Mutagenetix > Incidental Mutation

Incidental Mutation 'R3001:Acd'

257327

Institutional Source

Beutler Lab

Gene Symbol

Acd

Ensembl Gene

ENSMUSG00000038000

Gene Name

adrenocortical dysplasia

Synonyms

MMRRC Submission

040530-MU

Accession Numbers

Essential gene?

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

Stock #

R3001 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106424789-106427748 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 106426913 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000048180 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000013299] [ENSMUST00000042608] [ENSMUST00000042608] [ENSMUST00000062574] [ENSMUST00000093195] [ENSMUST00000098444] [ENSMUST00000211870] [ENSMUST00000211888] [ENSMUST00000212642] [ENSMUST00000212650] [ENSMUST00000212061] [ENSMUST00000212352] [ENSMUST00000212430] [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 null
Transcript: ENSMUST00000042608

SMART Domains

Protein: ENSMUSP00000048180
Gene: ENSMUSG00000038000

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 null
Transcript: ENSMUST00000042608

SMART Domains

Protein: ENSMUSP00000048180
Gene: ENSMUSG00000038000

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

noncoding transcript
Transcript: ENSMUST00000062574

SMART Domains

Protein: ENSMUSP00000052322
Gene: ENSMUSG00000050357

Domain	Start	End	E-Value	Type
Pfam:CARMIL_C	149	442	3.3e-62	PFAM
low complexity region	467	484	N/A	INTRINSIC
low complexity region	631	659	N/A	INTRINSIC
low complexity region	696	727	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: ENSMUST00000212642

Predicted Effect

probably benign
Transcript: ENSMUST00000212650

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212634

Predicted Effect

probably benign
Transcript: ENSMUST00000212061

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212972

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212716

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212162

Predicted Effect

probably benign
Transcript: ENSMUST00000212352

Predicted Effect

probably benign
Transcript: ENSMUST00000212430

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212643

Predicted Effect

probably benign
Transcript: ENSMUST00000213019

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212687

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

98% (47/48)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810459M11Rik	T	C	1: 85,973,802 (GRCm39)	W40R	possibly damaging	Het
A2m	A	G	6: 121,638,406 (GRCm39)	S873G	possibly damaging	Het
Acly	T	C	11: 100,395,053 (GRCm39)	K469E	possibly damaging	Het
Adcy6	T	C	15: 98,494,541 (GRCm39)	T767A	probably benign	Het
Bnip3	T	C	7: 138,496,430 (GRCm39)	I93V	probably benign	Het
Casq2	A	G	3: 102,052,517 (GRCm39)	D269G	probably damaging	Het
Ccdc180	A	G	4: 45,899,988 (GRCm39)	D182G	probably benign	Het
Cep112	A	G	11: 108,331,329 (GRCm39)	E178G	probably damaging	Het
Chrd	T	G	16: 20,556,195 (GRCm39)	Y585*	probably null	Het
Csmd1	A	G	8: 16,246,184 (GRCm39)	F1072L	probably damaging	Het
Dnai2	C	T	11: 114,641,297 (GRCm39)	P374L	probably damaging	Het
Eif4g1	T	A	16: 20,511,134 (GRCm39)	F1289I	probably damaging	Het
Eprs1	T	C	1: 185,156,588 (GRCm39)		probably null	Het
Fasn	T	C	11: 120,700,671 (GRCm39)	D2114G	probably benign	Het
Fbxl17	T	A	17: 63,532,072 (GRCm39)	E590D	probably damaging	Het
Flnb	G	T	14: 7,907,162 (GRCm38)	R1245L	probably benign	Het
Folh1	A	C	7: 86,372,519 (GRCm39)	I678M	probably damaging	Het
Hal	G	A	10: 93,343,381 (GRCm39)	A542T	probably damaging	Het
Hs3st2	T	A	7: 121,099,910 (GRCm39)	M252K	probably damaging	Het
Il27ra	G	T	8: 84,758,660 (GRCm39)	S499*	probably null	Het
Klhdc1	T	A	12: 69,302,983 (GRCm39)	V173D	possibly damaging	Het
Knop1	CTCTTCTTCTTCTTCTTCTTCTTC	CTCTTCTTCTTCTTCTTC	7: 118,451,672 (GRCm39)		probably benign	Het
Krt71	C	T	15: 101,648,906 (GRCm39)		probably benign	Het
Lct	T	C	1: 128,231,963 (GRCm39)	M629V	probably damaging	Het
Lnx2	A	G	5: 146,955,825 (GRCm39)	V657A	probably benign	Het
Lrig1	G	A	6: 94,585,758 (GRCm39)	S810L	probably damaging	Het
Lyst	A	T	13: 13,871,290 (GRCm39)	M2676L	probably benign	Het
Mindy4	T	A	6: 55,195,349 (GRCm39)	S188T	probably benign	Het
Mrgprb3	C	T	7: 48,293,232 (GRCm39)	M106I	probably benign	Het
Ncam1	A	G	9: 49,468,526 (GRCm39)	I311T	probably damaging	Het
Ndufa8	T	A	2: 35,926,571 (GRCm39)	E155V	possibly damaging	Het
Nr4a1	A	G	15: 101,168,853 (GRCm39)		probably null	Het
Or2a12	A	G	6: 42,904,888 (GRCm39)	H241R	probably damaging	Het
Orc3	T	C	4: 34,571,790 (GRCm39)	T660A	probably benign	Het
Otub2	T	C	12: 103,370,536 (GRCm39)	S273P	probably damaging	Het
Otulinl	T	C	15: 27,664,792 (GRCm39)	T55A	probably benign	Het
Phf11c	A	G	14: 59,622,289 (GRCm39)	L241P	probably damaging	Het
Pik3ca	T	A	3: 32,516,946 (GRCm39)	I1058N	probably damaging	Het
Pkd2l1	A	G	19: 44,143,996 (GRCm39)	F359S	possibly damaging	Het
Plxnc1	A	T	10: 94,629,080 (GRCm39)	F1565I	probably damaging	Het
Polr1a	T	A	6: 71,942,628 (GRCm39)	V1156E	probably benign	Het
Polr1a	A	G	6: 71,890,000 (GRCm39)	N73S	probably benign	Het
Pon2	A	G	6: 5,268,976 (GRCm39)		probably null	Het
Ptcd1	G	A	5: 145,096,386 (GRCm39)	L236F	probably damaging	Het
Rgl2	A	G	17: 34,151,579 (GRCm39)	I208V	probably benign	Het
Rptor	G	A	11: 119,763,197 (GRCm39)	R927Q	possibly damaging	Het
Sacm1l	T	C	9: 123,414,149 (GRCm39)		probably benign	Het
Sec14l5	A	G	16: 4,989,746 (GRCm39)	Y230C	probably damaging	Het
Sele	G	T	1: 163,881,140 (GRCm39)	G447C	probably damaging	Het
Slc17a1	G	A	13: 24,062,564 (GRCm39)		probably null	Het
Slc2a4	A	T	11: 69,836,751 (GRCm39)	Y159*	probably null	Het
Slitrk5	A	G	14: 111,917,014 (GRCm39)	K213E	probably damaging	Het
Tdrd1	C	A	19: 56,850,182 (GRCm39)	Y981*	probably null	Het
Tex15	T	C	8: 34,064,556 (GRCm39)	Y1329H	probably benign	Het
Tgif2	C	G	2: 156,686,114 (GRCm39)	S2W	probably damaging	Het
Thoc5	A	G	11: 4,878,688 (GRCm39)	M620V	probably benign	Het
Tmeff2	C	T	1: 51,220,994 (GRCm39)	A323V	probably damaging	Het
Tmem181a	T	A	17: 6,346,061 (GRCm39)	L185H	probably damaging	Het
Tmem68	A	C	4: 3,569,588 (GRCm39)	L34W	probably damaging	Het
Tmtc4	A	T	14: 123,170,230 (GRCm39)		probably null	Het
Trpm2	A	T	10: 77,766,368 (GRCm39)		probably null	Het
Tut4	G	A	4: 108,370,125 (GRCm39)	E714K	probably damaging	Het
Tyk2	C	A	9: 21,020,617 (GRCm39)	R938L	probably benign	Het
Usp33	A	T	3: 152,063,579 (GRCm39)	T18S	probably damaging	Het
V1rd19	A	T	7: 23,703,310 (GRCm39)	I259F	probably benign	Het
Vmn2r24	A	C	6: 123,781,231 (GRCm39)	Q479P	probably benign	Het
Vmn2r98	A	G	17: 19,286,125 (GRCm39)	M208V	probably benign	Het
Wfdc6a	C	T	2: 164,422,225 (GRCm39)	V125I	probably benign	Het
Xpo7	A	G	14: 70,930,085 (GRCm39)		probably benign	Het
Zkscan17	A	G	11: 59,378,077 (GRCm39)	C369R	probably 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
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
R9307:Acd	UTSW	8	106,425,514 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TCTGAATCCTGATTGCTGGGAG -3'
(R):5'- ACCATGCGGTGAGTGGTAAG -3'

Sequencing Primer
(F):5'- TCTCACCTGAAGATCTATGCCAAGTG -3'
(R):5'- TAAGGCTCACTTGGGCGG -3'

Posted On

2015-01-11