Mutagenetix > Incidental Mutation

Incidental Mutation 'R7544:Mpnd'

584122

Institutional Source

Beutler Lab

Gene Symbol

Mpnd

Ensembl Gene

ENSMUSG00000003199

Gene Name

MPN domain containing

Synonyms

E130307M08Rik

MMRRC Submission

045616-MU

Accession Numbers

Essential gene?

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

Stock #

R7544 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

56316201-56323790 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 56318666 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 225 (R225H)

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: R141H

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000122480
Gene: ENSMUSG00000003199
AA Change: R141H

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

Predicted Effect

probably benign
Transcript: ENSMUST00000149441
AA Change: R225H

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000119745
Gene: ENSMUSG00000003199
AA Change: R225H

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: R82H

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: R221H

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: R225H

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000124644
Gene: ENSMUSG00000003199
AA Change: R225H

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: R225H

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000124128
Gene: ENSMUSG00000003199
AA Change: R225H

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: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	C	T	11: 72,089,765 (GRCm39)	V40I	probably damaging	Het
Abcb11	T	C	2: 69,095,830 (GRCm39)	K837E	probably benign	Het
Arhgef10	T	C	8: 15,029,854 (GRCm39)	S919P	probably benign	Het
Atxn2	T	C	5: 121,919,431 (GRCm39)	S530P	probably damaging	Het
Bicc1	T	C	10: 70,792,204 (GRCm39)	E268G	possibly damaging	Het
Bnip5	G	A	17: 29,124,298 (GRCm39)	R335W	probably damaging	Het
Capn7	T	G	14: 31,062,007 (GRCm39)	L40V	probably damaging	Het
Cd28	A	T	1: 60,808,859 (GRCm39)	N191I	probably damaging	Het
Cfap69	G	A	5: 5,645,936 (GRCm39)	T588M	not run	Het
Csmd1	T	C	8: 16,142,310 (GRCm39)	E1531G	probably damaging	Het
Cyp4a14	T	A	4: 115,348,283 (GRCm39)	D398V	probably damaging	Het
Dchs2	T	C	3: 83,262,434 (GRCm39)	S2901P	probably damaging	Het
Ddx11	G	A	17: 66,433,280 (GRCm39)	G37S	probably damaging	Het
Diaph1	A	T	18: 38,026,322 (GRCm39)		probably null	Het
Ech1	T	C	7: 28,525,392 (GRCm39)	V49A	probably benign	Het
Elovl4	T	C	9: 83,665,271 (GRCm39)	Y196C	probably damaging	Het
Ern2	G	A	7: 121,772,422 (GRCm39)	L679F	probably benign	Het
Fbf1	A	T	11: 116,056,659 (GRCm39)	M17K	probably benign	Het
Flvcr1	C	A	1: 190,758,143 (GRCm39)	G50W	probably damaging	Het
Fryl	A	G	5: 73,238,382 (GRCm39)	S1455P	probably benign	Het
Fzd9	A	G	5: 135,278,716 (GRCm39)	Y390H	probably damaging	Het
Gnai3	C	T	3: 108,025,702 (GRCm39)	V126M		Het
Gpc5	T	C	14: 115,665,585 (GRCm39)	F470L	probably damaging	Het
Grin1	T	C	2: 25,195,086 (GRCm39)	N332S	probably benign	Het
Gtf3c5	T	A	2: 28,469,554 (GRCm39)	I117F	possibly damaging	Het
Hydin	A	T	8: 111,316,157 (GRCm39)	S4350C	probably benign	Het
Kcnh4	G	T	11: 100,647,906 (GRCm39)	H152Q	probably benign	Het
Kcnk12	A	T	17: 88,053,493 (GRCm39)	S390T	possibly damaging	Het
Klra9	T	G	6: 130,168,183 (GRCm39)	T28P	probably benign	Het
Lef1	T	A	3: 130,988,414 (GRCm39)	I327N	probably damaging	Het
Lin54	A	G	5: 100,633,129 (GRCm39)	V185A	possibly damaging	Het
Lrrc37	T	C	11: 103,506,274 (GRCm39)	E1898G	probably benign	Het
Lrrc4b	A	T	7: 44,111,975 (GRCm39)	I616F	probably damaging	Het
Mad2l1bp	A	G	17: 46,463,770 (GRCm39)	Y85H	possibly damaging	Het
Mars1	T	C	10: 127,147,479 (GRCm39)	E7G	probably benign	Het
Muc4	T	A	16: 32,555,016 (GRCm39)	M1K	probably null	Het
Nckap5	A	G	1: 125,953,948 (GRCm39)	L868S	possibly damaging	Het
Ndst1	G	A	18: 60,830,256 (GRCm39)	T618M	probably damaging	Het
Npas1	A	T	7: 16,194,899 (GRCm39)		probably null	Het
Nr2f2	A	T	7: 70,004,499 (GRCm39)	V384D	probably damaging	Het
Or10a3b	A	G	7: 108,444,528 (GRCm39)	S230P	probably benign	Het
Or1e19	A	G	11: 73,316,596 (GRCm39)	L71P	probably damaging	Het
Or4p8	T	A	2: 88,727,705 (GRCm39)	I79F	probably damaging	Het
Paip1	T	A	13: 119,582,337 (GRCm39)	F188I	probably damaging	Het
Pcdha4	A	T	18: 37,086,776 (GRCm39)	I320L	probably benign	Het
Peg10	TCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATC	T	6: 4,756,427 (GRCm39)		probably null	Het
Pgpep1	C	T	8: 71,103,168 (GRCm39)	G110R	unknown	Het
Pidd1	T	A	7: 141,020,252 (GRCm39)	H558L	possibly damaging	Het
Ppp1r1a	C	T	15: 103,439,776 (GRCm39)		probably null	Het
Pramel18	T	C	4: 101,768,599 (GRCm39)	S317P	possibly damaging	Het
Pramel51	T	A	12: 88,142,850 (GRCm39)	Y451F	probably benign	Het
Prkcg	A	G	7: 3,359,081 (GRCm39)	D96G	probably benign	Het
Prpf40b	A	G	15: 99,203,899 (GRCm39)	N154S	probably benign	Het
Psg17	A	G	7: 18,553,897 (GRCm39)	Y118H	probably benign	Het
Ptpn12	A	G	5: 21,214,509 (GRCm39)	I209T	probably damaging	Het
Reln	T	A	5: 22,181,276 (GRCm39)	K1835*	probably null	Het
Sf3b3	T	C	8: 111,564,915 (GRCm39)	M298V	probably benign	Het
Slc5a3	T	A	16: 91,874,682 (GRCm39)	N246K	probably benign	Het
Slmap	T	A	14: 26,151,001 (GRCm39)	E522D	probably damaging	Het
Slmap	C	T	14: 26,151,003 (GRCm39)	E522K	probably damaging	Het
Tcp10c	T	A	17: 13,581,260 (GRCm39)	L230Q	probably damaging	Het
Tdo2	A	G	3: 81,878,942 (GRCm39)		probably null	Het
Tet3	A	T	6: 83,381,623 (GRCm39)	W182R	probably damaging	Het
Tmem151a	T	A	19: 5,121,895 (GRCm39)	M35L	unknown	Het
Tom1l2	TTGATGATG	TTGATG	11: 60,171,040 (GRCm39)		probably benign	Het
Trak2	A	T	1: 58,960,227 (GRCm39)		probably null	Het
Trappc11	T	A	8: 47,975,449 (GRCm39)	E256D	possibly damaging	Het
Trim62	C	T	4: 128,796,346 (GRCm39)	T281I	probably benign	Het
Trip13	T	C	13: 74,081,021 (GRCm39)	E115G	probably benign	Het
Trp63	A	G	16: 25,620,837 (GRCm39)	T10A	probably benign	Het
Urah	A	T	7: 140,415,565 (GRCm39)	H11L	probably damaging	Het
Usp39	G	A	6: 72,319,891 (GRCm39)	T109I	probably damaging	Het
Wfikkn2	T	C	11: 94,128,738 (GRCm39)	T468A	probably benign	Het
Zfhx4	T	G	3: 5,477,875 (GRCm39)	S3497A	probably damaging	Het
Zfp85	C	T	13: 67,897,184 (GRCm39)	R296H	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
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
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'- TGGGGAATCCTGAATCCTGATTC -3'
(R):5'- TTAGGAACTCAGGCTCTTTCC -3'

Sequencing Primer
(F):5'- TCACAGAGATGCATCCTCTGAGTG -3'
(R):5'- GAACTCAGGCTCTTTCCCACCTC -3'

Posted On

2019-10-17