Mutagenetix > Incidental Mutation

Incidental Mutation 'R9179:Ahdc1'

696879

Institutional Source

Beutler Lab

Gene Symbol

Ahdc1

Ensembl Gene

ENSMUSG00000037692

Gene Name

AT hook, DNA binding motif, containing 1

Synonyms

D030015G18Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9179 (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 132788929 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 57 (F57I)

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: F57I

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000047113
Gene: ENSMUSG00000037692
AA Change: F57I

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: F57I

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101534
Gene: ENSMUSG00000037692
AA Change: F57I

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: F57I

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101535
Gene: ENSMUSG00000037692
AA Change: F57I

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: F57I

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101536
Gene: ENSMUSG00000037692
AA Change: F57I

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: 98.9%

Validation Efficiency

98% (54/55)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013D24Rik	T	A	6: 124,333,882 (GRCm39)	M33L	probably benign	Het
2310003L06Rik	A	G	5: 88,119,890 (GRCm39)	T216A	probably benign	Het
9330161L09Rik	A	C	12: 103,373,837 (GRCm39)	C12G	unknown	Het
Amotl1	C	A	9: 14,461,787 (GRCm39)	A809S	possibly damaging	Het
Ankfn1	C	T	11: 89,414,011 (GRCm39)	M121I	probably benign	Het
Aspm	A	G	1: 139,404,453 (GRCm39)	D1261G	probably damaging	Het
Axl	T	C	7: 25,469,658 (GRCm39)	T502A	probably damaging	Het
Catsperd	G	A	17: 56,968,252 (GRCm39)	D546N	probably benign	Het
Ccdc102a	A	G	8: 95,639,748 (GRCm39)	V182A	possibly damaging	Het
Cdh23	C	T	10: 60,153,664 (GRCm39)	A2309T	probably benign	Het
Cfap69	A	T	5: 5,676,064 (GRCm39)	N210K	probably benign	Het
Cnot1	A	G	8: 96,500,054 (GRCm39)	S147P	probably benign	Het
Cntnap5c	T	C	17: 58,600,912 (GRCm39)	S752P	probably benign	Het
Cyp3a41a	A	T	5: 145,642,654 (GRCm39)	M235K	probably benign	Het
Cyp4f15	A	G	17: 32,919,185 (GRCm39)	D336G	possibly damaging	Het
Dagla	A	G	19: 10,228,525 (GRCm39)	I631T	possibly damaging	Het
Dph6	C	T	2: 114,353,591 (GRCm39)	C199Y	probably damaging	Het
Ermard	T	A	17: 15,273,495 (GRCm39)	L360Q	probably damaging	Het
F830045P16Rik	T	C	2: 129,314,708 (GRCm39)	T190A	probably benign	Het
Fgfr3	G	T	5: 33,887,316 (GRCm39)	V212L	possibly damaging	Het
Flnb	C	A	14: 7,887,541 (GRCm38)	C450*	probably null	Het
Gls	T	C	1: 52,239,015 (GRCm39)	Y362C	probably damaging	Het
Gngt1	A	G	6: 3,994,246 (GRCm39)	D8G	possibly damaging	Het
Gns	T	C	10: 121,216,080 (GRCm39)	F276L		Het
Grin2d	A	G	7: 45,506,176 (GRCm39)	S572P	probably damaging	Het
Impa2	C	T	18: 67,422,473 (GRCm39)		probably benign	Het
Itgal	A	T	7: 126,905,883 (GRCm39)	D355V	probably benign	Het
Kdm6b	A	T	11: 69,297,521 (GRCm39)		probably null	Het
Klk1b1	T	A	7: 43,618,715 (GRCm39)	C31S	probably damaging	Het
Ldb3	A	T	14: 34,277,312 (GRCm39)	V354E	probably benign	Het
Mettl21c	T	A	1: 44,049,142 (GRCm39)	Y135F	probably benign	Het
Mocs1	A	G	17: 49,740,303 (GRCm39)	T77A	probably damaging	Het
Ndufs1	T	C	1: 63,209,274 (GRCm39)	N30D	probably benign	Het
Or1j11	T	C	2: 36,312,126 (GRCm39)	S239P	probably damaging	Het
Or4a71	T	A	2: 89,358,494 (GRCm39)	K87*	probably null	Het
Otog	C	A	7: 45,937,885 (GRCm39)	P1865T	possibly damaging	Het
Pabpc1l	T	C	2: 163,873,140 (GRCm39)	S137P	probably damaging	Het
Pilrb1	C	A	5: 137,855,657 (GRCm39)	W78L	probably damaging	Het
Plekha6	A	G	1: 133,214,085 (GRCm39)	Y832C	possibly damaging	Het
Ppan	C	A	9: 20,803,199 (GRCm39)	Q424K	probably benign	Het
Ppp1r12a	T	A	10: 108,087,782 (GRCm39)	N544K	probably damaging	Het
Pramel16	T	C	4: 143,676,294 (GRCm39)	E270G	probably benign	Het
Pstpip2	A	G	18: 77,961,155 (GRCm39)	D246G	possibly damaging	Het
Rasef	G	A	4: 73,662,356 (GRCm39)	T198I	probably damaging	Het
Rbm12	T	C	2: 155,938,463 (GRCm39)	H603R	probably benign	Het
Rims1	T	C	1: 22,482,490 (GRCm39)	R179G	probably damaging	Het
Scel	T	C	14: 103,811,836 (GRCm39)	L288P	possibly damaging	Het
Sel1l	A	T	12: 91,778,726 (GRCm39)	D696E	probably benign	Het
Slc4a8	A	G	15: 100,689,482 (GRCm39)	K416R	possibly damaging	Het
Tmem132b	A	T	5: 125,700,115 (GRCm39)	M218L	probably benign	Het
Tnrc6a	T	C	7: 122,791,881 (GRCm39)	S1800P	probably benign	Het
Tpcn1	A	C	5: 120,680,015 (GRCm39)	L576R	probably damaging	Het
Vmn2r34	T	G	7: 7,675,723 (GRCm39)	Q555P	possibly damaging	Het
Vwa8	C	T	14: 79,335,801 (GRCm39)	T1419I	probably benign	Het
Xrn2	T	C	2: 146,855,081 (GRCm39)	Y14H	probably benign	Het
Zfp1007	A	G	5: 109,823,708 (GRCm39)	C581R	probably damaging	Het
Zfyve28	A	T	5: 34,382,376 (GRCm39)	D241E	probably benign	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
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
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'- ACAAGGTCAGGATGCGTGTG -3'
(R):5'- AAGTCCTTCATGATGTCAATCAGCTG -3'

Sequencing Primer
(F):5'- TCAGGATGCGTGTGAAGCC -3'
(R):5'- GATGTCAATCAGCTGCACTACTGG -3'

Posted On

2022-02-07