Mutagenetix > Incidental Mutation

Incidental Mutation 'R9375:Aamdc'

709544

Institutional Source

Beutler Lab

Gene Symbol

Aamdc

Ensembl Gene

ENSMUSG00000035642

Gene Name

adipogenesis associated Mth938 domain containing

Synonyms

1810020D17Rik, 1810037D19Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R9375 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

97199538-97228704 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 97199902 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 120 (V120A)

Ref Sequence

ENSEMBL: ENSMUSP00000115672 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042627] [ENSMUST00000072725] [ENSMUST00000124552] [ENSMUST00000126085] [ENSMUST00000135998] [ENSMUST00000136757] [ENSMUST00000138060] [ENSMUST00000154853] [ENSMUST00000144858] [ENSMUST00000146605] [ENSMUST00000151840] [ENSMUST00000154779] [ENSMUST00000178078]

AlphaFold

Q8R0P4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042627
AA Change: V88A

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000035883
Gene: ENSMUSG00000035642
AA Change: V88A

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:DUF498	68	115	1.5e-12	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072725
AA Change: V88A

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000072508
Gene: ENSMUSG00000035642
AA Change: V88A

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:DUF498	68	115	1.5e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124552
AA Change: V22A

PolyPhen 2 Score 0.400 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000120661
Gene: ENSMUSG00000035642
AA Change: V22A

Domain	Start	End	E-Value	Type
Pfam:DUF498	2	49	8.5e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000126085

SMART Domains

Protein: ENSMUSP00000120089
Gene: ENSMUSG00000035642

Domain	Start	End	E-Value	Type
low complexity region	6	15	N/A	INTRINSIC
SCOP:d1uroa_	21	60	2e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000135998
AA Change: V120A

PolyPhen 2 Score 0.451 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000118391
Gene: ENSMUSG00000035642
AA Change: V120A

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:DUF498	34	128	4.8e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000136757
AA Change: V92A

PolyPhen 2 Score 0.400 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000121940
Gene: ENSMUSG00000035642
AA Change: V92A

Domain	Start	End	E-Value	Type
Pfam:DUF498	6	119	2.1e-28	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000138060
AA Change: V60A

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000116214
Gene: ENSMUSG00000035642
AA Change: V60A

Domain	Start	End	E-Value	Type
Pfam:DUF498	40	87	1.7e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000154853
AA Change: V120A

PolyPhen 2 Score 0.451 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000115672
Gene: ENSMUSG00000035642
AA Change: V120A

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:DUF498	34	147	9.4e-28	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000144858
AA Change: V38A

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000117205
Gene: ENSMUSG00000035642
AA Change: V38A

Domain	Start	End	E-Value	Type
Pfam:DUF498	11	65	3.8e-13	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000146605
AA Change: V109A

PolyPhen 2 Score 0.656 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000117571
Gene: ENSMUSG00000035642
AA Change: V109A

Domain	Start	End	E-Value	Type
Pfam:DUF498	23	136	3.4e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000151840

SMART Domains

Protein: ENSMUSP00000115852
Gene: ENSMUSG00000035642

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
PDB:2Q4Q\|B	31	75	5e-23	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000154779

SMART Domains

Protein: ENSMUSP00000120195
Gene: ENSMUSG00000035642

Domain	Start	End	E-Value	Type
low complexity region	6	15	N/A	INTRINSIC
transmembrane domain	30	49	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000178078
AA Change: V120A

PolyPhen 2 Score 0.451 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000137067
Gene: ENSMUSG00000035642
AA Change: V120A

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:DUF498	34	147	2.7e-24	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

99% (72/73)

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	T	C	5: 113,332,567 (GRCm39)	D549G	probably benign	Het
Acp2	A	T	2: 91,037,174 (GRCm39)	Q251L	probably benign	Het
AI597479	C	T	1: 43,150,505 (GRCm39)	A205V	possibly damaging	Het
Apob	A	G	12: 8,029,261 (GRCm39)	T44A	possibly damaging	Het
Arhgap18	G	A	10: 26,648,610 (GRCm39)	V11M	probably damaging	Het
Arhgef10l	T	G	4: 140,319,265 (GRCm39)	H156P	probably benign	Het
Aste1	G	A	9: 105,273,880 (GRCm39)	C40Y	probably benign	Het
Ccn2	A	T	10: 24,473,501 (GRCm39)	M347L	possibly damaging	Het
Chd9	G	A	8: 91,725,335 (GRCm39)		probably null	Het
Clec4n	T	A	6: 123,207,662 (GRCm39)	F42L	probably benign	Het
Cngb1	T	C	8: 96,026,350 (GRCm39)	K144E	unknown	Het
Cyp4f17	A	G	17: 32,747,746 (GRCm39)	T485A	probably damaging	Het
Dcaf6	T	A	1: 165,185,052 (GRCm39)	Y480F	probably damaging	Het
Defa30	C	T	8: 21,624,686 (GRCm39)	T3I	probably damaging	Het
Dmxl1	T	A	18: 50,091,477 (GRCm39)	W2854R	probably damaging	Het
Dnah11	G	A	12: 117,884,703 (GRCm39)	T3783I	possibly damaging	Het
Dync1i1	T	A	6: 5,913,443 (GRCm39)	F225L	possibly damaging	Het
Elp6	T	A	9: 110,144,852 (GRCm39)	Y119*	probably null	Het
Enpep	A	T	3: 129,125,529 (GRCm39)	M201K	probably benign	Het
Fam161a	A	T	11: 22,970,661 (GRCm39)	R280W	probably damaging	Het
Fam98a	T	C	17: 75,848,330 (GRCm39)	N128S	possibly damaging	Het
Fpgt	A	T	3: 154,792,934 (GRCm39)	D364E	probably benign	Het
G3bp1	T	A	11: 55,390,439 (GRCm39)	M448K	probably damaging	Het
Gadd45b	T	C	10: 80,766,284 (GRCm39)	M16T	probably benign	Het
Gdi2	A	T	13: 3,614,869 (GRCm39)	I383F	probably benign	Het
H2-T13	T	C	17: 36,391,993 (GRCm39)	T27A	possibly damaging	Het
Igtp	T	G	11: 58,097,026 (GRCm39)	L66V	probably damaging	Het
Kcne4	G	A	1: 78,795,623 (GRCm39)	M90I	probably benign	Het
Lmo7	T	A	14: 102,136,123 (GRCm39)	M732K	probably damaging	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Mast4	T	G	13: 102,917,753 (GRCm39)	S552R	probably damaging	Het
Meak7	G	A	8: 120,498,096 (GRCm39)	A136V	probably benign	Het
Mff	A	T	1: 82,707,007 (GRCm39)	M11L	probably benign	Het
Mterf2	T	C	10: 84,956,327 (GRCm39)	E99G	probably damaging	Het
Myef2l	T	C	3: 10,153,791 (GRCm39)	S187P	probably benign	Het
Myom2	T	A	8: 15,149,210 (GRCm39)	N560K	probably damaging	Het
Nab2	A	G	10: 127,500,580 (GRCm39)	S171P	probably damaging	Het
Nhlrc3	T	C	3: 53,369,190 (GRCm39)	N83S	possibly damaging	Het
Nod2	A	T	8: 89,391,033 (GRCm39)	I447F	probably damaging	Het
Npat	T	A	9: 53,474,456 (GRCm39)	D749E	possibly damaging	Het
Nxph4	A	G	10: 127,362,631 (GRCm39)	S87P	probably benign	Het
Or2y1f	T	A	11: 49,184,902 (GRCm39)	Y251*	probably null	Het
Or51i2	G	T	7: 103,689,273 (GRCm39)	R90L	possibly damaging	Het
Or5d47	G	A	2: 87,804,526 (GRCm39)	T161M	possibly damaging	Het
Or6c6	T	A	10: 129,186,989 (GRCm39)	S186T	probably damaging	Het
Or9q2	T	A	19: 13,772,214 (GRCm39)	T254S	probably damaging	Het
Pcdha3	G	A	18: 37,079,353 (GRCm39)	V32I	probably benign	Het
Pcdhgc3	A	T	18: 37,939,691 (GRCm39)	T31S	probably benign	Het
Phldb3	A	G	7: 24,323,297 (GRCm39)	R391G	probably damaging	Het
Piezo1	A	G	8: 123,228,604 (GRCm39)	V257A		Het
Pip5k1b	T	A	19: 24,416,442 (GRCm39)	Q15L	probably benign	Het
Plxnc1	T	C	10: 94,649,093 (GRCm39)	N1229D	probably benign	Het
Ptpn12	A	G	5: 21,224,212 (GRCm39)	V127A	probably benign	Het
Ptprr	T	A	10: 116,109,724 (GRCm39)	V655D	probably benign	Het
Rbbp8	A	G	18: 11,838,888 (GRCm39)	T190A	probably benign	Het
Rnf17	T	A	14: 56,719,579 (GRCm39)	V943E	probably damaging	Het
Rnpc3	C	T	3: 113,404,913 (GRCm39)	G414D	probably damaging	Het
Robo4	T	A	9: 37,316,158 (GRCm39)	N387K	probably damaging	Het
Sall4	G	A	2: 168,597,781 (GRCm39)	T353M	probably damaging	Het
Serpinb13	T	C	1: 106,909,997 (GRCm39)	I38T	probably damaging	Het
Sgsm1	A	T	5: 113,422,139 (GRCm39)	I218N	unknown	Het
Sntg2	T	A	12: 30,293,343 (GRCm39)		probably null	Het
Taf1c	G	A	8: 120,325,393 (GRCm39)	S823F	probably damaging	Het
Timd6	T	A	11: 46,468,246 (GRCm39)	C107S	probably damaging	Het
Trhde	T	G	10: 114,244,598 (GRCm39)	I963L	probably damaging	Het
Trim43b	T	C	9: 88,967,619 (GRCm39)	Y339C	probably damaging	Het
Trp53	T	A	11: 69,480,537 (GRCm39)		probably null	Het
Tubg2	T	C	11: 101,051,621 (GRCm39)	V282A	probably benign	Het
Ube2g1	C	T	11: 72,553,943 (GRCm39)		probably benign	Het
Usp34	C	A	11: 23,437,203 (GRCm39)	A3341E		Het
Vmn2r12	T	A	5: 109,233,986 (GRCm39)	H742L	probably damaging	Het
Vmn2r24	T	C	6: 123,792,542 (GRCm39)	V623A	probably damaging	Het
Vmn2r5	A	T	3: 64,411,316 (GRCm39)	D417E	probably damaging	Het
Vmn2r-ps158	C	T	7: 42,673,499 (GRCm39)	P193S	possibly damaging	Het
Xirp2	A	T	2: 67,342,118 (GRCm39)	D1453V	probably damaging	Het
Zfp2	T	C	11: 50,791,042 (GRCm39)	S334G	probably damaging	Het

Other mutations in Aamdc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R3081:Aamdc	UTSW	7	97,214,432 (GRCm39)	missense	probably benign	0.01
R4832:Aamdc	UTSW	7	97,199,773 (GRCm39)	splice site	probably null
R8060:Aamdc	UTSW	7	97,224,855 (GRCm39)	nonsense	probably null
R8070:Aamdc	UTSW	7	97,224,855 (GRCm39)	nonsense	probably null
R8139:Aamdc	UTSW	7	97,214,450 (GRCm39)	missense	probably benign	0.02
R9283:Aamdc	UTSW	7	97,199,842 (GRCm39)	missense	probably benign	0.02
R9515:Aamdc	UTSW	7	97,224,808 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TACACAGTGGAGGCTGATGTG -3'
(R):5'- ACCTCACAGGCTCTTCTGAAAC -3'

Sequencing Primer
(F):5'- TGTGGAGACTGGTAAGACAGCC -3'
(R):5'- GGCTCTTCTGAAACTCACCAGG -3'

Posted On

2022-04-18