Mutagenetix > Incidental Mutation

Incidental Mutation 'R4987:Ahdc1'

385905

Institutional Source

Beutler Lab

Gene Symbol

Ahdc1

Ensembl Gene

ENSMUSG00000037692

Gene Name

AT hook, DNA binding motif, containing 1

Synonyms

D030015G18Rik

MMRRC Submission

042581-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.189) question?

Stock #

R4987 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

132738797-132805421 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 132791631 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 957 (H957Q)

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: H957Q

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000047113
Gene: ENSMUSG00000037692
AA Change: H957Q

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: H957Q

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000101534
Gene: ENSMUSG00000037692
AA Change: H957Q

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: H957Q

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000101535
Gene: ENSMUSG00000037692
AA Change: H957Q

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: H957Q

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000101536
Gene: ENSMUSG00000037692
AA Change: H957Q

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

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.3%

Validation Efficiency

98% (44/45)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acrbp	T	C	6: 125,030,725 (GRCm39)	S249P	probably benign	Het
Adcy4	A	G	14: 56,010,934 (GRCm39)	V661A	probably benign	Het
Atp10b	A	G	11: 43,042,440 (GRCm39)		probably benign	Het
B3gnt5	A	T	16: 19,587,952 (GRCm39)	N57I	probably damaging	Het
Brms1l	T	A	12: 55,912,800 (GRCm39)	D264E	probably benign	Het
Camk1g	T	A	1: 193,030,783 (GRCm39)	N309Y	probably damaging	Het
Chl1	A	G	6: 103,651,938 (GRCm39)	T285A	probably damaging	Het
Cspg4b	T	C	13: 113,454,635 (GRCm39)	V227A	probably benign	Het
Dennd1c	G	T	17: 57,380,852 (GRCm39)	T200K	probably damaging	Het
Dpysl3	C	A	18: 43,461,492 (GRCm39)	M566I	probably benign	Het
Dscam	A	T	16: 96,498,721 (GRCm39)	D985E	probably benign	Het
Fmo5	T	C	3: 97,542,894 (GRCm39)	M68T	probably benign	Het
Gm26996	A	G	6: 130,567,959 (GRCm39)		unknown	Het
Gm9991	A	T	1: 90,603,138 (GRCm39)		noncoding transcript	Het
Gzmc	T	A	14: 56,468,997 (GRCm39)	I241L	probably damaging	Het
Hibadh	A	T	6: 52,599,880 (GRCm39)	S105R	probably damaging	Het
Krt87	A	G	15: 101,384,890 (GRCm39)	I402T	probably benign	Het
Krtap31-2	A	G	11: 99,827,396 (GRCm39)	D76G	possibly damaging	Het
Lin9	A	G	1: 180,496,329 (GRCm39)	S249G	probably damaging	Het
Lpcat1	T	A	13: 73,637,222 (GRCm39)		probably null	Het
Mfap4	A	G	11: 61,376,908 (GRCm39)	I46V	probably benign	Het
Nos1	T	C	5: 118,064,598 (GRCm39)		probably null	Het
Nostrin	A	G	2: 68,986,775 (GRCm39)	M107V	probably benign	Het
Nutm2	C	T	13: 50,626,379 (GRCm39)	T322I	possibly damaging	Het
Or8k33	A	C	2: 86,383,579 (GRCm39)	D296E	probably null	Het
Pcdha12	T	A	18: 37,154,604 (GRCm39)	V441E	probably damaging	Het
Plcd4	A	G	1: 74,587,118 (GRCm39)		probably benign	Het
Plscr1l1	T	C	9: 92,236,637 (GRCm39)	S175P	probably damaging	Het
Ppme1	T	C	7: 99,994,278 (GRCm39)	D145G	probably benign	Het
Rbm25	T	C	12: 83,724,630 (GRCm39)	V793A	probably damaging	Het
Rlbp1	A	T	7: 79,029,879 (GRCm39)	V118E	probably damaging	Het
Serinc2	C	T	4: 130,156,820 (GRCm39)		probably null	Het
Slc25a32	A	G	15: 38,963,414 (GRCm39)	C136R	possibly damaging	Het
Smco2	A	G	6: 146,757,590 (GRCm39)	D48G	possibly damaging	Het
Trpv4	T	C	5: 114,760,793 (GRCm39)	D846G	probably benign	Het
Ubr1	A	T	2: 120,794,047 (GRCm39)	L46I	probably benign	Het
Wdsub1	A	G	2: 59,700,737 (GRCm39)		probably benign	Het
Zp3	T	A	5: 136,016,359 (GRCm39)	C320*	probably null	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
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
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'- AAGGCATCAGGAACCTATGC -3'
(R):5'- TTGAAGAAGGAAGCCTTGCTGG -3'

Sequencing Primer
(F):5'- CTCCAGTGCACTGCCTG -3'
(R):5'- CCTTGCTGGGCGGTAGG -3'

Posted On

2016-05-10