T269M	probably damaging	Het
Fbxo43	T	C	15: 36,162,239 (GRCm39)	R323G	probably damaging	Het
Fktn	A	G	4: 53,735,061 (GRCm39)	H233R	probably benign	Het
Ftsj3	A	T	11: 106,143,077 (GRCm39)	D412E	probably damaging	Het
Fzd7	A	T	1: 59,523,703 (GRCm39)	M529L	probably benign	Het
Fzr1	T	A	10: 81,206,660 (GRCm39)		probably null	Het
Ganc	T	G	2: 120,261,086 (GRCm39)	V257G	possibly damaging	Het
Garin1a	T	A	6: 29,290,423 (GRCm39)	L267*	probably null	Het
Gm4131	T	C	14: 62,702,207 (GRCm39)	K254E	probably damaging	Het
Gm7347	G	T	5: 26,262,247 (GRCm39)	Y91*	probably null	Het
Gm9857	G	A	3: 108,847,481 (GRCm39)		probably benign	Het
Grpel1	T	C	5: 36,622,592 (GRCm39)	S19P	probably benign	Het
Gtf3c4	T	C	2: 28,723,723 (GRCm39)	K670E	possibly damaging	Het
H2bc7	G	A	13: 23,758,277 (GRCm39)		probably benign	Het
Hmcn1	G	T	1: 150,579,924 (GRCm39)	Q1938K	possibly damaging	Het
Hnrnpk	T	C	13: 58,546,971 (GRCm39)	D71G	probably damaging	Het
Hspa4l	G	A	3: 40,722,411 (GRCm39)	R311H	probably damaging	Het
Igkv3-5	T	A	6: 70,640,688 (GRCm39)	F56L	probably benign	Het
Igkv6-20	T	A	6: 70,312,898 (GRCm39)	T92S	possibly damaging	Het
Krt8	C	T	15: 101,909,029 (GRCm39)	V200I	possibly damaging	Het
Lamb2	A	T	9: 108,357,587 (GRCm39)	T66S	possibly damaging	Het
Lamp3	A	G	16: 19,519,778 (GRCm39)	L135S	probably benign	Het
Lrguk	A	G	6: 34,106,078 (GRCm39)	Y701C	probably damaging	Het
Mcc	G	T	18: 44,582,388 (GRCm39)	L588M	probably damaging	Het
Mcidas	T	A	13: 113,135,120 (GRCm39)	L234Q	probably damaging	Het
Mtmr14	T	A	6: 113,257,575 (GRCm39)	L208Q	probably damaging	Het
Myof	A	G	19: 37,893,747 (GRCm39)	F1139L	possibly damaging	Het
Nlrp14	C	A	7: 106,781,703 (GRCm39)	T300K	probably benign	Het
Or2d36	A	T	7: 106,746,535 (GRCm39)	E4V	possibly damaging	Het
Or2m13	T	A	16: 19,226,694 (GRCm39)	H24L	probably benign	Het
Or5b118	A	G	19: 13,448,870 (GRCm39)	I179V	probably benign	Het
Or8b41	A	T	9: 38,055,097 (GRCm39)	Y217F	probably damaging	Het
Orc2	A	G	1: 58,511,547 (GRCm39)	I354T	probably damaging	Het
Pard3b	G	T	1: 62,115,568 (GRCm39)	S140I	probably damaging	Het
Pcgf5	A	G	19: 36,412,003 (GRCm39)	D49G	probably benign	Het
Pcsk6	T	C	7: 65,609,041 (GRCm39)	F388S	probably damaging	Het
Prokr2	A	C	2: 132,223,362 (GRCm39)	I60S	probably damaging	Het
Rab33b	A	G	3: 51,391,900 (GRCm39)	T50A	possibly damaging	Het
Rbms3	T	C	9: 116,548,457 (GRCm39)	D61G	probably damaging	Het
Rhcg	T	A	7: 79,250,262 (GRCm39)	K274*	probably null	Het
Rnf112	C	T	11: 61,341,848 (GRCm39)	V319M	possibly damaging	Het
Rnf44	A	T	13: 54,830,613 (GRCm39)	S265T	possibly damaging	Het
Sf3a3	A	G	4: 124,615,851 (GRCm39)	D168G	probably damaging	Het
Sik2	A	G	9: 50,806,642 (GRCm39)		probably null	Het
Slco1a5	T	A	6: 142,198,839 (GRCm39)	L275F	probably benign	Het
Smtnl1	T	C	2: 84,645,722 (GRCm39)	H383R	probably damaging	Het
Spns3	T	G	11: 72,429,904 (GRCm39)	T175P	probably damaging	Het
Togaram1	A	G	12: 65,042,312 (GRCm39)	T1174A	probably benign	Het
Tradd	C	T	8: 105,987,277 (GRCm39)	E10K	possibly damaging	Het
Ttc7b	A	T	12: 100,339,819 (GRCm39)	Y579N	probably damaging	Het
Uncx	G	A	5: 139,533,344 (GRCm39)	G470R	probably damaging	Het
Vav3	T	A	3: 109,408,777 (GRCm39)	M177K	probably damaging	Het
Wfs1	A	T	5: 37,125,094 (GRCm39)	I599N	probably damaging	Het
Zfp454	G	A	11: 50,764,449 (GRCm39)	H217Y	probably damaging	Het

Other mutations in Ahdc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00946:Ahdc1	APN	4	132,790,373 (GRCm39)	missense	probably benign	0.33
IGL02293:Ahdc1	APN	4	132,792,929 (GRCm39)	missense	possibly damaging	0.85
IGL02338:Ahdc1	APN	4	132,789,860 (GRCm39)	missense	possibly damaging	0.73
IGL02828:Ahdc1	APN	4	132,790,232 (GRCm39)	missense	possibly damaging	0.96
IGL02859:Ahdc1	APN	4	132,790,004 (GRCm39)	missense	probably damaging	0.99
IGL02859:Ahdc1	APN	4	132,790,003 (GRCm39)	missense	possibly damaging	0.53
IGL02901:Ahdc1	APN	4	132,792,245 (GRCm39)	missense	possibly damaging	0.85
IGL03323:Ahdc1	APN	4	132,792,739 (GRCm39)	missense	probably benign
FR4304:Ahdc1	UTSW	4	132,790,070 (GRCm39)	small insertion	probably benign
FR4548:Ahdc1	UTSW	4	132,790,071 (GRCm39)	small insertion	probably benign
FR4548:Ahdc1	UTSW	4	132,790,068 (GRCm39)	small insertion	probably benign
FR4737:Ahdc1	UTSW	4	132,790,070 (GRCm39)	small insertion	probably benign
R0325:Ahdc1	UTSW	4	132,790,030 (GRCm39)	missense	unknown
R0550:Ahdc1	UTSW	4	132,790,348 (GRCm39)	missense	probably benign	0.33
R0681:Ahdc1	UTSW	4	132,792,827 (GRCm39)	missense	possibly damaging	0.53
R0683:Ahdc1	UTSW	4	132,792,827 (GRCm39)	missense	possibly damaging	0.53
R0731:Ahdc1	UTSW	4	132,790,262 (GRCm39)	missense	possibly damaging	0.86
R0751:Ahdc1	UTSW	4	132,792,707 (GRCm39)	missense	probably benign	0.02
R1137:Ahdc1	UTSW	4	132,789,424 (GRCm39)	missense	possibly damaging	0.68
R1184:Ahdc1	UTSW	4	132,792,707 (GRCm39)	missense	probably benign	0.02
R1331:Ahdc1	UTSW	4	132,791,002 (GRCm39)	missense	probably benign	0.18
R1599:Ahdc1	UTSW	4	132,792,247 (GRCm39)	missense	possibly damaging	0.91
R2202:Ahdc1	UTSW	4	132,793,220 (GRCm39)	missense	possibly damaging	0.72
R2205:Ahdc1	UTSW	4	132,793,220 (GRCm39)	missense	possibly damaging	0.72
R2261:Ahdc1	UTSW	4	132,790,474 (GRCm39)	missense	unknown
R2262:Ahdc1	UTSW	4	132,790,474 (GRCm39)	missense	unknown
R3683:Ahdc1	UTSW	4	132,793,013 (GRCm39)	missense	possibly damaging	0.96
R3684:Ahdc1	UTSW	4	132,793,013 (GRCm39)	missense	possibly damaging	0.96
R3685:Ahdc1	UTSW	4	132,793,013 (GRCm39)	missense	possibly damaging	0.96
R3713:Ahdc1	UTSW	4	132,793,297 (GRCm39)	missense	possibly damaging	0.85
R4027:Ahdc1	UTSW	4	132,791,476 (GRCm39)	missense	possibly damaging	0.73
R4807:Ahdc1	UTSW	4	132,791,624 (GRCm39)	missense	possibly damaging	0.86
R4987:Ahdc1	UTSW	4	132,791,631 (GRCm39)	missense	possibly damaging	0.53
R5126:Ahdc1	UTSW	4	132,790,833 (GRCm39)	missense	probably benign	0.18
R5276:Ahdc1	UTSW	4	132,790,109 (GRCm39)	missense	possibly damaging	0.93
R5680:Ahdc1	UTSW	4	132,792,907 (GRCm39)	missense	probably benign
R6050:Ahdc1	UTSW	4	132,793,202 (GRCm39)	missense	possibly damaging	0.85
R6271:Ahdc1	UTSW	4	132,792,035 (GRCm39)	missense	possibly damaging	0.73
R6410:Ahdc1	UTSW	4	132,790,210 (GRCm39)	missense	probably damaging	0.97
R6519:Ahdc1	UTSW	4	132,792,079 (GRCm39)	missense	possibly damaging	0.86
R6970:Ahdc1	UTSW	4	132,789,656 (GRCm39)	missense	possibly damaging	0.96
R7199:Ahdc1	UTSW	4	132,791,935 (GRCm39)	missense	probably benign	0.33
R7202:Ahdc1	UTSW	4	132,789,198 (GRCm39)	nonsense	probably null
R7576:Ahdc1	UTSW	4	132,792,313 (GRCm39)	missense	possibly damaging	0.91
R7614:Ahdc1	UTSW	4	132,790,825 (GRCm39)	missense	probably benign	0.18
R7794:Ahdc1	UTSW	4	132,791,289 (GRCm39)	missense	possibly damaging	0.70
R7875:Ahdc1	UTSW	4	132,791,161 (GRCm39)	missense	possibly damaging	0.53
R8016:Ahdc1	UTSW	4	132,790,226 (GRCm39)	missense	possibly damaging	0.96
R8295:Ahdc1	UTSW	4	132,788,762 (GRCm39)	start codon destroyed	probably null	0.53
R8332:Ahdc1	UTSW	4	132,791,282 (GRCm39)	missense	possibly damaging	0.85
R8719:Ahdc1	UTSW	4	132,791,533 (GRCm39)	missense	possibly damaging	0.86
R8725:Ahdc1	UTSW	4	132,792,743 (GRCm39)	missense	possibly damaging	0.86
R8862:Ahdc1	UTSW	4	132,791,129 (GRCm39)	missense	possibly damaging	0.53
R9158:Ahdc1	UTSW	4	132,792,505 (GRCm39)	missense	possibly damaging	0.53
R9179:Ahdc1	UTSW	4	132,788,929 (GRCm39)	missense	possibly damaging	0.93
R9362:Ahdc1	UTSW	4	132,790,348 (GRCm39)	missense	probably benign	0.33
R9428:Ahdc1	UTSW	4	132,791,773 (GRCm39)	missense	possibly damaging	0.93
RF017:Ahdc1	UTSW	4	132,790,062 (GRCm39)	small insertion	probably benign
RF020:Ahdc1	UTSW	4	132,791,588 (GRCm39)	missense	possibly damaging	0.96
T0722:Ahdc1	UTSW	4	132,790,065 (GRCm39)	small insertion	probably benign
T0975:Ahdc1	UTSW	4	132,790,065 (GRCm39)	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- GAATGGGACTCTGTTCCCAG -3'
(R):5'- ATCCCATAGCTTGTTGCCCG -3'

Sequencing Primer
(F):5'- TCTGTTCCCAGAGCAGGTG -3'
(R):5'- CCTGGTGGAAAGGTCTGAC -3'

Posted On

2017-06-26