Mutagenetix > Incidental Mutation

Incidental Mutation 'R9307:Acd'

705273

Institutional Source

Beutler Lab

Gene Symbol

Acd

Ensembl Gene

ENSMUSG00000038000

Gene Name

adrenocortical dysplasia

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.443) question?

Stock #

R9307 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106424789-106427748 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106425514 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 273 (D273G)

Ref Sequence

ENSEMBL: ENSMUSP00000048180 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000013299] [ENSMUST00000042608] [ENSMUST00000093195] [ENSMUST00000098444] [ENSMUST00000211870] [ENSMUST00000211888] [ENSMUST00000212061] [ENSMUST00000212352] [ENSMUST00000212430] [ENSMUST00000212642] [ENSMUST00000212650] [ENSMUST00000213019]

AlphaFold

Q5EE38

Predicted Effect

probably benign
Transcript: ENSMUST00000013299

SMART Domains

Protein: ENSMUSP00000013299
Gene: ENSMUSG00000013155

Domain	Start	End	E-Value	Type
low complexity region	220	236	N/A	INTRINSIC
Pfam:Enkurin	243	339	6.3e-26	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000042608
AA Change: D273G

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000048180
Gene: ENSMUSG00000038000
AA Change: D273G

Domain	Start	End	E-Value	Type
Pfam:TPP1	11	118	2.4e-23	PFAM
low complexity region	259	272	N/A	INTRINSIC
low complexity region	296	319	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000093195

SMART Domains

Protein: ENSMUSP00000090886
Gene: ENSMUSG00000005699

Domain	Start	End	E-Value	Type
PB1	15	95	2.81e-15	SMART
PDZ	167	250	1.38e-12	SMART
low complexity region	263	286	N/A	INTRINSIC
low complexity region	309	323	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000098444

SMART Domains

Protein: ENSMUSP00000096043
Gene: ENSMUSG00000005699

Domain	Start	End	E-Value	Type
PB1	4	79	1.28e-9	SMART
PDZ	151	234	1.38e-12	SMART
low complexity region	247	270	N/A	INTRINSIC
low complexity region	293	307	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000211870

Predicted Effect

probably benign
Transcript: ENSMUST00000211888

Predicted Effect

probably benign
Transcript: ENSMUST00000212061

Predicted Effect

probably benign
Transcript: ENSMUST00000212352

Predicted Effect

probably benign
Transcript: ENSMUST00000212430

Predicted Effect

probably benign
Transcript: ENSMUST00000212642

Predicted Effect

probably benign
Transcript: ENSMUST00000212650

Predicted Effect

probably benign
Transcript: ENSMUST00000213019

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.8%

Validation Efficiency

100% (64/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is involved in telomere function. This protein is one of six core proteins in the telosome/shelterin telomeric complex, which functions to maintain telomere length and to protect telomere ends. Through its interaction with other components, this protein plays a key role in the assembly and stabilization of this complex, and it mediates the access of telomerase to the telomere. Multiple transcript variants encoding different isoforms have been found for this gene. This gene, which is also referred to as TPP1, is distinct from the unrelated TPP1 gene on chromosome 11, which encodes tripeptidyl-peptidase I. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations in this gene produce skeletal, coat, vibrissae and skin pigmentation defects. Kidney and adrenal abnormalities cause a shortened lifespan. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	C	3: 137,771,183 (GRCm39)	D124A	probably benign	Het
Acte1	G	T	7: 143,434,902 (GRCm39)		probably null	Het
Adam15	T	C	3: 89,254,790 (GRCm39)	D90G	possibly damaging	Het
Adam2	A	T	14: 66,287,921 (GRCm39)	C392S	probably damaging	Het
Adam23	T	A	1: 63,576,131 (GRCm39)	N304K	probably damaging	Het
Adam34l	A	C	8: 44,079,304 (GRCm39)	F307V	probably benign	Het
Aldh3b3	T	C	19: 4,013,882 (GRCm39)	F28L	probably damaging	Het
Bsn	A	G	9: 107,992,993 (GRCm39)	S920P	probably benign	Het
Btc	A	G	5: 91,550,515 (GRCm39)		probably null	Het
Chchd2	A	T	5: 129,916,054 (GRCm39)	V12E	probably benign	Het
Chia1	A	G	3: 106,035,991 (GRCm39)		probably benign	Het
Chil4	A	T	3: 106,111,382 (GRCm39)		probably null	Het
Clock	A	G	5: 76,364,671 (GRCm39)	F815L	unknown	Het
Cmtr2	C	T	8: 110,949,712 (GRCm39)	T674M	probably benign	Het
Cnbd1	A	C	4: 18,887,647 (GRCm39)	I289R	probably damaging	Het
Cog2	A	T	8: 125,253,837 (GRCm39)		probably null	Het
Col13a1	T	C	10: 61,703,248 (GRCm39)	I454V	unknown	Het
Cyct	T	A	2: 76,184,457 (GRCm39)	Y98F	probably benign	Het
Dcaf6	T	C	1: 165,227,236 (GRCm39)	E297G	possibly damaging	Het
Dgka	T	C	10: 128,567,046 (GRCm39)	H271R	probably damaging	Het
Dnah9	T	A	11: 65,976,300 (GRCm39)	I1250F	probably benign	Het
Dock4	T	C	12: 40,686,155 (GRCm39)	L130P	probably damaging	Het
Dpyd	G	A	3: 119,108,560 (GRCm39)	V868I	probably benign	Het
Dync1li1	T	A	9: 114,535,076 (GRCm39)	D113E	probably damaging	Het
Fat3	T	C	9: 15,932,719 (GRCm39)	K1405E	probably damaging	Het
Fbn2	A	G	18: 58,342,856 (GRCm39)	C8R	probably benign	Het
Frmd4a	A	G	2: 4,609,044 (GRCm39)	M971V	probably benign	Het
Glyatl3	C	T	17: 41,223,553 (GRCm39)		probably null	Het
Grip1	A	T	10: 119,821,454 (GRCm39)	H373L	probably benign	Het
Ins1	T	C	19: 52,253,258 (GRCm39)	L66P	possibly damaging	Het
Kif21b	A	T	1: 136,101,800 (GRCm39)	I1616L	probably benign	Het
Map7d1	A	G	4: 126,128,024 (GRCm39)	M637T	unknown	Het
Mc2r	A	T	18: 68,540,636 (GRCm39)	M219K	probably benign	Het
Mcpt1	A	G	14: 56,256,867 (GRCm39)	D135G	possibly damaging	Het
Mturn	T	C	6: 54,676,541 (GRCm39)		probably null	Het
Mutyh	T	A	4: 116,674,074 (GRCm39)		probably null	Het
Myh3	A	G	11: 66,984,397 (GRCm39)	D1078G	possibly damaging	Het
Or4d5	T	C	9: 40,012,451 (GRCm39)	I112V	probably benign	Het
Pcdha12	A	G	18: 37,153,874 (GRCm39)	K198E	probably damaging	Het
Pcf11	A	T	7: 92,306,534 (GRCm39)	N1211K	possibly damaging	Het
Piezo1	G	A	8: 123,213,832 (GRCm39)	P1711S		Het
Pkd1	T	A	17: 24,769,451 (GRCm39)	L72Q	possibly damaging	Het
Pramel20	C	A	4: 143,299,314 (GRCm39)	L326I	probably damaging	Het
Prss12	A	G	3: 123,299,049 (GRCm39)	D607G	probably benign	Het
R3hdml	T	C	2: 163,344,372 (GRCm39)	*254R	probably null	Het
Rasal3	TTGGACCTGAGTGGA	TTGGA	17: 32,612,502 (GRCm39)	782	probably null	Het
Relch	A	T	1: 105,615,077 (GRCm39)	Y272F	probably benign	Het
Rev3l	C	T	10: 39,693,149 (GRCm39)	P410S	probably benign	Het
Sec14l2	A	G	11: 4,068,665 (GRCm39)	V5A	probably benign	Het
Slc12a3	A	C	8: 95,061,625 (GRCm39)	I291L	probably benign	Het
Slc4a10	T	C	2: 62,083,662 (GRCm39)	F372L	probably damaging	Het
Spta1	T	C	1: 174,035,978 (GRCm39)	W1095R	probably damaging	Het
Synj1	T	C	16: 90,785,095 (GRCm39)	T254A	probably damaging	Het
Taar2	T	C	10: 23,817,237 (GRCm39)	F259S	probably damaging	Het
Tns2	C	A	15: 102,018,996 (GRCm39)	L396I	probably damaging	Het
Tom1l1	TTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTG	11: 90,540,648 (GRCm39)		probably benign	Het
Traf5	T	C	1: 191,747,033 (GRCm39)	D96G	probably damaging	Het
Trgv3	A	G	13: 19,427,441 (GRCm39)	E108G	probably damaging	Het
Trpv6	A	G	6: 41,602,378 (GRCm39)	V336A	probably benign	Het
Usp45	A	T	4: 21,824,998 (GRCm39)	L583F	probably damaging	Het
Utrn	T	C	10: 12,554,475 (GRCm39)	D1538G	probably benign	Het
Vmn1r209	T	A	13: 22,990,072 (GRCm39)	H206L	probably damaging	Het
Zfp51	T	A	17: 21,684,733 (GRCm39)	H449Q	probably benign	Het
Zfp653	G	A	9: 21,969,321 (GRCm39)	S315F	possibly damaging	Het

Other mutations in Acd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00326:Acd	APN	8	106,425,086 (GRCm39)	missense	probably damaging	1.00
IGL02322:Acd	APN	8	106,425,268 (GRCm39)	missense	probably benign	0.04
R0613:Acd	UTSW	8	106,427,200 (GRCm39)	splice site	probably null
R1750:Acd	UTSW	8	106,425,524 (GRCm39)	missense	possibly damaging	0.93
R1824:Acd	UTSW	8	106,427,122 (GRCm39)	missense	probably damaging	1.00
R1870:Acd	UTSW	8	106,425,039 (GRCm39)	critical splice donor site	probably null
R2888:Acd	UTSW	8	106,425,470 (GRCm39)	missense	probably benign	0.08
R2945:Acd	UTSW	8	106,426,927 (GRCm39)	nonsense	probably null
R3001:Acd	UTSW	8	106,426,913 (GRCm39)	critical splice donor site	probably null
R3002:Acd	UTSW	8	106,426,913 (GRCm39)	critical splice donor site	probably null
R3003:Acd	UTSW	8	106,426,913 (GRCm39)	critical splice donor site	probably null
R4795:Acd	UTSW	8	106,427,647 (GRCm39)	missense	possibly damaging	0.92
R4806:Acd	UTSW	8	106,424,922 (GRCm39)	missense	possibly damaging	0.75
R6111:Acd	UTSW	8	106,424,919 (GRCm39)	missense	probably benign	0.04
R6236:Acd	UTSW	8	106,427,127 (GRCm39)	missense	probably benign	0.01
R7096:Acd	UTSW	8	106,425,121 (GRCm39)	missense	possibly damaging	0.52
R8677:Acd	UTSW	8	106,427,576 (GRCm39)	missense	probably damaging	1.00
R8995:Acd	UTSW	8	106,427,131 (GRCm39)	missense	probably damaging	1.00
R9272:Acd	UTSW	8	106,424,952 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTGAAGGAGCACTGGAACTC -3'
(R):5'- ACTTGACTGTGGAGAGGCTG -3'

Sequencing Primer
(F):5'- TGAGCTCTGGTCTCACAGGAC -3'
(R):5'- GGCTGTGAAATGCTGTATAACACTCG -3'

Posted On

2022-03-25