Mutagenetix > Incidental Mutation

Incidental Mutation 'R7887:Mpnd'

609139

Institutional Source

Beutler Lab

Gene Symbol

Mpnd

Ensembl Gene

ENSMUSG00000003199

Gene Name

MPN domain containing

Synonyms

E130307M08Rik

MMRRC Submission

045939-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.197) question?

Stock #

R7887 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56316201-56323790 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 56318097 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 204 (G204D)

Ref Sequence

ENSEMBL: ENSMUSP00000119745 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000133998] [ENSMUST00000149441] [ENSMUST00000159996] [ENSMUST00000162883]

AlphaFold

Q3TV65

Predicted Effect

probably benign
Transcript: ENSMUST00000133998
AA Change: G120D

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000122480
Gene: ENSMUSG00000003199
AA Change: G120D

Domain	Start	End	E-Value	Type
low complexity region	88	101	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000149441
AA Change: G204D

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000119745
Gene: ENSMUSG00000003199
AA Change: G204D

Domain	Start	End	E-Value	Type
low complexity region	13	30	N/A	INTRINSIC
low complexity region	32	71	N/A	INTRINSIC
low complexity region	172	185	N/A	INTRINSIC
JAB_MPN	260	382	1.35e-1	SMART

Predicted Effect

SMART Domains

Protein: ENSMUSP00000125535
Gene: ENSMUSG00000003199
AA Change: G61D

Domain	Start	End	E-Value	Type
low complexity region	30	43	N/A	INTRINSIC
Pfam:JAB	112	243	6.1e-11	PFAM
Pfam:Prok-JAB	125	258	1.2e-9	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000125555
Gene: ENSMUSG00000003199
AA Change: G200D

Domain	Start	End	E-Value	Type
low complexity region	10	27	N/A	INTRINSIC
low complexity region	29	68	N/A	INTRINSIC
low complexity region	169	182	N/A	INTRINSIC
Blast:JAB_MPN	257	350	3e-55	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000159996
AA Change: G204D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000124644
Gene: ENSMUSG00000003199
AA Change: G204D

Domain	Start	End	E-Value	Type
low complexity region	13	30	N/A	INTRINSIC
low complexity region	32	71	N/A	INTRINSIC
low complexity region	172	185	N/A	INTRINSIC
JAB_MPN	260	382	1.35e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000162883
AA Change: G204D

PolyPhen 2 Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000124128
Gene: ENSMUSG00000003199
AA Change: G204D

Domain	Start	End	E-Value	Type
low complexity region	13	30	N/A	INTRINSIC
low complexity region	32	71	N/A	INTRINSIC
low complexity region	172	185	N/A	INTRINSIC
Pfam:Prok-JAB	230	340	1.6e-8	PFAM
Pfam:JAB	236	311	1.7e-9	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (48/49)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alkbh8	T	A	9: 3,385,343 (GRCm39)	I580N	probably damaging	Het
Ankrd35	C	T	3: 96,592,216 (GRCm39)	T834M	probably damaging	Het
Astn2	C	T	4: 65,563,103 (GRCm39)	V893I	possibly damaging	Het
B4galt1	A	G	4: 40,823,501 (GRCm39)	Y197H	probably benign	Het
Brdt	T	C	5: 107,507,799 (GRCm39)	S676P	possibly damaging	Het
Chrdl2	T	C	7: 99,678,457 (GRCm39)	V343A	possibly damaging	Het
Clcn3	A	T	8: 61,394,433 (GRCm39)	M59K	probably benign	Het
Cpne4	A	T	9: 104,909,990 (GRCm39)	N529I	probably damaging	Het
Crcp	G	T	5: 130,066,711 (GRCm39)	K32N	possibly damaging	Het
Ddx54	C	T	5: 120,765,268 (GRCm39)	R846C	probably damaging	Het
Dennd6a	T	C	14: 26,320,812 (GRCm39)	S118P	possibly damaging	Het
Egr3	A	G	14: 70,316,651 (GRCm39)	Y116C	probably damaging	Het
Fbxw25	A	G	9: 109,478,662 (GRCm39)		probably null	Het
Focad	T	G	4: 88,100,853 (GRCm39)	I313M	probably damaging	Het
Gm10272	C	T	10: 77,542,779 (GRCm39)	P107L	probably benign	Het
Gpr26	A	C	7: 131,568,702 (GRCm39)	I16L	probably benign	Het
Gpr39	C	A	1: 125,605,279 (GRCm39)	T69K	probably damaging	Het
Hacl1	C	T	14: 31,356,184 (GRCm39)	G97S	probably damaging	Het
Idh3b	A	C	2: 130,123,678 (GRCm39)	D136E	probably damaging	Het
Irf6	G	A	1: 192,850,040 (GRCm39)	V321M	probably damaging	Het
Klrg2	T	A	6: 38,613,506 (GRCm39)	T166S	probably damaging	Het
Lnx2	T	C	5: 146,955,853 (GRCm39)	I648V	probably damaging	Het
Mecr	A	G	4: 131,588,177 (GRCm39)		probably null	Het
Mnat1	T	A	12: 73,234,965 (GRCm39)	S205T	probably benign	Het
Myh7	C	T	14: 55,221,119 (GRCm39)	E935K	possibly damaging	Het
Nid1	G	T	13: 13,674,318 (GRCm39)	R899L	possibly damaging	Het
Nisch	C	T	14: 30,898,652 (GRCm39)	W664*	probably null	Het
Nudt6	C	T	3: 37,466,529 (GRCm39)	V157I	possibly damaging	Het
Onecut2	T	A	18: 64,474,046 (GRCm39)	M180K	possibly damaging	Het
Or51h7	A	C	7: 102,591,358 (GRCm39)	L142R	possibly damaging	Het
Or5l13	T	C	2: 87,780,224 (GRCm39)	M118V	probably damaging	Het
Or8g31-ps1	A	T	9: 39,276,175 (GRCm39)	M107L	unknown	Het
Parg	T	A	14: 31,939,619 (GRCm39)	D548E	possibly damaging	Het
Pclo	GTCTAT	GTCTATTCTAT	5: 14,764,204 (GRCm39)		probably null	Het
Phf11d	A	G	14: 59,597,029 (GRCm39)	Y57H	probably damaging	Het
Prkaca	T	C	8: 84,713,524 (GRCm39)	V99A	probably benign	Het
Rnf144b	T	A	13: 47,393,287 (GRCm39)	C209S	probably damaging	Het
Scly	G	A	1: 91,228,363 (GRCm39)		probably null	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,957,756 (GRCm39)		probably benign	Het
Sphkap	T	C	1: 83,255,133 (GRCm39)	Y872C	probably benign	Het
Ssh1	C	T	5: 114,099,410 (GRCm39)		probably null	Het
Strap	T	G	6: 137,716,807 (GRCm39)	L129V	possibly damaging	Het
Sympk	T	C	7: 18,768,364 (GRCm39)	I111T	possibly damaging	Het
Tprn	C	A	2: 25,154,024 (GRCm39)	A442E	probably damaging	Het
Tsen34	T	C	7: 3,697,707 (GRCm39)	L36P	probably damaging	Het
Ubr4	T	C	4: 139,135,121 (GRCm39)	F818L	probably damaging	Het
Uggt1	T	C	1: 36,247,115 (GRCm39)	Y294C	probably damaging	Het
Usp20	A	G	2: 30,910,906 (GRCm39)	K862E	probably benign	Het
Vmn1r201	A	T	13: 22,658,956 (GRCm39)	I57F	probably damaging	Het
Wdr64	C	T	1: 175,613,111 (GRCm39)	A662V	not run	Het

Other mutations in Mpnd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1673:Mpnd	UTSW	17	56,317,455 (GRCm39)	missense	probably damaging	0.98
R1939:Mpnd	UTSW	17	56,322,920 (GRCm39)	missense	probably damaging	1.00
R2182:Mpnd	UTSW	17	56,322,964 (GRCm39)	missense	probably benign	0.16
R3847:Mpnd	UTSW	17	56,318,692 (GRCm39)	missense	probably damaging	1.00
R3849:Mpnd	UTSW	17	56,318,692 (GRCm39)	missense	probably damaging	1.00
R4888:Mpnd	UTSW	17	56,318,641 (GRCm39)	missense	probably benign
R4931:Mpnd	UTSW	17	56,319,362 (GRCm39)	intron	probably benign
R4947:Mpnd	UTSW	17	56,317,268 (GRCm39)	splice site	probably benign
R6191:Mpnd	UTSW	17	56,319,482 (GRCm39)	missense	possibly damaging	0.90
R6478:Mpnd	UTSW	17	56,316,575 (GRCm39)	missense	probably damaging	1.00
R7086:Mpnd	UTSW	17	56,316,457 (GRCm39)	missense	possibly damaging	0.73
R7544:Mpnd	UTSW	17	56,318,666 (GRCm39)	missense	probably benign	0.03
R7654:Mpnd	UTSW	17	56,317,489 (GRCm39)	missense	probably benign	0.02
R8278:Mpnd	UTSW	17	56,319,469 (GRCm39)	missense	probably benign	0.00
R8393:Mpnd	UTSW	17	56,323,568 (GRCm39)	missense	probably damaging	0.99
R8434:Mpnd	UTSW	17	56,316,405 (GRCm39)	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- AGACAGGCTGAATCCCAAGC -3'
(R):5'- GAGAAGTCACTGTAAGCCCTCTG -3'

Sequencing Primer
(F):5'- AATGGCACCTCGGGCTCAAG -3'
(R):5'- TAGCACTCAGAGGATGCATCTCTG -3'

Posted On

2019-12-20