Mutagenetix > Incidental Mutation

Incidental Mutation 'R7451:Mamdc4'

577689

Institutional Source

Beutler Lab

Gene Symbol

Mamdc4

Ensembl Gene

ENSMUSG00000026941

Gene Name

MAM domain containing 4

Synonyms

LOC381352

MMRRC Submission

045525-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R7451 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25453124-25461328 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25454473 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1081 (V1081A)

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

possibly damaging
Transcript: ENSMUST00000095117
AA Change: V1081A

PolyPhen 2 Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000092735
Gene: ENSMUSG00000026941
AA Change: V1081A

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

possibly damaging
Transcript: ENSMUST00000114223
AA Change: V1077A

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

SMART Domains

Protein: ENSMUSP00000109861
Gene: ENSMUSG00000026941
AA Change: V1077A

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: V978A

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: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (84/84)

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb6	A	G	1: 75,148,797 (GRCm39)	I794T	probably damaging	Het
Abcc5	T	A	16: 20,193,820 (GRCm39)	H767L	probably damaging	Het
Adgrb2	A	T	4: 129,908,350 (GRCm39)	M1031L	probably damaging	Het
Akna	T	A	4: 63,296,904 (GRCm39)	M891L	probably benign	Het
Aloxe3	C	A	11: 69,033,746 (GRCm39)	T620K	possibly damaging	Het
Amph	A	G	13: 19,261,538 (GRCm39)	Y63C	probably damaging	Het
Asprv1	A	G	6: 86,605,930 (GRCm39)	I259V	probably benign	Het
Atp7b	C	T	8: 22,504,700 (GRCm39)	W652*	probably null	Het
Atp8a2	C	T	14: 60,028,630 (GRCm39)	D946N	probably null	Het
BC024063	T	A	10: 81,944,576 (GRCm39)	N65K	probably benign	Het
Bean1	A	T	8: 104,940,628 (GRCm39)	M154L	probably benign	Het
Bltp1	G	T	3: 37,076,956 (GRCm39)		probably null	Het
Cacna1c	C	T	6: 118,570,981 (GRCm39)	V2181M	unknown	Het
Cacna1g	A	G	11: 94,319,901 (GRCm39)	I1425T	probably damaging	Het
Caskin2	A	G	11: 115,702,981 (GRCm39)		probably benign	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Cfap97d1	A	T	11: 101,882,283 (GRCm39)	N147I	possibly damaging	Het
Cfd	T	A	10: 79,727,362 (GRCm39)	V43E	probably damaging	Het
Chd9	GCCCC	GCCC	8: 91,760,418 (GRCm39)		probably null	Het
Chd9	T	A	8: 91,760,446 (GRCm39)	S2064T	probably benign	Het
Cpsf2	T	G	12: 101,967,051 (GRCm39)	V646G	possibly damaging	Het
Ctif	T	C	18: 75,652,874 (GRCm39)	D461G	possibly damaging	Het
Cyp3a41a	T	A	5: 145,636,550 (GRCm39)	E414D	probably benign	Het
Dagla	A	G	19: 10,230,719 (GRCm39)	V544A	probably damaging	Het
Dhx57	A	T	17: 80,554,542 (GRCm39)	V1228E	probably damaging	Het
Eif2b3	T	A	4: 116,909,993 (GRCm39)	L176*	probably null	Het
Fbxw26	T	A	9: 109,561,691 (GRCm39)	I168L	probably benign	Het
Flt3	T	A	5: 147,286,477 (GRCm39)	Y703F	probably damaging	Het
Frmpd1	C	T	4: 45,279,558 (GRCm39)	P761L	probably benign	Het
Gabrd	A	G	4: 155,472,916 (GRCm39)	V89A	possibly damaging	Het
Galnt14	A	T	17: 73,881,804 (GRCm39)	H98Q	probably benign	Het
Gli3	T	C	13: 15,900,876 (GRCm39)	V1421A	possibly damaging	Het
Gprin2	A	G	14: 33,917,762 (GRCm39)	S3P	probably damaging	Het
Ifi211	T	G	1: 173,727,058 (GRCm39)	D362A	probably damaging	Het
Lars1	G	T	18: 42,335,615 (GRCm39)	T1167K	probably benign	Het
Lce1b	T	C	3: 92,563,207 (GRCm39)	S109G	unknown	Het
Lrp2	T	G	2: 69,343,677 (GRCm39)	E894A	probably damaging	Het
Mcub	T	C	3: 129,710,752 (GRCm39)	S227G	possibly damaging	Het
Mki67	A	G	7: 135,301,080 (GRCm39)	I1318T	probably benign	Het
Mybl2	C	T	2: 162,914,626 (GRCm39)	T248I	possibly damaging	Het
Myo9b	A	T	8: 71,804,832 (GRCm39)	H1441L	probably benign	Het
Nav2	T	A	7: 49,202,577 (GRCm39)		probably null	Het
Neb	C	T	2: 52,091,466 (GRCm39)	V5339I	probably benign	Het
Nktr	T	A	9: 121,558,722 (GRCm39)	S88T	probably damaging	Het
Nup155	C	T	15: 8,175,091 (GRCm39)	Q963*	probably null	Het
Oas1c	A	C	5: 120,940,207 (GRCm39)	L320V	possibly damaging	Het
Or10ak14	C	T	4: 118,610,884 (GRCm39)	A286T	probably benign	Het
Or10d1b	G	A	9: 39,613,423 (GRCm39)	T214I	probably damaging	Het
Or1o11	C	A	17: 37,757,196 (GRCm39)	S261R	probably damaging	Het
Or2t46	A	G	11: 58,472,516 (GRCm39)	Y282C	probably damaging	Het
Or4a81	A	G	2: 89,619,453 (GRCm39)	M81T	probably benign	Het
Or52b4i	T	C	7: 102,191,461 (GRCm39)	I106T	probably benign	Het
Pcdhga7	A	G	18: 37,849,057 (GRCm39)	S355G	possibly damaging	Het
Pde11a	C	T	2: 75,853,117 (GRCm39)	V834I	possibly damaging	Het
Pdzrn4	A	T	15: 92,667,948 (GRCm39)	D700V	possibly damaging	Het
Pif1	C	A	9: 65,495,630 (GRCm39)	P180Q	probably benign	Het
Pkig	G	T	2: 163,563,083 (GRCm39)	E5*	probably null	Het
Pla2r1	T	A	2: 60,365,346 (GRCm39)	M75L	probably damaging	Het
Pllp	T	C	8: 95,402,871 (GRCm39)	S157G	probably damaging	Het
Ppfia1	A	T	7: 144,061,947 (GRCm39)	H566Q	probably benign	Het
Ptpn13	A	G	5: 103,674,961 (GRCm39)	D646G	probably benign	Het
Rab11fip5	T	A	6: 85,318,538 (GRCm39)	T784S	probably benign	Het
Rad51ap2	T	G	12: 11,507,982 (GRCm39)	S635A	probably benign	Het
Ranbp17	A	T	11: 33,234,114 (GRCm39)		probably null	Het
Rce1	C	T	19: 4,675,081 (GRCm39)	G111D	probably damaging	Het
Rcor3	C	A	1: 191,822,173 (GRCm39)	G8V	probably damaging	Het
Rhox4d	G	A	X: 36,700,645 (GRCm39)	G191E	unknown	Het
Rimbp2	C	T	5: 128,865,435 (GRCm39)	V631I	probably benign	Het
Scai	T	C	2: 39,015,148 (GRCm39)	T94A	probably damaging	Het
Sfmbt1	G	A	14: 30,538,768 (GRCm39)	A796T	probably benign	Het
Slc6a11	C	A	6: 114,222,644 (GRCm39)	Y546*	probably null	Het
Slc7a2	T	C	8: 41,365,686 (GRCm39)	S506P	probably damaging	Het
Synj2	T	A	17: 6,080,066 (GRCm39)	N1098K	possibly damaging	Het
Tmem177	G	A	1: 119,837,971 (GRCm39)	A236V	probably damaging	Het
Togaram1	T	A	12: 65,043,749 (GRCm39)	D1249E	probably damaging	Het
Trav17	A	T	14: 54,044,096 (GRCm39)	M1L	probably damaging	Het
Trim25	C	A	11: 88,906,563 (GRCm39)	A433D	possibly damaging	Het
Trim69	T	C	2: 121,998,508 (GRCm39)	F160S	probably benign	Het
Trio	A	T	15: 27,747,999 (GRCm39)	V1407E	probably benign	Het
Trpm7	A	T	2: 126,668,657 (GRCm39)	M753K	probably damaging	Het
Ttc12	G	T	9: 49,383,179 (GRCm39)	A75E	probably benign	Het
Uchl4	A	T	9: 64,143,013 (GRCm39)	I165L	probably benign	Het
Uvrag	A	T	7: 98,790,120 (GRCm39)	L13Q	unknown	Het
Wwc2	G	A	8: 48,317,610 (GRCm39)	R656W	not run	Het

Other mutations in Mamdc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01304:Mamdc4	APN	2	25,453,588 (GRCm39)	missense	possibly damaging	0.53
IGL01994:Mamdc4	APN	2	25,458,546 (GRCm39)	missense	possibly damaging	0.64
IGL02072:Mamdc4	APN	2	25,458,351 (GRCm39)	missense	probably damaging	1.00
IGL02193:Mamdc4	APN	2	25,454,458 (GRCm39)	missense	probably benign	0.02
IGL02673:Mamdc4	APN	2	25,460,066 (GRCm39)	missense	probably benign
IGL03048:Mamdc4	UTSW	2	25,459,084 (GRCm39)	missense	possibly damaging	0.67
R0135:Mamdc4	UTSW	2	25,456,932 (GRCm39)	missense	possibly damaging	0.71
R0481:Mamdc4	UTSW	2	25,461,228 (GRCm39)	start codon destroyed	probably null	0.08
R0490:Mamdc4	UTSW	2	25,453,593 (GRCm39)	missense	probably benign	0.01
R0609:Mamdc4	UTSW	2	25,454,205 (GRCm39)	missense	probably benign	0.30
R0729:Mamdc4	UTSW	2	25,460,048 (GRCm39)	missense	probably damaging	0.98
R1365:Mamdc4	UTSW	2	25,456,036 (GRCm39)	missense	probably damaging	1.00
R1533:Mamdc4	UTSW	2	25,459,759 (GRCm39)	missense	possibly damaging	0.71
R1671:Mamdc4	UTSW	2	25,458,235 (GRCm39)	nonsense	probably null
R1789:Mamdc4	UTSW	2	25,457,634 (GRCm39)	missense	possibly damaging	0.59
R2002:Mamdc4	UTSW	2	25,457,244 (GRCm39)	missense	probably damaging	1.00
R2013:Mamdc4	UTSW	2	25,453,584 (GRCm39)	missense	probably damaging	0.98
R2014:Mamdc4	UTSW	2	25,453,584 (GRCm39)	missense	probably damaging	0.98
R2056:Mamdc4	UTSW	2	25,454,180 (GRCm39)	missense	probably benign	0.18
R2109:Mamdc4	UTSW	2	25,459,402 (GRCm39)	missense	probably damaging	1.00
R2128:Mamdc4	UTSW	2	25,459,270 (GRCm39)	missense	probably damaging	1.00
R2185:Mamdc4	UTSW	2	25,459,704 (GRCm39)	critical splice donor site	probably null
R2473:Mamdc4	UTSW	2	25,456,344 (GRCm39)	missense	probably damaging	0.99
R2496:Mamdc4	UTSW	2	25,455,914 (GRCm39)	missense	probably damaging	1.00
R3818:Mamdc4	UTSW	2	25,455,785 (GRCm39)	missense	probably benign
R4591:Mamdc4	UTSW	2	25,454,609 (GRCm39)	missense	possibly damaging	0.87
R4829:Mamdc4	UTSW	2	25,455,368 (GRCm39)	missense	possibly damaging	0.85
R4898:Mamdc4	UTSW	2	25,460,035 (GRCm39)	missense	probably damaging	0.98
R5209:Mamdc4	UTSW	2	25,456,935 (GRCm39)	missense	probably damaging	0.97
R5268:Mamdc4	UTSW	2	25,454,702 (GRCm39)	missense	possibly damaging	0.95
R5490:Mamdc4	UTSW	2	25,455,890 (GRCm39)	missense	probably damaging	1.00
R6152:Mamdc4	UTSW	2	25,457,451 (GRCm39)	missense	probably damaging	1.00
R6234:Mamdc4	UTSW	2	25,460,092 (GRCm39)	missense	probably damaging	1.00
R6681:Mamdc4	UTSW	2	25,457,756 (GRCm39)	missense	probably damaging	1.00
R6774:Mamdc4	UTSW	2	25,456,948 (GRCm39)	missense	probably benign	0.06
R7178:Mamdc4	UTSW	2	25,458,977 (GRCm39)	missense	probably benign	0.04
R7225:Mamdc4	UTSW	2	25,455,558 (GRCm39)	missense	possibly damaging	0.50
R7520:Mamdc4	UTSW	2	25,455,360 (GRCm39)	missense	possibly damaging	0.88
R7627:Mamdc4	UTSW	2	25,458,225 (GRCm39)	missense	probably damaging	1.00
R7875:Mamdc4	UTSW	2	25,458,677 (GRCm39)	nonsense	probably null
R8041:Mamdc4	UTSW	2	25,454,707 (GRCm39)	missense	probably damaging	1.00
R8144:Mamdc4	UTSW	2	25,457,019 (GRCm39)	missense	probably damaging	0.99
R8201:Mamdc4	UTSW	2	25,456,093 (GRCm39)	missense	probably damaging	1.00
R8213:Mamdc4	UTSW	2	25,456,368 (GRCm39)	missense	probably benign	0.17
R8531:Mamdc4	UTSW	2	25,457,730 (GRCm39)	missense	possibly damaging	0.56
R8810:Mamdc4	UTSW	2	25,458,501 (GRCm39)	missense	probably benign	0.01
R9069:Mamdc4	UTSW	2	25,453,371 (GRCm39)	missense	probably damaging	1.00
R9440:Mamdc4	UTSW	2	25,455,600 (GRCm39)	missense	probably benign
R9446:Mamdc4	UTSW	2	25,453,645 (GRCm39)	missense	probably benign
R9486:Mamdc4	UTSW	2	25,455,164 (GRCm39)	missense	probably benign	0.00
R9551:Mamdc4	UTSW	2	25,460,035 (GRCm39)	missense	probably damaging	0.98
R9626:Mamdc4	UTSW	2	25,458,273 (GRCm39)	missense	probably damaging	1.00
X0022:Mamdc4	UTSW	2	25,460,204 (GRCm39)	missense	probably damaging	1.00
X0025:Mamdc4	UTSW	2	25,454,698 (GRCm39)	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- CATCATCAATGGCAATGGGC -3'
(R):5'- ACAACAGTCTCATGCCTCCG -3'

Sequencing Primer
(F):5'- GTGGCTTCAAAAACAATCTGACAG -3'
(R):5'- CCGCTTCTGGTACTACATGGG -3'

Posted On

2019-10-07