Mutagenetix > Incidental Mutation

Incidental Mutation 'R0731:Ahdc1'

67542

Institutional Source

Beutler Lab

Gene Symbol

Ahdc1

Ensembl Gene

ENSMUSG00000037692

Gene Name

AT hook, DNA binding motif, containing 1

Synonyms

MMRRC Submission

038912-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.256) question?

Stock #

R0731 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

133011260-133078110 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 133062951 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 501 (V501E)

Ref Sequence

ENSEMBL: ENSMUSP00000101536 (fasta)

Gene Model

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

AlphaFold

Q6PAL7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044521
AA Change: V501E

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000047113
Gene: ENSMUSG00000037692
AA Change: V501E

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

possibly damaging
Transcript: ENSMUST00000105914
AA Change: V501E

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000101534
Gene: ENSMUSG00000037692
AA Change: V501E

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

possibly damaging
Transcript: ENSMUST00000105915
AA Change: V501E

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000101535
Gene: ENSMUSG00000037692
AA Change: V501E

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

possibly damaging
Transcript: ENSMUST00000105916
AA Change: V501E

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000101536
Gene: ENSMUSG00000037692
AA Change: V501E

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: ENSMUST00000154482

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154646

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156677

Meta Mutation Damage Score

0.0605

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.5%

Validation Efficiency

97% (73/75)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430F08Rik	T	C	10: 100,586,203	T66A	probably damaging	Het
4933406M09Rik	A	C	1: 134,389,975	M162L	probably benign	Het
Acsm3	A	T	7: 119,768,024	R27*	probably null	Het
Actg1	A	G	11: 120,346,949	F255S	probably damaging	Het
Alpk2	A	T	18: 65,305,390	D1444E	probably damaging	Het
Btaf1	T	G	19: 36,997,495		probably null	Het
Cacnb2	A	G	2: 14,985,706	H489R	possibly damaging	Het
Ccdc162	C	A	10: 41,579,143	K398N	probably damaging	Het
Cd79b	G	T	11: 106,312,433	S145R	probably damaging	Het
Cdh11	T	A	8: 102,668,019	N264Y	probably damaging	Het
Celsr1	T	C	15: 85,901,597	D2892G	probably benign	Het
Chuk	A	G	19: 44,103,766		probably benign	Het
Clk3	T	C	9: 57,751,126		probably benign	Het
Dcaf8	A	T	1: 172,172,509	D78V	possibly damaging	Het
Dctn1	A	G	6: 83,183,089	T87A	probably damaging	Het
Ddx50	T	C	10: 62,616,249	N732D	unknown	Het
Dnah5	A	T	15: 28,311,143	Y1756F	possibly damaging	Het
Dock3	A	T	9: 106,969,856	V858E	probably damaging	Het
Fer1l4	A	G	2: 156,024,070	F1566S	probably benign	Het
Fpr-rs7	T	C	17: 20,113,854	I125V	probably benign	Het
Fuca2	C	T	10: 13,506,027	P228L	probably benign	Het
Galntl6	A	G	8: 58,535,984	F57L	probably benign	Het
Gigyf2	T	A	1: 87,407,727		probably benign	Het
Gm16505	A	T	13: 3,361,329		noncoding transcript	Het
Gm4781	T	C	10: 100,396,777		noncoding transcript	Het
Gm9956	T	A	10: 56,745,543	Y100*	probably null	Het
Gpr137c	T	A	14: 45,246,349	C178S	probably damaging	Het
Gpr83	A	G	9: 14,868,644	R331G	probably benign	Het
Hlcs	T	A	16: 94,131,852	H851L	probably damaging	Het
Kbtbd6	C	A	14: 79,451,884	Y6*	probably null	Het
Kif23	T	C	9: 61,925,032	R610G	possibly damaging	Het
Kifc3	G	A	8: 95,105,733	T487I	probably damaging	Het
Klra5	A	C	6: 129,908,796	D133E	possibly damaging	Het
Klra6	T	C	6: 130,022,705	E100G	probably damaging	Het
Klre1	T	A	6: 129,585,568		probably benign	Het
Lancl1	C	T	1: 67,009,910		probably null	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Man1b1	A	G	2: 25,338,155	I146V	possibly damaging	Het
Map4k5	T	A	12: 69,874,264		probably benign	Het
Mast3	A	G	8: 70,781,321	S178P	probably damaging	Het
Mau2	A	G	8: 70,023,612		probably null	Het
Mkrn2	A	T	6: 115,614,651	N312Y	probably damaging	Het
Mrvi1	T	C	7: 110,876,900	S615G	probably benign	Het
Myh1	A	G	11: 67,202,533	E150G	probably damaging	Het
Myo7b	T	A	18: 31,961,825		probably null	Het
Nyap1	A	G	5: 137,735,298	V491A	probably damaging	Het
Olfr1284	A	G	2: 111,379,293	M98V	probably damaging	Het
Olfr484	T	C	7: 108,124,734	I176M	probably benign	Het
Olfr518	A	T	7: 108,881,533	N24K	probably damaging	Het
Olfr954	T	C	9: 39,461,532	F34L	probably damaging	Het
Oxsm	A	T	14: 16,240,893	H385Q	probably damaging	Het
Pbld2	T	C	10: 63,056,811	S242P	probably damaging	Het
Pdzd7	T	C	19: 45,029,305	Y675C	probably damaging	Het
Pnkd	T	A	1: 74,351,541	H266Q	probably damaging	Het
Rbfox2	A	G	15: 77,099,279	S141P	probably benign	Het
Rdx	A	G	9: 52,068,218	T214A	probably benign	Het
Ripor2	A	T	13: 24,680,644	E219V	probably damaging	Het
Rufy2	G	A	10: 63,011,844		probably benign	Het
Slf2	T	A	19: 44,975,726		probably benign	Het
Snrnp200	G	T	2: 127,226,145		probably benign	Het
Snx7	T	A	3: 117,829,671		probably benign	Het
Stt3a	T	C	9: 36,735,512	I602V	probably damaging	Het
Tacr3	G	A	3: 134,855,000		probably null	Het
Tcerg1	C	T	18: 42,571,840	T978M	probably damaging	Het
Tcf7l1	G	T	6: 72,788,269	P126Q	possibly damaging	Het
Trank1	A	G	9: 111,365,488	D860G	probably damaging	Het
Try4	T	C	6: 41,304,367	L81P	probably benign	Het
Ucp1	T	C	8: 83,297,847		probably benign	Het
Ugt2b38	G	A	5: 87,420,452	A328V	probably damaging	Het
Wfikkn1	T	A	17: 25,878,017	R444S	probably damaging	Het
Zfc3h1	A	G	10: 115,410,632	T875A	probably benign	Het
Zfp11	A	G	5: 129,657,264	S378P	probably damaging	Het
Zfp984	T	A	4: 147,756,232	N54I	probably damaging	Het

Other mutations in Ahdc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00946:Ahdc1	APN	4	133063062	missense	probably benign	0.33
IGL02293:Ahdc1	APN	4	133065618	missense	possibly damaging	0.85
IGL02338:Ahdc1	APN	4	133062549	missense	possibly damaging	0.73
IGL02828:Ahdc1	APN	4	133062921	missense	possibly damaging	0.96
IGL02859:Ahdc1	APN	4	133062692	missense	possibly damaging	0.53
IGL02859:Ahdc1	APN	4	133062693	missense	probably damaging	0.99
IGL02901:Ahdc1	APN	4	133064934	missense	possibly damaging	0.85
IGL03323:Ahdc1	APN	4	133065428	missense	probably benign
FR4304:Ahdc1	UTSW	4	133062759	small insertion	probably benign
FR4548:Ahdc1	UTSW	4	133062757	small insertion	probably benign
FR4548:Ahdc1	UTSW	4	133062760	small insertion	probably benign
FR4737:Ahdc1	UTSW	4	133062759	small insertion	probably benign
R0325:Ahdc1	UTSW	4	133062719	missense	unknown
R0550:Ahdc1	UTSW	4	133063037	missense	probably benign	0.33
R0681:Ahdc1	UTSW	4	133065516	missense	possibly damaging	0.53
R0683:Ahdc1	UTSW	4	133065516	missense	possibly damaging	0.53
R0751:Ahdc1	UTSW	4	133065396	missense	probably benign	0.02
R1137:Ahdc1	UTSW	4	133062113	missense	possibly damaging	0.68
R1184:Ahdc1	UTSW	4	133065396	missense	probably benign	0.02
R1331:Ahdc1	UTSW	4	133063691	missense	probably benign	0.18
R1599:Ahdc1	UTSW	4	133064936	missense	possibly damaging	0.91
R2202:Ahdc1	UTSW	4	133065909	missense	possibly damaging	0.72
R2205:Ahdc1	UTSW	4	133065909	missense	possibly damaging	0.72
R2261:Ahdc1	UTSW	4	133063163	missense	unknown
R2262:Ahdc1	UTSW	4	133063163	missense	unknown
R3683:Ahdc1	UTSW	4	133065702	missense	possibly damaging	0.96
R3684:Ahdc1	UTSW	4	133065702	missense	possibly damaging	0.96
R3685:Ahdc1	UTSW	4	133065702	missense	possibly damaging	0.96
R3713:Ahdc1	UTSW	4	133065986	missense	possibly damaging	0.85
R4027:Ahdc1	UTSW	4	133064165	missense	possibly damaging	0.73
R4807:Ahdc1	UTSW	4	133064313	missense	possibly damaging	0.86
R4987:Ahdc1	UTSW	4	133064320	missense	possibly damaging	0.53
R5126:Ahdc1	UTSW	4	133063522	missense	probably benign	0.18
R5276:Ahdc1	UTSW	4	133062798	missense	possibly damaging	0.93
R5680:Ahdc1	UTSW	4	133065596	missense	probably benign
R5997:Ahdc1	UTSW	4	133063895	missense	probably benign	0.05
R6050:Ahdc1	UTSW	4	133065891	missense	possibly damaging	0.85
R6271:Ahdc1	UTSW	4	133064724	missense	possibly damaging	0.73
R6410:Ahdc1	UTSW	4	133062899	missense	probably damaging	0.97
R6519:Ahdc1	UTSW	4	133064768	missense	possibly damaging	0.86
R6970:Ahdc1	UTSW	4	133062345	missense	possibly damaging	0.96
R7199:Ahdc1	UTSW	4	133064624	missense	probably benign	0.33
R7202:Ahdc1	UTSW	4	133061887	nonsense	probably null
R7576:Ahdc1	UTSW	4	133065002	missense	possibly damaging	0.91
R7614:Ahdc1	UTSW	4	133063514	missense	probably benign	0.18
R7794:Ahdc1	UTSW	4	133063978	missense	possibly damaging	0.70
R7875:Ahdc1	UTSW	4	133063850	missense	possibly damaging	0.53
R8016:Ahdc1	UTSW	4	133062915	missense	possibly damaging	0.96
R8295:Ahdc1	UTSW	4	133061451	start codon destroyed	probably null	0.53
R8332:Ahdc1	UTSW	4	133063971	missense	possibly damaging	0.85
R8719:Ahdc1	UTSW	4	133064222	missense	possibly damaging	0.86
R8725:Ahdc1	UTSW	4	133065432	missense	possibly damaging	0.86
R8862:Ahdc1	UTSW	4	133063818	missense	possibly damaging	0.53
R9158:Ahdc1	UTSW	4	133065194	missense	possibly damaging	0.53
R9179:Ahdc1	UTSW	4	133061618	missense	possibly damaging	0.93
R9362:Ahdc1	UTSW	4	133063037	missense	probably benign	0.33
R9428:Ahdc1	UTSW	4	133064462	missense	possibly damaging	0.93
RF017:Ahdc1	UTSW	4	133062751	small insertion	probably benign
RF020:Ahdc1	UTSW	4	133064277	missense	possibly damaging	0.96
T0722:Ahdc1	UTSW	4	133062754	small insertion	probably benign
T0975:Ahdc1	UTSW	4	133062754	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- AGTCTTCTCAAACCCCGATGGTCC -3'
(R):5'- ATTGGCGTCTGCTGCATACGATGG -3'

Sequencing Primer
(F):5'- GGTCCCCACCCGCAAAG -3'
(R):5'- TGTCACAGTAGCAGCCTCAG -3'

Posted On

2013-09-03