Mutagenetix > Incidental Mutations

Incidental Mutation 'R3713:Ahdc1'

259722

Institutional Source

Beutler Lab

Gene Symbol

Ahdc1

Ensembl Gene

ENSMUSG00000037692

Gene Name

AT hook, DNA binding motif, containing 1

Synonyms

MMRRC Submission

040706-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.230) question?

Stock #

R3713 (G1)

Quality Score

217

Status

Validated

Chromosome

Chromosomal Location

133011260-133078110 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 133065986 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 1513 (A1513T)

Ref Sequence

ENSEMBL: ENSMUSP00000101536 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044521
AA Change: A1513T

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000047113
Gene: ENSMUSG00000037692
AA Change: A1513T

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: A1513T

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000101534
Gene: ENSMUSG00000037692
AA Change: A1513T

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: A1513T

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000101535
Gene: ENSMUSG00000037692
AA Change: A1513T

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: A1513T

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000101536
Gene: ENSMUSG00000037692
AA Change: A1513T

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

Meta Mutation Damage Score

0.0789

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 97.0%
20x: 94.0%

Validation Efficiency

100% (67/67)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310079G19Rik	T	C	16: 88,627,193	M137V	probably benign	Het
Aak1	T	A	6: 86,955,190	I381N	probably benign	Het
Abcd4	C	T	12: 84,611,759	M223I	probably benign	Het
Adgrf2	A	G	17: 42,713,088	V164A	probably damaging	Het
Akap13	T	C	7: 75,586,181	M168T	probably damaging	Het
Aox1	C	T	1: 58,056,215	T196I	probably benign	Het
Aqr	A	G	2: 114,118,669		probably benign	Het
Astn1	A	G	1: 158,667,532	E1042G	possibly damaging	Het
Azi2	A	G	9: 118,047,440	D8G	possibly damaging	Het
Bcam	T	C	7: 19,764,193	T302A	probably benign	Het
Cct6b	A	T	11: 82,760,357	I110N	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Ceacam5	G	A	7: 17,759,338	S762N	possibly damaging	Het
Cecr2	T	C	6: 120,758,260	L819P	probably damaging	Het
Cers3	G	T	7: 66,786,075	A261S	probably benign	Het
Chd2	A	G	7: 73,471,790		probably benign	Het
Col7a1	G	T	9: 108,964,440	G1357*	probably null	Het
Cux1	A	G	5: 136,565,543		probably benign	Het
Cwh43	A	T	5: 73,438,492	I535F	probably damaging	Het
Dexi	A	T	16: 10,542,689	M1K	probably null	Het
Dnah12	T	C	14: 26,812,790	V2081A	probably benign	Het
Efcab5	A	T	11: 77,116,182	L872Q	probably damaging	Het
Enpp7	A	G	11: 118,990,518	Y163C	probably damaging	Het
Fam221a	T	C	6: 49,372,614	Y38H	probably damaging	Het
Foxred1	A	G	9: 35,210,890	M1T	probably null	Het
Fscn3	C	T	6: 28,428,092	T26I	possibly damaging	Het
Galp	A	T	7: 6,213,837	D72V	probably damaging	Het
Gm9843	A	G	16: 76,403,531		noncoding transcript	Het
Grm7	G	T	6: 110,646,348	V161F	probably damaging	Het
Lmbrd1	T	C	1: 24,692,995	Y98H	probably damaging	Het
Lrrc63	T	G	14: 75,107,336	Y437S	probably benign	Het
Macc1	A	G	12: 119,446,841	E448G	probably benign	Het
Madcam1	A	G	10: 79,668,360	H404R	probably benign	Het
Mink1	G	T	11: 70,608,950	R773L	possibly damaging	Het
Mroh2b	A	G	15: 4,943,649	I1045V	probably benign	Het
Mroh3	T	C	1: 136,185,976	T692A	probably benign	Het
Myo15	A	T	11: 60,479,231	E939V	possibly damaging	Het
Naip2	A	G	13: 100,161,902	F542S	probably damaging	Het
Napsa	A	G	7: 44,581,428	Y73C	probably damaging	Het
Ndst4	A	T	3: 125,561,505	H354L	possibly damaging	Het
Neil1	A	T	9: 57,146,970	V22E	probably damaging	Het
Nol4	T	C	18: 23,039,937	I36V	probably damaging	Het
Nprl3	G	A	11: 32,255,464	T111I	probably damaging	Het
Olfr1184	C	A	2: 88,487,443	T237N	probably damaging	Het
Olfr361	A	G	2: 37,085,505	M81T	possibly damaging	Het
Olfr385	A	T	11: 73,588,905	Y278N	probably damaging	Het
Pald1	G	A	10: 61,342,365	T624I	possibly damaging	Het
Pcdhb13	C	T	18: 37,443,733	P388L	probably damaging	Het
Pcdhga6	T	C	18: 37,707,923	V232A	probably damaging	Het
Pde6b	A	G	5: 108,423,062	I388V	probably damaging	Het
Phactr2	C	A	10: 13,388,732		probably benign	Het
Prdx5	T	C	19: 6,908,109	D56G	probably damaging	Het
Ptprh	A	T	7: 4,571,970	I350N	probably damaging	Het
Rangap1	C	A	15: 81,710,460	E389D	probably benign	Het
Reln	A	G	5: 21,904,734	V3126A	probably damaging	Het
Rpl21	G	A	5: 146,835,037	G59S	possibly damaging	Het
Rsph6a	G	A	7: 19,057,550	V215M	probably damaging	Het
Smcp	T	C	3: 92,584,124	K139E	unknown	Het
Stag1	A	G	9: 100,889,618	T699A	probably benign	Het
Tarsl2	G	A	7: 65,688,952		probably null	Het
Tle1	G	T	4: 72,126,422	H459Q	possibly damaging	Het
Ttn	G	A	2: 76,731,019	P27302S	probably damaging	Het
Ttn	C	T	2: 76,741,266	V26428I	probably damaging	Het
Usp53	T	C	3: 122,949,319	E656G	probably benign	Het
Vmn1r218	A	T	13: 23,136,911	N63Y	probably damaging	Het
Vmn1r79	A	G	7: 12,176,212	N40S	possibly damaging	Het
Wdr35	A	G	12: 9,027,648	D1107G	possibly damaging	Het
Zfp101	A	G	17: 33,381,906	M292T	probably benign	Het
Zfp108	T	A	7: 24,261,845	C620*	probably null	Het
Zscan4b	T	C	7: 10,901,891	T170A	probably benign	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
R0731:Ahdc1	UTSW	4	133062951	missense	possibly damaging	0.86
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
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
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'- AGTTGCAAGGGTACAGCCTAC -3'
(R):5'- AAATGTGTCCTCAGGGTGAG -3'

Sequencing Primer
(F):5'- AGCCTACTGGTACCCACC -3'
(R):5'- AGGAAGCCACTCTTAGGGC -3'

Posted On

2015-01-23