Mutagenetix > Incidental Mutation

Incidental Mutation 'R2182:Mpnd'

237263

Institutional Source

Beutler Lab

Gene Symbol

Mpnd

Ensembl Gene

ENSMUSG00000003199

Gene Name

MPN domain containing

Synonyms

E130307M08Rik

MMRRC Submission

040184-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.244) question?

Stock #

R2182 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56316201-56323790 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56322964 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 399 (S399G)

Ref Sequence

ENSEMBL: ENSMUSP00000124128 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003268] [ENSMUST00000133998] [ENSMUST00000149441] [ENSMUST00000162883] [ENSMUST00000159996]

AlphaFold

Q3TV65

Predicted Effect

probably benign
Transcript: ENSMUST00000003268

SMART Domains

Protein: ENSMUSP00000003268
Gene: ENSMUSG00000003200

Domain	Start	End	E-Value	Type
BAR	5	242	1.05e-98	SMART
low complexity region	250	264	N/A	INTRINSIC
SH3	309	364	7.62e-22	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124302

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131218

Predicted Effect

probably benign
Transcript: ENSMUST00000133998

SMART Domains

Protein: ENSMUSP00000122480
Gene: ENSMUSG00000003199

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140926

Predicted Effect

probably benign
Transcript: ENSMUST00000149441
AA Change: S449G

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000119745
Gene: ENSMUSG00000003199
AA Change: S449G

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: ENSMUST00000153197

SMART Domains

Protein: ENSMUSP00000125535
Gene: ENSMUSG00000003199

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

probably benign
Transcript: ENSMUST00000162883
AA Change: S399G

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000124128
Gene: ENSMUSG00000003199
AA Change: S399G

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

Predicted Effect

unknown
Transcript: ENSMUST00000159340
AA Change: S416G

SMART Domains

Protein: ENSMUSP00000125555
Gene: ENSMUSG00000003199
AA Change: S416G

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: S419G

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000124644
Gene: ENSMUSG00000003199
AA Change: S419G

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

noncoding transcript
Transcript: ENSMUST00000159420

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	A	G	9: 53,334,243 (GRCm39)	H17R	probably damaging	Het
Abca15	G	A	7: 119,939,450 (GRCm39)	W281*	probably null	Het
Aloxe3	G	A	11: 69,020,426 (GRCm39)	V157M	possibly damaging	Het
Arhgap26	G	T	18: 39,490,862 (GRCm39)		probably benign	Het
Atp7b	T	C	8: 22,504,563 (GRCm39)	N698S	probably damaging	Het
Clec4a4	A	G	6: 122,990,716 (GRCm39)		probably null	Het
Clgn	C	T	8: 84,137,039 (GRCm39)	T252I	possibly damaging	Het
Cyp2a12	A	T	7: 26,730,571 (GRCm39)	N179Y	probably damaging	Het
D630045J12Rik	C	T	6: 38,151,082 (GRCm39)		probably null	Het
Dennd5a	G	T	7: 109,533,201 (GRCm39)	R190S	probably benign	Het
Dtx4	C	A	19: 12,460,471 (GRCm39)	G384V	probably null	Het
Dxo	T	C	17: 35,057,868 (GRCm39)	V191A	probably benign	Het
Eprs1	G	A	1: 185,111,939 (GRCm39)		probably null	Het
Fntb	A	G	12: 76,909,309 (GRCm39)	N99S	probably benign	Het
Gm5773	T	A	3: 93,680,820 (GRCm39)	I164K	probably benign	Het
Golm2	A	G	2: 121,697,909 (GRCm39)	D75G	probably damaging	Het
Hyal5	T	C	6: 24,877,879 (GRCm39)	I325T	probably damaging	Het
Igsf8	G	A	1: 172,118,295 (GRCm39)		probably null	Het
Lamc2	A	G	1: 153,002,612 (GRCm39)	V17A	possibly damaging	Het
Lpxn	T	C	19: 12,810,122 (GRCm39)		probably null	Het
Macf1	A	G	4: 123,386,464 (GRCm39)	V1296A	probably damaging	Het
Mpdz	A	T	4: 81,266,959 (GRCm39)	L318Q	probably damaging	Het
Mpl	T	A	4: 118,314,610 (GRCm39)	Q13L	probably benign	Het
Mrps5	T	C	2: 127,444,407 (GRCm39)	L347P	probably damaging	Het
Naip1	T	A	13: 100,550,188 (GRCm39)	Q1217H	probably benign	Het
Nav2	G	A	7: 49,247,002 (GRCm39)	V2176I	probably benign	Het
Obi1	A	G	14: 104,743,612 (GRCm39)	S156P	possibly damaging	Het
Or13p3	T	C	4: 118,567,542 (GRCm39)	*313R	probably null	Het
Or7g33	T	C	9: 19,448,638 (GRCm39)	N196S	probably benign	Het
Or8b43	A	G	9: 38,360,420 (GRCm39)	N84S	probably benign	Het
Or8g36	A	T	9: 39,422,722 (GRCm39)	M98K	probably damaging	Het
Pbx2	C	A	17: 34,814,640 (GRCm39)	Y324*	probably null	Het
Pcsk7	T	A	9: 45,839,917 (GRCm39)	C702S	probably benign	Het
Pramel11	T	A	4: 143,623,760 (GRCm39)	H138L	possibly damaging	Het
Rictor	T	C	15: 6,801,685 (GRCm39)	S458P	probably damaging	Het
Scaf4	T	C	16: 90,027,028 (GRCm39)	M905V	probably benign	Het
Scarf2	T	C	16: 17,620,886 (GRCm39)	C185R	probably damaging	Het
Scd1	T	G	19: 44,391,732 (GRCm39)	I101L	probably benign	Het
Slc6a2	A	G	8: 93,687,876 (GRCm39)	M1V	probably null	Het
Sost	T	C	11: 101,854,676 (GRCm39)	Y211C	probably damaging	Het
Sphkap	A	G	1: 83,254,405 (GRCm39)	S828P	probably damaging	Het
Tnn	T	C	1: 159,968,170 (GRCm39)		probably null	Het
Tnrc18	T	C	5: 142,745,816 (GRCm39)	K1319R	unknown	Het
Vmn2r60	A	G	7: 41,844,931 (GRCm39)	T765A	probably benign	Het
Vmn2r91	C	A	17: 18,325,691 (GRCm39)	T103K	possibly damaging	Het
Zbtb44	T	C	9: 30,977,972 (GRCm39)	C429R	possibly damaging	Het
Zc3h4	G	A	7: 16,156,441 (GRCm39)	G327D	unknown	Het
Zfp292	A	G	4: 34,807,417 (GRCm39)	C1876R	probably damaging	Het
Zfp839	C	T	12: 110,834,772 (GRCm39)	L676F	probably damaging	Het
Zg16	A	G	7: 126,649,544 (GRCm39)	L139P	probably damaging	Het
Zscan12	A	G	13: 21,552,961 (GRCm39)	I262V	probably benign	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
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
R7887:Mpnd	UTSW	17	56,318,097 (GRCm39)	missense	probably benign	0.03
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'- TTTGTCATTCCTGAGGGCTC -3'
(R):5'- GGGCTCATGCTTACATTCACTC -3'

Sequencing Primer
(F):5'- CATCTTGGGATAAGGCTAGCC -3'
(R):5'- TTCACTCACAGCTGCAGG -3'

Posted On

2014-10-02