Mutagenetix > Incidental Mutation

Incidental Mutation 'R9440:Mamdc4'

713564

Institutional Source

Beutler Lab

Gene Symbol

Mamdc4

Ensembl Gene

ENSMUSG00000026941

Gene Name

MAM domain containing 4

Synonyms

LOC381352

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R9440 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

25563115-25574845 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25565588 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 876 (V876A)

Ref Sequence

ENSEMBL: ENSMUSP00000092735 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015236] [ENSMUST00000095117] [ENSMUST00000114223]

AlphaFold

A2AJA7

Predicted Effect

probably benign
Transcript: ENSMUST00000015236

SMART Domains

Protein: ENSMUSP00000015236
Gene: ENSMUSG00000015092

Domain	Start	End	E-Value	Type
Pfam:MBF1	4	73	4.6e-29	PFAM
HTH_XRE	80	135	1.02e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000095117
AA Change: V876A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000092735
Gene: ENSMUSG00000026941
AA Change: V876A

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
LDLa	32	58	7.33e-1	SMART
MAM	66	227	3.56e-52	SMART
LDLa	233	272	3.5e-9	SMART
MAM	254	430	3.87e-53	SMART
LDLa	461	497	2.63e-4	SMART
MAM	493	653	5.33e-5	SMART
MAM	660	819	3.68e-68	SMART
MAM	820	979	1.07e-28	SMART
MAM	980	1148	2.07e-62	SMART
transmembrane domain	1165	1187	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114223
AA Change: V872A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000109861
Gene: ENSMUSG00000026941
AA Change: V872A

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
LDLa	28	54	7.33e-1	SMART
MAM	62	223	3.56e-52	SMART
LDLa	229	268	3.5e-9	SMART
MAM	250	426	3.87e-53	SMART
LDLa	457	493	2.63e-4	SMART
MAM	489	649	5.33e-5	SMART
MAM	656	815	3.68e-68	SMART
MAM	816	975	1.07e-28	SMART
MAM	976	1144	2.07e-62	SMART
transmembrane domain	1161	1183	N/A	INTRINSIC

Predicted Effect

SMART Domains

Protein: ENSMUSP00000119789
Gene: ENSMUSG00000026941
AA Change: V773A

Domain	Start	End	E-Value	Type
LDLa	9	35	7.33e-1	SMART
MAM	43	204	3.56e-52	SMART
LDLa	210	249	3.5e-9	SMART
MAM	231	407	3.87e-53	SMART
LDLa	438	474	2.63e-4	SMART
MAM	558	717	2.27e-68	SMART
MAM	718	877	1.07e-28	SMART
MAM	878	1046	2.07e-62	SMART
transmembrane domain	1063	1085	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110004E09Rik	A	T	16: 90,929,944	V116E	probably benign	Het
Abca17	G	A	17: 24,280,478	T1359M	probably benign	Het
Acacb	T	A	5: 114,246,024	C2205S	possibly damaging	Het
Akap3	A	G	6: 126,864,628	E70G	probably benign	Het
Aldh1a3	C	A	7: 66,419,244		probably null	Het
Asb4	A	G	6: 5,429,817	I352M	probably benign	Het
Bach1	C	G	16: 87,719,715	S381R	probably benign	Het
BC034090	A	G	1: 155,226,215	L101P	probably benign	Het
Bms1	A	T	6: 118,405,256	D440E	probably benign	Het
Bpifb6	A	T	2: 153,905,994	D191V	probably benign	Het
Cfd	T	C	10: 79,890,982		probably null	Het
Cnot3	G	A	7: 3,653,561	E252K	probably damaging	Het
Col6a3	T	C	1: 90,779,346	D2622G	unknown	Het
Crybg2	T	C	4: 134,074,291	S612P	probably benign	Het
Cyp4b1	T	C	4: 115,636,384	K167R	probably damaging	Het
Gbp3	T	C	3: 142,566,574	V279A	possibly damaging	Het
Gipc2	T	C	3: 152,128,069	T192A	possibly damaging	Het
Gm3285	T	C	10: 77,862,077	V20A		Het
Gm35339	T	C	15: 76,360,864	S1176P		Het
Gorasp2	T	C	2: 70,711,125		probably null	Het
Gpr179	A	G	11: 97,338,489	S947P	probably benign	Het
Klra5	C	A	6: 129,906,723	W147L	possibly damaging	Het
Lrch4	G	A	5: 137,637,789	R368Q	probably damaging	Het
Marf1	A	C	16: 14,120,332	D1433E	probably benign	Het
Mcm4	A	T	16: 15,635,311	C171*	probably null	Het
Micall1	C	T	15: 79,126,959	P510S		Het
Morc3	A	G	16: 93,853,087		probably null	Het
Mrpl28	G	T	17: 26,126,292	V229F	possibly damaging	Het
Mrps33	A	T	6: 39,805,430	Y52*	probably null	Het
Mybphl	T	C	3: 108,374,886	I144T	probably benign	Het
Myom1	A	G	17: 71,126,334	M1657V	probably benign	Het
Ogfr	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	2: 180,595,057		probably benign	Het
Olfr492	A	G	7: 108,322,830	I282T	probably benign	Het
Peg10	T	TCCG	6: 4,756,451		probably benign	Het
Plxna1	T	C	6: 89,341,930	K637R	probably benign	Het
Prob1	G	T	18: 35,653,165	L679I	possibly damaging	Het
Sgms2	C	A	3: 131,325,069	C255F	probably damaging	Het
Slc17a9	T	C	2: 180,741,297	C399R	probably benign	Het
Smc4	T	A	3: 69,008,122		probably null	Het
St14	A	G	9: 31,096,549	L578P	probably damaging	Het
Tcaf3	A	T	6: 42,596,972	L102*	probably null	Het
Tex15	A	G	8: 33,582,245	T2607A	possibly damaging	Het
Trav15-2-dv6-2	T	A	14: 53,649,475		probably benign	Het
Trip4	T	C	9: 65,852,952		probably null	Het
Ttf1	A	G	2: 29,065,697	I358V	probably benign	Het
Uroc1	C	A	6: 90,345,371	S292R	possibly damaging	Het
Vmn1r5	T	C	6: 56,985,430	I30T	possibly damaging	Het
Vps33a	A	T	5: 123,564,984	I192N	probably damaging	Het
Vps50	A	G	6: 3,516,724	I69V	probably benign	Het
Xirp1	G	A	9: 120,018,137	T560M	probably damaging	Het
Zfp512	A	T	5: 31,471,015	T266S	possibly damaging	Het

Other mutations in Mamdc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01304:Mamdc4	APN	2	25563576	missense	possibly damaging	0.53
IGL01994:Mamdc4	APN	2	25568534	missense	possibly damaging	0.64
IGL02072:Mamdc4	APN	2	25568339	missense	probably damaging	1.00
IGL02193:Mamdc4	APN	2	25564446	missense	probably benign	0.02
IGL02673:Mamdc4	APN	2	25570054	missense	probably benign
IGL03048:Mamdc4	UTSW	2	25569072	missense	possibly damaging	0.67
R0135:Mamdc4	UTSW	2	25566920	missense	possibly damaging	0.71
R0481:Mamdc4	UTSW	2	25571216	start codon destroyed	probably null	0.08
R0490:Mamdc4	UTSW	2	25563581	missense	probably benign	0.01
R0609:Mamdc4	UTSW	2	25564193	missense	probably benign	0.30
R0729:Mamdc4	UTSW	2	25570036	missense	probably damaging	0.98
R1365:Mamdc4	UTSW	2	25566024	missense	probably damaging	1.00
R1533:Mamdc4	UTSW	2	25569747	missense	possibly damaging	0.71
R1671:Mamdc4	UTSW	2	25568223	nonsense	probably null
R1789:Mamdc4	UTSW	2	25567622	missense	possibly damaging	0.59
R2002:Mamdc4	UTSW	2	25567232	missense	probably damaging	1.00
R2013:Mamdc4	UTSW	2	25563572	missense	probably damaging	0.98
R2014:Mamdc4	UTSW	2	25563572	missense	probably damaging	0.98
R2056:Mamdc4	UTSW	2	25564168	missense	probably benign	0.18
R2109:Mamdc4	UTSW	2	25569390	missense	probably damaging	1.00
R2128:Mamdc4	UTSW	2	25569258	missense	probably damaging	1.00
R2185:Mamdc4	UTSW	2	25569692	critical splice donor site	probably null
R2473:Mamdc4	UTSW	2	25566332	missense	probably damaging	0.99
R2496:Mamdc4	UTSW	2	25565902	missense	probably damaging	1.00
R3818:Mamdc4	UTSW	2	25565773	missense	probably benign
R4591:Mamdc4	UTSW	2	25564597	missense	possibly damaging	0.87
R4829:Mamdc4	UTSW	2	25565356	missense	possibly damaging	0.85
R4898:Mamdc4	UTSW	2	25570023	missense	probably damaging	0.98
R5209:Mamdc4	UTSW	2	25566923	missense	probably damaging	0.97
R5268:Mamdc4	UTSW	2	25564690	missense	possibly damaging	0.95
R5490:Mamdc4	UTSW	2	25565878	missense	probably damaging	1.00
R6152:Mamdc4	UTSW	2	25567439	missense	probably damaging	1.00
R6234:Mamdc4	UTSW	2	25570080	missense	probably damaging	1.00
R6681:Mamdc4	UTSW	2	25567744	missense	probably damaging	1.00
R6774:Mamdc4	UTSW	2	25566936	missense	probably benign	0.06
R7178:Mamdc4	UTSW	2	25568965	missense	probably benign	0.04
R7225:Mamdc4	UTSW	2	25565546	missense	possibly damaging	0.50
R7451:Mamdc4	UTSW	2	25564461	missense	possibly damaging	0.80
R7520:Mamdc4	UTSW	2	25565348	missense	possibly damaging	0.88
R7627:Mamdc4	UTSW	2	25568213	missense	probably damaging	1.00
R7875:Mamdc4	UTSW	2	25568665	nonsense	probably null
R8041:Mamdc4	UTSW	2	25564695	missense	probably damaging	1.00
R8144:Mamdc4	UTSW	2	25567007	missense	probably damaging	0.99
R8201:Mamdc4	UTSW	2	25566081	missense	probably damaging	1.00
R8213:Mamdc4	UTSW	2	25566356	missense	probably benign	0.17
R8531:Mamdc4	UTSW	2	25567718	missense	possibly damaging	0.56
R8810:Mamdc4	UTSW	2	25568489	missense	probably benign	0.01
R9069:Mamdc4	UTSW	2	25563359	missense	probably damaging	1.00
R9446:Mamdc4	UTSW	2	25563633	missense	probably benign
R9486:Mamdc4	UTSW	2	25565152	missense	probably benign	0.00
R9551:Mamdc4	UTSW	2	25570023	missense	probably damaging	0.98
R9626:Mamdc4	UTSW	2	25568261	missense	probably damaging	1.00
X0022:Mamdc4	UTSW	2	25570192	missense	probably damaging	1.00
X0025:Mamdc4	UTSW	2	25564686	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- ATTCACTGCCCTGGTAGCTC -3'
(R):5'- AAGACTCTGACTGTGGCTTC -3'

Sequencing Primer
(F):5'- TGGTAGCTCCCAGTCCTG -3'
(R):5'- GCACCAGAGTAATGCCTCAGG -3'

Posted On

2022-06-15