Mutagenetix > Incidental Mutation

Incidental Mutation 'R7654:Mpnd'

591100

Institutional Source

Beutler Lab

Gene Symbol

Mpnd

Ensembl Gene

ENSMUSG00000003199

Gene Name

MPN domain containing

Synonyms

E130307M08Rik

MMRRC Submission

045702-MU

Accession Numbers

Essential gene?

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

Stock #

R7654 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56316201-56323790 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 56317489 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 159 (H159Q)

Ref Sequence

ENSEMBL: ENSMUSP00000119745 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043785] [ENSMUST00000133998] [ENSMUST00000149441] [ENSMUST00000159996] [ENSMUST00000162883]

AlphaFold

Q3TV65

Predicted Effect

probably benign
Transcript: ENSMUST00000043785

SMART Domains

Protein: ENSMUSP00000038130
Gene: ENSMUSG00000038781

Domain	Start	End	E-Value	Type
PH	20	120	1.22e-3	SMART
SH2	150	239	2.58e-3	SMART
low complexity region	278	297	N/A	INTRINSIC
low complexity region	302	312	N/A	INTRINSIC
low complexity region	343	365	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000133998
AA Change: H75Q

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000122480
Gene: ENSMUSG00000003199
AA Change: H75Q

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

Predicted Effect

probably benign
Transcript: ENSMUST00000149441
AA Change: H159Q

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000119745
Gene: ENSMUSG00000003199
AA Change: H159Q

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: H16Q

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: H155Q

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: H159Q

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000124644
Gene: ENSMUSG00000003199
AA Change: H159Q

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: H159Q

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000124128
Gene: ENSMUSG00000003199
AA Change: H159Q

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: 98.9%

Validation Efficiency

100% (76/76)

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	G	A	19: 43,815,032 (GRCm39)	V1140M	possibly damaging	Het
Adamtsl3	A	C	7: 82,223,702 (GRCm39)	E1161A	probably benign	Het
Adcy5	T	C	16: 35,091,317 (GRCm39)	S587P	probably damaging	Het
Aebp2	T	A	6: 140,599,474 (GRCm39)		probably null	Het
Alb	G	C	5: 90,615,214 (GRCm39)	R242P	probably damaging	Het
Ankhd1	T	C	18: 36,727,154 (GRCm39)	V423A	probably damaging	Het
Arid1b	T	A	17: 5,341,360 (GRCm39)	M888K	possibly damaging	Het
Asl	C	A	5: 130,047,231 (GRCm39)	R122S	probably damaging	Het
B3gntl1	T	A	11: 121,542,439 (GRCm39)	D109V	probably damaging	Het
Cat	G	A	2: 103,290,709 (GRCm39)	P402S	probably damaging	Het
Ccdc141	A	T	2: 76,872,822 (GRCm39)	Y787N	probably benign	Het
Ccdc78	T	C	17: 26,009,085 (GRCm39)	Y405H	probably damaging	Het
Ces1f	T	G	8: 93,998,562 (GRCm39)	K145Q	probably benign	Het
Cfap65	A	T	1: 74,972,303 (GRCm39)	C19S	probably benign	Het
CN725425	T	A	15: 91,123,638 (GRCm39)	I118N	probably benign	Het
Ctc1	C	T	11: 68,917,041 (GRCm39)	P312S	probably damaging	Het
Ctsa	C	T	2: 164,680,853 (GRCm39)	T442I	probably benign	Het
Cyp2b9	A	G	7: 25,886,367 (GRCm39)	T131A	possibly damaging	Het
D630045J12Rik	A	G	6: 38,154,636 (GRCm39)	M1181T	probably damaging	Het
Dagla	C	G	19: 10,225,570 (GRCm39)	G865R	probably benign	Het
Dst	A	C	1: 34,268,058 (GRCm39)	K3153Q	probably damaging	Het
Dst	A	T	1: 34,268,059 (GRCm39)	K3153M	probably damaging	Het
Dync2h1	A	T	9: 7,122,664 (GRCm39)	H2097Q	probably damaging	Het
Etnppl	A	G	3: 130,423,160 (GRCm39)	I286M	probably benign	Het
Flvcr1	A	T	1: 190,743,802 (GRCm39)	M418K	possibly damaging	Het
Fuca1	T	C	4: 135,657,232 (GRCm39)	S215P	probably damaging	Het
Gabrg1	T	C	5: 70,935,504 (GRCm39)	K222E	probably benign	Het
Gdpd5	G	A	7: 99,073,396 (GRCm39)	R26H	probably damaging	Het
Gnptab	T	A	10: 88,281,681 (GRCm39)	S1229R	possibly damaging	Het
Gpt	A	G	15: 76,582,530 (GRCm39)	E256G	probably benign	Het
Hif3a	C	T	7: 16,783,021 (GRCm39)	V261I	probably damaging	Het
Hmcn2	A	G	2: 31,236,581 (GRCm39)	T375A	probably benign	Het
Hspa4	C	A	11: 53,190,951 (GRCm39)	V15F	probably damaging	Het
Il18	A	G	9: 50,490,701 (GRCm39)	N112S	possibly damaging	Het
Inpp4a	A	G	1: 37,413,179 (GRCm39)		probably null	Het
Knop1	A	G	7: 118,445,032 (GRCm39)	S525P	unknown	Het
Leo1	A	T	9: 75,362,961 (GRCm39)	Y461F	possibly damaging	Het
Med1	C	T	11: 98,060,189 (GRCm39)	V247I	possibly damaging	Het
Msl1	A	G	11: 98,686,937 (GRCm39)	E94G	possibly damaging	Het
Mthfd2l	A	T	5: 91,094,665 (GRCm39)	I45F	probably damaging	Het
Neurl1b	T	A	17: 26,657,671 (GRCm39)	L203Q	probably benign	Het
Or5m12	G	T	2: 85,734,663 (GRCm39)	T245N	possibly damaging	Het
Otoa	T	G	7: 120,746,923 (GRCm39)	L896R	probably damaging	Het
Pcdhac2	T	A	18: 37,278,076 (GRCm39)	V352E	probably damaging	Het
Pcsk5	T	A	19: 17,434,168 (GRCm39)	K1400I	possibly damaging	Het
Pcx	T	A	19: 4,565,697 (GRCm39)		probably null	Het
Pds5a	A	G	5: 65,776,324 (GRCm39)	V90A	probably damaging	Het
Pgam2	T	C	11: 5,753,351 (GRCm39)	K113R	probably null	Het
Phkb	G	T	8: 86,667,516 (GRCm39)	R266L	possibly damaging	Het
Phtf2	A	G	5: 20,987,459 (GRCm39)	S346P	probably damaging	Het
Pkd1l3	G	A	8: 110,365,049 (GRCm39)	A1144T	probably damaging	Het
Plbd1	T	C	6: 136,628,864 (GRCm39)	Y68C	possibly damaging	Het
Polk	T	C	13: 96,633,321 (GRCm39)	T241A	probably benign	Het
Ppfibp2	T	A	7: 107,337,818 (GRCm39)	D635E	probably damaging	Het
Ppip5k1	G	A	2: 121,179,040 (GRCm39)	R229W	probably damaging	Het
Ptpn20	A	G	14: 33,360,281 (GRCm39)	D386G	probably benign	Het
Rab22a	T	C	2: 173,529,968 (GRCm39)	Y49H	probably benign	Het
Rab3gap1	A	G	1: 127,837,652 (GRCm39)	D238G	probably damaging	Het
Rbp3	T	C	14: 33,677,797 (GRCm39)	S582P	probably benign	Het
Rcbtb2	T	C	14: 73,411,941 (GRCm39)	V410A	probably benign	Het
Sh3rf2	A	G	18: 42,237,173 (GRCm39)	E232G	probably damaging	Het
Shroom1	T	A	11: 53,357,735 (GRCm39)	V762E	probably benign	Het
Speer4f2	A	T	5: 17,579,413 (GRCm39)	M71L		Het
Sprr2b	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	3: 92,224,826 (GRCm39)		probably benign	Het
Tgfb1	A	T	7: 25,387,120 (GRCm39)		probably benign	Het
Tnik	C	T	3: 28,658,334 (GRCm39)	R540C	probably damaging	Het
Tti1	A	T	2: 157,850,474 (GRCm39)	I255N	probably benign	Het
Ttn	T	C	2: 76,727,490 (GRCm39)	S5739G	unknown	Het
Umad1	G	A	6: 8,426,995 (GRCm39)	V57M	probably damaging	Het
Usp30	T	A	5: 114,240,506 (GRCm39)	I49N	probably damaging	Het
Usp7	G	A	16: 8,519,907 (GRCm39)	T398I	probably benign	Het
Vmn2r65	A	G	7: 84,590,261 (GRCm39)	Y552H	probably damaging	Het
Zfp616	A	G	11: 73,974,013 (GRCm39)	N185S	possibly damaging	Het
Zfp804b	T	A	5: 6,819,458 (GRCm39)	T1202S	probably damaging	Het
Zfyve28	A	T	5: 34,400,539 (GRCm39)	V53D	probably damaging	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
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'- GCAGGAAGTTTACTGGGGAC -3'
(R):5'- TTCAGGATCAAAGCCCAAGTC -3'

Sequencing Primer
(F):5'- TGCAGCTGGATGGCAGGATC -3'
(R):5'- AAAGCCCAAGTCCTCCGGG -3'

Posted On

2019-11-12