Mutagenetix > Incidental Mutations

Incidental Mutation 'R3622:Midn'

268681

Institutional Source

Beutler Lab

Gene Symbol

Midn

Ensembl Gene

ENSMUSG00000035621

Gene Name

midnolin

Synonyms

MMRRC Submission

040677-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.139) question?

Stock #

R3622 (G1)

Quality Score

153

Status

Not validated

Chromosome

Chromosomal Location

80148272-80158368 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80150310 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 78 (D78G)

Ref Sequence

ENSEMBL: ENSMUSP00000097091 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003156] [ENSMUST00000042057] [ENSMUST00000099492] [ENSMUST00000105366] [ENSMUST00000105367] [ENSMUST00000144526] [ENSMUST00000146516] [ENSMUST00000151202] [ENSMUST00000153477]

Predicted Effect

probably benign
Transcript: ENSMUST00000003156

SMART Domains

Protein: ENSMUSP00000003156
Gene: ENSMUSG00000003072

Domain	Start	End	E-Value	Type
low complexity region	23	36	N/A	INTRINSIC
Pfam:ATP-synt_DE_N	38	119	2.2e-21	PFAM
low complexity region	144	162	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000042057
AA Change: D78G

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000046967
Gene: ENSMUSG00000035621
AA Change: D78G

Domain	Start	End	E-Value	Type
UBQ	32	102	3.39e-7	SMART
low complexity region	130	143	N/A	INTRINSIC
low complexity region	197	211	N/A	INTRINSIC
low complexity region	238	262	N/A	INTRINSIC
low complexity region	283	302	N/A	INTRINSIC
low complexity region	398	409	N/A	INTRINSIC
low complexity region	434	453	N/A	INTRINSIC
low complexity region	465	485	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000099492
AA Change: D78G

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000097091
Gene: ENSMUSG00000035621
AA Change: D78G

Domain	Start	End	E-Value	Type
UBQ	32	102	3.39e-7	SMART
low complexity region	154	168	N/A	INTRINSIC
low complexity region	195	219	N/A	INTRINSIC
low complexity region	240	259	N/A	INTRINSIC
low complexity region	355	366	N/A	INTRINSIC
low complexity region	391	410	N/A	INTRINSIC
low complexity region	422	442	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105366

SMART Domains

Protein: ENSMUSP00000101005
Gene: ENSMUSG00000003072

Domain	Start	End	E-Value	Type
low complexity region	23	36	N/A	INTRINSIC
Pfam:ATP-synt_DE_N	38	103	2.3e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105367

SMART Domains

Protein: ENSMUSP00000101006
Gene: ENSMUSG00000003072

Domain	Start	End	E-Value	Type
low complexity region	23	36	N/A	INTRINSIC
Pfam:ATP-synt_DE_N	38	119	2.2e-21	PFAM
low complexity region	144	162	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124179

Predicted Effect

probably benign
Transcript: ENSMUST00000144526

SMART Domains

Protein: ENSMUSP00000120988
Gene: ENSMUSG00000035621

Domain	Start	End	E-Value	Type
low complexity region	23	36	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000146516

SMART Domains

Protein: ENSMUSP00000119962
Gene: ENSMUSG00000035621

Domain	Start	End	E-Value	Type
low complexity region	47	61	N/A	INTRINSIC
low complexity region	88	112	N/A	INTRINSIC
low complexity region	133	152	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000151202

SMART Domains

Protein: ENSMUSP00000115717
Gene: ENSMUSG00000035621

Domain	Start	End	E-Value	Type
Blast:UBQ	32	67	4e-18	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000153477

SMART Domains

Protein: ENSMUSP00000119787
Gene: ENSMUSG00000035621

Domain	Start	End	E-Value	Type
low complexity region	23	36	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 95.1%

Validation Efficiency

100% (42/42)

MGI Phenotype

FUNCTION: This gene encodes a protein that contains an ubiquitin-like domain. This protein may be involved in the regulation of brain development as inferred by its high expression level in the embryonic midbrain. This protein has been found to negatively regulate glucokinase activity and insulin secretion in pancreatic beta cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit cleft palate and small ovary. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	A	7: 120,350,813	Y503*	probably null	Het
Akap9	C	A	5: 3,976,235	Q1297K	possibly damaging	Het
Dffb	T	C	4: 153,965,519	T296A	probably damaging	Het
Dpf1	G	A	7: 29,316,206		probably null	Het
Grid2ip	T	C	5: 143,386,019	S666P	probably damaging	Het
Gucy2e	T	A	11: 69,225,051	E835V	probably damaging	Het
Hdac5	G	A	11: 102,195,818	P120S	probably benign	Het
Htr1d	T	C	4: 136,443,504	I348T	probably damaging	Het
Hyal4	A	T	6: 24,765,738	S364C	probably damaging	Het
Igkv1-133	A	T	6: 67,724,960	Q16L	probably benign	Het
Ikbkap	A	T	4: 56,759,925		probably null	Het
Itga10	C	T	3: 96,651,738		probably benign	Het
Met	A	T	6: 17,549,086	D979V	probably damaging	Het
Mga	A	G	2: 119,941,764	T1702A	probably damaging	Het
Muc5b	T	C	7: 141,851,858		probably benign	Het
Olfr1461	T	A	19: 13,165,656	M214K	probably benign	Het
Olfr390	A	G	11: 73,787,741	T268A	probably benign	Het
Olfr912	A	G	9: 38,581,496	Y73C	probably damaging	Het
Olfr994	C	T	2: 85,430,493	C112Y	probably benign	Het
Oma1	T	C	4: 103,366,091	I491T	probably benign	Het
Pbld2	T	C	10: 63,061,691	L57P	probably damaging	Het
Phka2	T	A	X: 160,544,295	Y334*	probably null	Het
Plin4	G	T	17: 56,104,112	T973K	possibly damaging	Het
R3hdm4	C	T	10: 79,912,681	R143H	possibly damaging	Het
Rps18	G	C	17: 33,952,273		probably null	Het
Samd9l	A	T	6: 3,374,032	C1076*	probably null	Het
Scml4	T	C	10: 42,930,611		probably benign	Het
Slc16a10	A	G	10: 40,141,894	V48A	probably benign	Het
Slc6a5	T	C	7: 49,917,623	V275A	probably benign	Het
Smad9	C	T	3: 54,789,284	R257W	probably damaging	Het
Snrpb	C	A	2: 130,175,379	R73L	probably null	Het
Srsf9	C	T	5: 115,330,512	A69V	probably damaging	Het
Stfa2	A	G	16: 36,404,071	Y90H	probably damaging	Het
Tgm6	T	A	2: 130,151,761	V640E	possibly damaging	Het
Tnrc6c	C	T	11: 117,749,625	R1414C	probably damaging	Het
Tyk2	A	T	9: 21,127,310	C8S	probably damaging	Het
Upp2	G	A	2: 58,790,116	R300Q	possibly damaging	Het
Utp20	A	G	10: 88,757,993		probably benign	Het
Veph1	C	T	3: 66,215,437	V224I	probably benign	Het
Vmn1r30	A	T	6: 58,435,452	F132I	probably benign	Het
Vmn2r116	A	G	17: 23,386,051	S113G	probably benign	Het
Vps53	A	C	11: 76,117,783	V237G	probably benign	Het

Other mutations in Midn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01586:Midn	APN	10	80156643	unclassified	probably benign
IGL01969:Midn	APN	10	80155259	missense	probably benign	0.00
IGL02824:Midn	APN	10	80153652	missense	possibly damaging	0.91
full_moon	UTSW	10	80150112	missense	possibly damaging	0.66
Midnight	UTSW	10	80154457	missense	probably damaging	0.98
Sepia	UTSW	10	80151404	missense	probably null	0.26
R0684:Midn	UTSW	10	80156502	missense	probably damaging	1.00
R1517:Midn	UTSW	10	80154123	missense	probably damaging	0.96
R1926:Midn	UTSW	10	80151661	missense	probably damaging	1.00
R2004:Midn	UTSW	10	80155149	missense	probably benign	0.13
R2016:Midn	UTSW	10	80150115	missense	possibly damaging	0.91
R2340:Midn	UTSW	10	80150112	missense	possibly damaging	0.66
R2483:Midn	UTSW	10	80150310	missense	probably benign	0.16
R3624:Midn	UTSW	10	80150310	missense	probably benign	0.16
R4296:Midn	UTSW	10	80151719	missense	probably damaging	1.00
R4740:Midn	UTSW	10	80151404	missense	probably null	0.26
R4930:Midn	UTSW	10	80155355	missense	probably benign
R4977:Midn	UTSW	10	80150184	missense	probably damaging	1.00
R5423:Midn	UTSW	10	80155193	missense	probably benign	0.15
R6149:Midn	UTSW	10	80154457	missense	probably damaging	0.98
R6542:Midn	UTSW	10	80156584	missense	probably damaging	0.97
R6826:Midn	UTSW	10	80154127	nonsense	probably null
R7478:Midn	UTSW	10	80155322	missense	possibly damaging	0.53
R8025:Midn	UTSW	10	80155292	missense	probably benign	0.00
X0018:Midn	UTSW	10	80153997	missense	possibly damaging	0.90
Z1176:Midn	UTSW	10	80153628	missense	probably benign
Z1177:Midn	UTSW	10	80150240	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTCCCGGCTAGGATTGGAG -3'
(R):5'- GCTCCTGCCTTTGTGCAGAC -3'

Sequencing Primer
(F):5'- TAGGATTGGAGGCGACCC -3'
(R):5'- GGCCCAAGCAAGTAAGGCC -3'

Posted On

2015-02-19