Mutagenetix > Incidental Mutation

Incidental Mutation 'R8725:Ahdc1'

673166

Institutional Source

Beutler Lab

Gene Symbol

Ahdc1

Ensembl Gene

ENSMUSG00000037692

Gene Name

AT hook, DNA binding motif, containing 1

Synonyms

D030015G18Rik

MMRRC Submission

068574-MU

Accession Numbers

Essential gene?

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

Stock #

R8725 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

132738797-132805421 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 132792743 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 1328 (V1328E)

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: V1328E

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

SMART Domains

Protein: ENSMUSP00000047113
Gene: ENSMUSG00000037692
AA Change: V1328E

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: V1328E

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

SMART Domains

Protein: ENSMUSP00000101534
Gene: ENSMUSG00000037692
AA Change: V1328E

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: V1328E

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

SMART Domains

Protein: ENSMUSP00000101535
Gene: ENSMUSG00000037692
AA Change: V1328E

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: V1328E

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

SMART Domains

Protein: ENSMUSP00000101536
Gene: ENSMUSG00000037692
AA Change: V1328E

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: 100.0%
10x: 99.8%
20x: 99.5%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acod1	T	A	14: 103,287,075 (GRCm39)	W69R	probably damaging	Het
Adamtsl4	C	T	3: 95,584,426 (GRCm39)	R990Q	possibly damaging	Het
Bpifb2	A	G	2: 153,731,356 (GRCm39)	H244R	possibly damaging	Het
Camk1	C	A	6: 113,315,109 (GRCm39)	V199L	probably damaging	Het
Ccdc18	A	T	5: 108,328,283 (GRCm39)	K661I	possibly damaging	Het
Cdh16	C	T	8: 105,344,874 (GRCm39)	V444I	probably benign	Het
Cep295	A	T	9: 15,243,715 (GRCm39)	Y1580*	probably null	Het
Cntnap5c	A	T	17: 58,362,663 (GRCm39)	N339Y	probably damaging	Het
Col6a3	C	G	1: 90,695,328 (GRCm39)		probably benign	Het
Deup1	T	A	9: 15,503,721 (GRCm39)	D280V	probably damaging	Het
Dlat	G	T	9: 50,560,967 (GRCm39)	A360E	probably damaging	Het
Evpl	T	A	11: 116,113,019 (GRCm39)	D1557V	probably benign	Het
Ext1	A	G	15: 53,208,065 (GRCm39)	V232A	possibly damaging	Het
Gdpd5	T	C	7: 99,105,726 (GRCm39)	I514T	possibly damaging	Het
Gm14443	A	T	2: 175,010,693 (GRCm39)	C584*	probably null	Het
Gm2696	T	A	10: 77,672,034 (GRCm39)	C78S	unknown	Het
Gm4131	T	C	14: 62,701,300 (GRCm39)	D276G	possibly damaging	Het
Gm5114	C	T	7: 39,060,657 (GRCm39)	G64D	probably benign	Het
Gsx2	G	T	5: 75,236,755 (GRCm39)	A112S	probably benign	Het
Hebp1	G	T	6: 135,114,919 (GRCm39)	R181S	probably damaging	Het
Hectd4	G	A	5: 121,488,557 (GRCm39)	G3616D	probably damaging	Het
Hemgn	T	G	4: 46,394,638 (GRCm39)	T491P	probably benign	Het
Idh2	TCCCAGGGCC	TCC	7: 79,748,079 (GRCm39)		probably null	Het
Itsn1	T	C	16: 91,636,721 (GRCm39)	S723P	unknown	Het
Kat6a	G	A	8: 23,398,293 (GRCm39)	G287D	probably damaging	Het
Ktn1	T	G	14: 47,907,757 (GRCm39)		probably benign	Het
Lrrc56	C	A	7: 140,778,246 (GRCm39)	D79E	possibly damaging	Het
Lrrn1	C	T	6: 107,544,303 (GRCm39)	Q34*	probably null	Het
Mlxipl	A	G	5: 135,157,483 (GRCm39)	M340V	probably benign	Het
Mroh6	T	C	15: 75,756,563 (GRCm39)	T604A	possibly damaging	Het
Or13a26	G	T	7: 140,284,607 (GRCm39)	V148L	probably benign	Het
Or1n1	T	A	2: 36,749,610 (GRCm39)	Y250F	probably damaging	Het
Or4c122	A	T	2: 89,079,658 (GRCm39)	S115T	probably benign	Het
Palb2	A	C	7: 121,710,884 (GRCm39)	V1022G	unknown	Het
Pank1	T	G	19: 34,855,989 (GRCm39)	H163P	possibly damaging	Het
Pcdha12	A	G	18: 37,154,736 (GRCm39)	Q485R	probably benign	Het
Pcdhb15	T	A	18: 37,608,734 (GRCm39)	S655R	probably damaging	Het
Pcdhgb1	T	A	18: 37,814,467 (GRCm39)	C319*	probably null	Het
Pipox	A	T	11: 77,774,804 (GRCm39)	L93*	probably null	Het
Pkd1l1	A	C	11: 8,911,482 (GRCm39)	V265G		Het
Pld3	G	A	7: 27,239,079 (GRCm39)	Q149*	probably null	Het
Pramel34	A	T	5: 93,784,316 (GRCm39)	Y383N	probably damaging	Het
Prpf3	T	A	3: 95,748,021 (GRCm39)	T415S	possibly damaging	Het
Rasgef1b	G	A	5: 99,447,895 (GRCm39)	T105I	unknown	Het
Rere	G	T	4: 150,701,792 (GRCm39)	E24*	probably null	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Ric3	A	T	7: 108,637,924 (GRCm39)	D277E	probably benign	Het
Rnf44	A	T	13: 54,831,826 (GRCm39)	M82K	probably damaging	Het
Rsph14	T	C	10: 74,795,516 (GRCm39)	N223S	probably benign	Het
Rusc2	A	G	4: 43,415,396 (GRCm39)	E234G	probably damaging	Het
Scfd2	T	C	5: 74,642,900 (GRCm39)	N349S	probably benign	Het
Sema3d	G	A	5: 12,555,822 (GRCm39)	C183Y	probably damaging	Het
Setd2	T	C	9: 110,402,912 (GRCm39)	I74T		Het
Slc39a12	T	C	2: 14,454,670 (GRCm39)	S563P	probably damaging	Het
Slc9a8	A	T	2: 167,315,454 (GRCm39)	D526V	probably damaging	Het
Smpdl3b	G	T	4: 132,461,060 (GRCm39)	T339N	probably damaging	Het
Speer1e	A	T	5: 11,236,408 (GRCm39)	Q147L	probably benign	Het
Spi1	G	A	2: 90,945,516 (GRCm39)	G199D	probably damaging	Het
Stx2	T	C	5: 129,070,564 (GRCm39)	T118A	probably damaging	Het
Synj2	C	A	17: 6,088,015 (GRCm39)	S1355R	possibly damaging	Het
Taf15	A	G	11: 83,389,964 (GRCm39)	T245A	probably benign	Het
Tnrc6b	C	T	15: 80,760,653 (GRCm39)	A120V	probably damaging	Het
Usp19	G	T	9: 108,370,934 (GRCm39)	G198W	probably damaging	Het
Wdtc1	G	T	4: 133,041,114 (GRCm39)	H46N	probably damaging	Het
Zbtb1	C	A	12: 76,432,646 (GRCm39)	R211S	probably damaging	Het
Zc3h8	A	G	2: 128,775,207 (GRCm39)	V151A	probably benign	Het
Zfp219	T	C	14: 52,244,899 (GRCm39)	T499A	possibly damaging	Het
Zfp689	A	G	7: 127,047,940 (GRCm39)	F31L	probably damaging	Het
Zfp879	C	T	11: 50,729,321 (GRCm39)	D26N	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
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
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'- TGGGCTTTTCAACATCCACC -3'
(R):5'- AAGCCTAGCGTTGGTGAACAG -3'

Sequencing Primer
(F):5'- TCTGGCTACCCGTCCAAAC -3'
(R):5'- TTCTGCAGGCCAGCATC -3'

Posted On

2021-04-30