Mutagenetix > Incidental Mutation

Incidental Mutation 'R8332:Ahdc1'

644421

Institutional Source

Beutler Lab

Gene Symbol

Ahdc1

Ensembl Gene

ENSMUSG00000037692

Gene Name

AT hook, DNA binding motif, containing 1

Synonyms

D030015G18Rik

MMRRC Submission

067728-MU

Accession Numbers

Essential gene?

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

Stock #

R8332 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

132738797-132805421 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 132791282 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 841 (D841G)

Ref Sequence

ENSEMBL: ENSMUSP00000047113 (fasta)

Gene Model

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

AlphaFold

Q6PAL7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044521
AA Change: D841G

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

SMART Domains

Protein: ENSMUSP00000047113
Gene: ENSMUSG00000037692
AA Change: D841G

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: D841G

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

SMART Domains

Protein: ENSMUSP00000101534
Gene: ENSMUSG00000037692
AA Change: D841G

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: D841G

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

SMART Domains

Protein: ENSMUSP00000101535
Gene: ENSMUSG00000037692
AA Change: D841G

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: D841G

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

SMART Domains

Protein: ENSMUSP00000101536
Gene: ENSMUSG00000037692
AA Change: D841G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	G	7: 119,815,436 (GRCm39)	D228G	probably benign	Het
Adgrv1	C	T	13: 81,593,462 (GRCm39)	R4175H	probably damaging	Het
Alms1	G	A	6: 85,597,561 (GRCm39)	V796I	probably benign	Het
Angptl8	A	T	9: 21,748,137 (GRCm39)		probably null	Het
Arhgap23	A	T	11: 97,381,960 (GRCm39)	S61T	unknown	Het
Bcl9	C	T	3: 97,117,086 (GRCm39)	G536D	possibly damaging	Het
Bscl2	A	G	19: 8,823,594 (GRCm39)	D220G	probably benign	Het
Ccl28	C	A	13: 120,107,514 (GRCm39)	C58*	probably null	Het
Ccr8	A	T	9: 119,923,440 (GRCm39)	Y185F	probably damaging	Het
Chsy3	T	A	18: 59,542,087 (GRCm39)	H408Q	probably damaging	Het
Cntrl	A	G	2: 35,016,037 (GRCm39)	E351G	probably damaging	Het
Cog5	A	T	12: 31,883,222 (GRCm39)	K384*	probably null	Het
Cpne1	T	C	2: 155,920,317 (GRCm39)	T187A	probably benign	Het
Crat	T	A	2: 30,295,084 (GRCm39)	I444F	possibly damaging	Het
Crb1	T	A	1: 139,165,152 (GRCm39)	M1052L	probably damaging	Het
Cstdc1	A	G	2: 148,625,377 (GRCm39)	K104E	probably damaging	Het
Erp44	A	G	4: 48,243,475 (GRCm39)		probably null	Het
Flad1	G	T	3: 89,314,828 (GRCm39)	Q290K	probably benign	Het
Gata3os	G	A	2: 9,887,650 (GRCm39)	R17H	unknown	Het
Gli3	G	T	13: 15,888,133 (GRCm39)	R516L	possibly damaging	Het
Gm19402	A	T	10: 77,526,048 (GRCm39)	C182S	unknown	Het
Herc2	T	C	7: 55,796,343 (GRCm39)	I1905T	probably damaging	Het
Ikbkb	A	T	8: 23,155,641 (GRCm39)	V617D	possibly damaging	Het
Intu	A	G	3: 40,629,719 (GRCm39)	I350V	probably benign	Het
Limd1	A	G	9: 123,308,319 (GRCm39)	D6G	probably damaging	Het
Llgl1	A	G	11: 60,601,210 (GRCm39)	D716G	possibly damaging	Het
Lrp1	G	A	10: 127,407,805 (GRCm39)	T1828I	probably damaging	Het
Or2at1	T	C	7: 99,417,334 (GRCm39)	*322Q	probably null	Het
Or6c38	A	G	10: 128,929,174 (GRCm39)	I223T	possibly damaging	Het
Piezo2	A	T	18: 63,145,857 (GRCm39)	I2689N	possibly damaging	Het
Prag1	T	C	8: 36,613,457 (GRCm39)	I1003T	probably damaging	Het
Rbm8a2	T	C	1: 175,805,967 (GRCm39)	D170G	unknown	Het
Rnf213	A	C	11: 119,374,524 (GRCm39)	Q5027P		Het
Robo1	T	C	16: 72,775,466 (GRCm39)	Y664H	probably damaging	Het
Rrn3	T	A	16: 13,616,484 (GRCm39)	D287E	possibly damaging	Het
Slc22a16	G	A	10: 40,449,741 (GRCm39)	R80Q	possibly damaging	Het
Slc4a4	A	T	5: 89,327,680 (GRCm39)	T706S	probably benign	Het
Srek1ip1	A	T	13: 104,970,757 (GRCm39)	R69S	possibly damaging	Het
St3gal5	T	A	6: 72,119,165 (GRCm39)	C119*	probably null	Het
T2	A	G	17: 8,609,784 (GRCm39)	M78V	probably null	Het
Taok1	A	T	11: 77,432,545 (GRCm39)	V756D	possibly damaging	Het
Tecta	C	T	9: 42,286,310 (GRCm39)	G782D	probably damaging	Het
Thbs2	G	A	17: 14,900,032 (GRCm39)	P615L	probably damaging	Het
Ttll11	T	A	2: 35,830,721 (GRCm39)	I217F	possibly damaging	Het
Vmn2r57	C	T	7: 41,049,677 (GRCm39)	V691M	probably benign	Het
Xkr4	T	C	1: 3,492,122 (GRCm39)	Y267C	probably damaging	Het
Zfp59	A	G	7: 27,552,971 (GRCm39)	D141G	probably benign	Het
Zfp760	A	G	17: 21,942,301 (GRCm39)	E492G	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
R5997:Ahdc1	UTSW	4	132,791,206 (GRCm39)	missense	probably benign	0.05
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
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'- CAAGCTGGCAGAAACTGTG -3'
(R):5'- ATCCCATAGCTTGTTGCCCG -3'

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

Posted On

2020-09-02