Mutagenetix > Incidental Mutation

Incidental Mutation 'R0135:Mamdc4'

21855

Institutional Source

Beutler Lab

Gene Symbol

Mamdc4

Ensembl Gene

ENSMUSG00000026941

Gene Name

MAM domain containing 4

Synonyms

LOC381352

MMRRC Submission

038420-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R0135 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25453124-25461328 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 25456932 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 615 (R615Q)

Ref Sequence

ENSEMBL: ENSMUSP00000109861 (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: R619Q

PolyPhen 2 Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000092735
Gene: ENSMUSG00000026941
AA Change: R619Q

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: R615Q

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000109861
Gene: ENSMUSG00000026941
AA Change: R615Q

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

noncoding transcript
Transcript: ENSMUST00000135288

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142288

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142811

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152124

Predicted Effect

probably benign
Transcript: ENSMUST00000152237

SMART Domains

Protein: ENSMUSP00000119789
Gene: ENSMUSG00000026941

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.5%
20x: 93.6%

Validation Efficiency

100% (80/80)

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438H23Rik	A	G	16: 90,852,515 (GRCm39)	F207S	probably damaging	Het
Abhd8	T	A	8: 71,910,718 (GRCm39)	K363N	probably benign	Het
Adam11	T	A	11: 102,667,399 (GRCm39)	V653E	probably damaging	Het
Adam18	T	C	8: 25,155,558 (GRCm39)	S154G	possibly damaging	Het
Adamts1	T	C	16: 85,595,591 (GRCm39)		probably benign	Het
Afm	G	T	5: 90,698,181 (GRCm39)	V528L	probably benign	Het
Alox12b	C	T	11: 69,053,574 (GRCm39)	H145Y	probably benign	Het
Ankmy2	C	A	12: 36,220,434 (GRCm39)		probably benign	Het
Aox3	G	A	1: 58,164,247 (GRCm39)		probably benign	Het
Arhgap28	T	C	17: 68,171,583 (GRCm39)	D396G	probably damaging	Het
B430203G13Rik	T	C	12: 17,974,489 (GRCm39)		noncoding transcript	Het
Bean1	C	T	8: 104,943,807 (GRCm39)	P121S	probably damaging	Het
Bok	T	C	1: 93,614,229 (GRCm39)	S21P	probably damaging	Het
Brwd1	A	C	16: 95,848,304 (GRCm39)	N572K	probably damaging	Het
C5ar1	A	T	7: 15,982,864 (GRCm39)	V52E	probably damaging	Het
Cblif	G	T	19: 11,735,118 (GRCm39)	C246F	probably damaging	Het
Cdr2l	C	A	11: 115,284,497 (GRCm39)	P278T	probably damaging	Het
Cnga4	T	A	7: 105,056,055 (GRCm39)	I219N	probably damaging	Het
Cpne2	C	T	8: 95,281,553 (GRCm39)		probably benign	Het
D430041D05Rik	A	G	2: 104,085,379 (GRCm39)	S1057P	possibly damaging	Het
Def8	G	A	8: 124,183,234 (GRCm39)	A278T	probably damaging	Het
Dgcr2	A	G	16: 17,676,306 (GRCm39)	S152P	probably damaging	Het
Dstyk	A	T	1: 132,390,672 (GRCm39)	D828V	probably damaging	Het
Eml2	T	C	7: 18,937,877 (GRCm39)	S582P	probably damaging	Het
Engase	T	C	11: 118,375,304 (GRCm39)	Y359H	possibly damaging	Het
Fat3	T	C	9: 15,918,073 (GRCm39)	D1450G	probably damaging	Het
Fbxw8	A	T	5: 118,208,552 (GRCm39)	I467N	probably damaging	Het
Fhdc1	A	T	3: 84,352,925 (GRCm39)	Y767N	probably damaging	Het
Flii	T	C	11: 60,614,204 (GRCm39)	D105G	probably damaging	Het
Gaa	C	T	11: 119,169,716 (GRCm39)	T590I	probably benign	Het
Gabrr1	T	A	4: 33,160,224 (GRCm39)	S303T	probably damaging	Het
Garre1	T	C	7: 33,945,382 (GRCm39)	I499M	probably damaging	Het
Glp1r	A	G	17: 31,143,551 (GRCm39)	I196V	probably benign	Het
Grm6	G	A	11: 50,744,050 (GRCm39)	E174K	probably damaging	Het
Helz2	A	C	2: 180,874,062 (GRCm39)	L2144R	probably damaging	Het
Itpr1	A	T	6: 108,465,443 (GRCm39)		probably benign	Het
Kcns1	A	T	2: 164,006,875 (GRCm39)	S363T	possibly damaging	Het
Kif13a	A	T	13: 46,947,419 (GRCm39)	V855E	probably damaging	Het
Krt42	T	C	11: 100,153,985 (GRCm39)	T424A	possibly damaging	Het
Lct	A	T	1: 128,212,860 (GRCm39)	F1931Y	probably damaging	Het
Lrp1b	A	T	2: 41,159,251 (GRCm39)	V1563E	probably damaging	Het
Lrrc37	C	A	11: 103,508,873 (GRCm39)		probably benign	Het
Lzts2	T	C	19: 45,014,626 (GRCm39)		probably benign	Het
Mei1	C	T	15: 81,956,170 (GRCm39)	Q133*	probably null	Het
Mif4gd	T	C	11: 115,499,291 (GRCm39)	E197G	probably damaging	Het
Ncdn	A	T	4: 126,640,462 (GRCm39)	S544T	probably benign	Het
Nfat5	C	T	8: 108,065,707 (GRCm39)	R156W	probably damaging	Het
Or52a5	T	A	7: 103,426,970 (GRCm39)	D194V	probably damaging	Het
Padi6	T	C	4: 140,464,663 (GRCm39)	T114A	probably benign	Het
Pigk	G	T	3: 152,450,343 (GRCm39)		probably benign	Het
Pkd1	T	A	17: 24,784,045 (GRCm39)	F197Y	possibly damaging	Het
Pld5	A	T	1: 175,798,155 (GRCm39)	F415I	probably damaging	Het
Pnpla5	A	G	15: 83,998,150 (GRCm39)	L364P	probably damaging	Het
Prrc2c	G	A	1: 162,543,052 (GRCm39)		probably benign	Het
Rab32	C	T	10: 10,426,584 (GRCm39)	D121N	probably damaging	Het
Rab44	A	T	17: 29,357,106 (GRCm39)	T79S	probably benign	Het
Reln	G	T	5: 22,333,647 (GRCm39)	N258K	probably damaging	Het
Retsat	A	G	6: 72,579,755 (GRCm39)	T177A	probably damaging	Het
Serpinf2	T	A	11: 75,327,219 (GRCm39)	H236L	probably damaging	Het
Slc26a6	A	T	9: 108,737,794 (GRCm39)		probably benign	Het
Slitrk1	T	A	14: 109,149,061 (GRCm39)	E550V	probably benign	Het
Smarcd3	A	T	5: 24,800,497 (GRCm39)		probably benign	Het
Spdye4a	A	C	5: 143,210,857 (GRCm39)		probably null	Het
Susd2	C	T	10: 75,474,348 (GRCm39)	G572D	probably damaging	Het
Tcaf3	C	T	6: 42,566,692 (GRCm39)	R799K	probably benign	Het
Tg	A	G	15: 66,566,719 (GRCm39)	S1256G	probably benign	Het
Them4	A	T	3: 94,230,877 (GRCm39)		probably benign	Het
Tmem210	C	T	2: 25,178,480 (GRCm39)	A47V	probably damaging	Het
Tnfrsf1b	A	G	4: 144,955,616 (GRCm39)	Y47H	probably benign	Het
Tnik	T	G	3: 28,661,394 (GRCm39)	N598K	possibly damaging	Het
Ttc3	A	G	16: 94,263,127 (GRCm39)	N1498D	possibly damaging	Het
Ttll4	C	A	1: 74,719,087 (GRCm39)	H313N	possibly damaging	Het
Vipr2	A	G	12: 116,106,447 (GRCm39)	I348V	probably benign	Het
Vps13a	A	G	19: 16,758,129 (GRCm39)	V2A	probably damaging	Het
Vps72	G	A	3: 95,026,508 (GRCm39)	R151K	probably damaging	Het
Zfp106	A	G	2: 120,350,968 (GRCm39)	V1561A	probably damaging	Het
Zfp658	C	A	7: 43,223,019 (GRCm39)	Y431*	probably null	Het
Zkscan2	T	C	7: 123,079,864 (GRCm39)	K698E	possibly damaging	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
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
R7451:Mamdc4	UTSW	2	25,454,473 (GRCm39)	missense	possibly damaging	0.80
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'- GCAGGAGTCCCGTTCAAAGTTACAG -3'
(R):5'- AAGGTATTACACGTCCCTGGTCCC -3'

Sequencing Primer
(F):5'- CAGAGAAACCTTGGTCACTTTCAG -3'
(R):5'- TGGTCCCAGTCCCCAGAAG -3'

Posted On

2013-04-12