Mutagenetix > Incidental Mutation

Incidental Mutation 'R1926:Midn'

213451

Institutional Source

Beutler Lab

Gene Symbol

Midn

Ensembl Gene

ENSMUSG00000035621

Gene Name

midnolin

Synonyms

3000003C15Rik

MMRRC Submission

039944-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1926 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

79984106-79994202 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79987495 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 109 (S109P)

Ref Sequence

ENSEMBL: ENSMUSP00000097091 (fasta)

Gene Model

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

AlphaFold

Q3TPJ7

Predicted Effect

probably damaging
Transcript: ENSMUST00000042057
AA Change: S109P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000046967
Gene: ENSMUSG00000035621
AA Change: S109P

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 damaging
Transcript: ENSMUST00000099492
AA Change: S109P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000097091
Gene: ENSMUSG00000035621
AA Change: S109P

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

noncoding transcript
Transcript: ENSMUST00000124179

Predicted Effect

probably damaging
Transcript: ENSMUST00000144526
AA Change: S2P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000120988
Gene: ENSMUSG00000035621
AA Change: S2P

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000146516
AA Change: S2P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000119962
Gene: ENSMUSG00000035621
AA Change: S2P

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 damaging
Transcript: ENSMUST00000153477
AA Change: S2P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000119787
Gene: ENSMUSG00000035621
AA Change: S2P

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

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 95.0%
20x: 91.6%

Validation Efficiency

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm3	C	T	7: 119,376,359 (GRCm39)	T362M	probably damaging	Het
Ang6	A	G	14: 44,239,695 (GRCm39)	V11A	possibly damaging	Het
Ankrd17	A	G	5: 90,392,028 (GRCm39)	Y1880H	probably damaging	Het
Bmi1	A	G	2: 18,687,084 (GRCm39)	I55V	probably benign	Het
Bnipl	G	A	3: 95,150,354 (GRCm39)	T297M	probably damaging	Het
Bpifa2	T	C	2: 153,855,669 (GRCm39)	V198A	probably benign	Het
Brms1l	G	T	12: 55,909,946 (GRCm39)	V239F	possibly damaging	Het
Ccdc158	A	G	5: 92,798,647 (GRCm39)	V351A	probably benign	Het
Ces1c	A	G	8: 93,854,232 (GRCm39)	F101S	possibly damaging	Het
Cpb2	T	C	14: 75,479,837 (GRCm39)	Y15H	probably benign	Het
Dglucy	A	T	12: 100,833,414 (GRCm39)	N535I	possibly damaging	Het
Dop1a	C	A	9: 86,405,072 (GRCm39)	H1763Q	probably damaging	Het
Dpy19l1	C	T	9: 24,385,120 (GRCm39)	M236I	probably benign	Het
Efna2	T	C	10: 80,022,710 (GRCm39)	Y85H	probably damaging	Het
Eipr1	A	T	12: 28,914,836 (GRCm39)		probably null	Het
Eln	A	T	5: 134,735,421 (GRCm39)	Y787*	probably null	Het
Erbb2	G	C	11: 98,315,990 (GRCm39)	E364D	probably benign	Het
F5	A	G	1: 164,007,077 (GRCm39)	T294A	probably damaging	Het
Fam47e	A	G	5: 92,733,244 (GRCm39)	T194A	possibly damaging	Het
Galk1	T	C	11: 115,901,073 (GRCm39)	D202G	probably damaging	Het
Glb1l2	T	C	9: 26,682,362 (GRCm39)	D163G	probably damaging	Het
Gmip	A	G	8: 70,268,170 (GRCm39)	E408G	probably benign	Het
Gp1ba	A	T	11: 70,531,715 (GRCm39)		probably benign	Het
Grm3	A	T	5: 9,554,881 (GRCm39)	C804S	probably damaging	Het
Gzmd	A	G	14: 56,367,737 (GRCm39)	C179R	probably damaging	Het
Hadhb	T	A	5: 30,385,935 (GRCm39)	L415Q	possibly damaging	Het
Ift80	T	C	3: 68,823,498 (GRCm39)	Y588C	probably damaging	Het
Jazf1	T	C	6: 53,045,516 (GRCm39)	T13A	probably benign	Het
Kat8	T	A	7: 127,514,467 (GRCm39)	Y67*	probably null	Het
Kcnab1	G	A	3: 65,283,933 (GRCm39)	E384K	possibly damaging	Het
Lhx3	A	T	2: 26,092,200 (GRCm39)	Y230*	probably null	Het
Lmx1b	T	A	2: 33,454,674 (GRCm39)	M365L	probably damaging	Het
Ly6k	G	T	15: 74,669,051 (GRCm39)	P76Q	probably benign	Het
Lypd10	G	A	7: 24,413,541 (GRCm39)	G186R	probably damaging	Het
Map1b	A	T	13: 99,567,200 (GRCm39)	H1840Q	unknown	Het
Map3k2	A	G	18: 32,336,163 (GRCm39)	I117V	probably damaging	Het
Med13	C	A	11: 86,179,899 (GRCm39)	A1350S	possibly damaging	Het
Msh6	A	G	17: 88,293,653 (GRCm39)	T803A	probably benign	Het
Nckap1	T	C	2: 80,337,182 (GRCm39)	Y1018C	probably damaging	Het
Ndufc1	A	T	3: 51,314,816 (GRCm39)	N63K	probably benign	Het
Neb	A	T	2: 52,169,647 (GRCm39)	S1811R	probably damaging	Het
Notch1	T	C	2: 26,371,669 (GRCm39)	D260G	probably damaging	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Oas1g	T	C	5: 121,017,205 (GRCm39)	K283R	probably benign	Het
Obscn	T	C	11: 58,954,300 (GRCm39)	T4037A		Het
Or6b1	T	G	6: 42,815,247 (GRCm39)	L144R	probably damaging	Het
Or6b3	A	G	1: 92,439,330 (GRCm39)	L140P	probably damaging	Het
Otop2	A	T	11: 115,217,781 (GRCm39)	T206S	probably benign	Het
Pamr1	A	G	2: 102,471,342 (GRCm39)		probably null	Het
Pkp1	G	A	1: 135,805,411 (GRCm39)	T675I	probably benign	Het
Plxna2	G	A	1: 194,444,758 (GRCm39)	V717I	probably benign	Het
Ptgs2	T	C	1: 149,975,979 (GRCm39)	L2P	possibly damaging	Het
Rarg	A	G	15: 102,147,980 (GRCm39)	F277S	probably damaging	Het
Rassf5	A	T	1: 131,140,076 (GRCm39)	I161N	probably damaging	Het
Resf1	C	T	6: 149,230,902 (GRCm39)	T1316I	probably benign	Het
Rxfp4	A	G	3: 88,559,659 (GRCm39)	V264A	probably benign	Het
Secisbp2l	T	A	2: 125,582,597 (GRCm39)	Q953L	probably damaging	Het
Serpinb9c	T	C	13: 33,334,218 (GRCm39)	I275V	probably benign	Het
Slc2a12	T	C	10: 22,541,141 (GRCm39)	V332A	probably damaging	Het
Slc7a1	T	C	5: 148,285,113 (GRCm39)	S127G	probably damaging	Het
Slc7a4	A	T	16: 17,393,568 (GRCm39)	V77E	probably damaging	Het
Sp8	G	A	12: 118,812,964 (GRCm39)	S273N	possibly damaging	Het
Spag6l	G	T	16: 16,580,921 (GRCm39)	N475K	probably benign	Het
St18	A	G	1: 6,872,913 (GRCm39)	H216R	probably benign	Het
Tcirg1	C	T	19: 3,952,843 (GRCm39)		probably benign	Het
Tmeff1	A	G	4: 48,658,788 (GRCm39)	Y87C	probably damaging	Het
Tmem94	T	C	11: 115,683,726 (GRCm39)	V713A	possibly damaging	Het
Tnrc6b	G	T	15: 80,765,363 (GRCm39)	R955L	probably damaging	Het
Trip12	A	G	1: 84,727,012 (GRCm39)	V1153A	probably damaging	Het
Tshz3	T	C	7: 36,468,800 (GRCm39)	L263S	probably damaging	Het
Tubb6	G	A	18: 67,534,391 (GRCm39)		probably null	Het
Ube3a	T	C	7: 58,926,127 (GRCm39)	W302R	probably damaging	Het
Vcpkmt	A	T	12: 69,629,519 (GRCm39)	V81E	probably damaging	Het
Vmn1r175	T	A	7: 23,508,466 (GRCm39)	I54F	possibly damaging	Het
Vwa8	T	A	14: 79,258,075 (GRCm39)	N741K	probably benign	Het
Yeats2	A	G	16: 20,033,176 (GRCm39)	T1034A	probably benign	Het
Zc3h6	G	A	2: 128,839,715 (GRCm39)	R176Q	probably damaging	Het
Zfp207	T	A	11: 80,286,253 (GRCm39)	Y424*	probably null	Het
Zfp729a	A	G	13: 67,767,676 (GRCm39)	V851A	probably benign	Het
Zkscan1	G	T	5: 138,099,625 (GRCm39)	A450S	probably benign	Het
Zkscan3	A	G	13: 21,580,616 (GRCm39)	V24A	possibly damaging	Het

Other mutations in Midn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01586:Midn	APN	10	79,992,477 (GRCm39)	unclassified	probably benign
IGL01969:Midn	APN	10	79,991,093 (GRCm39)	missense	probably benign	0.00
IGL02824:Midn	APN	10	79,989,486 (GRCm39)	missense	possibly damaging	0.91
Dunkel	UTSW	10	79,989,918 (GRCm39)	missense	probably damaging	0.96
full_moon	UTSW	10	79,985,946 (GRCm39)	missense	possibly damaging	0.66
Midnight	UTSW	10	79,990,291 (GRCm39)	missense	probably damaging	0.98
Sepia	UTSW	10	79,987,238 (GRCm39)	missense	probably null	0.26
R0684:Midn	UTSW	10	79,992,336 (GRCm39)	missense	probably damaging	1.00
R1517:Midn	UTSW	10	79,989,957 (GRCm39)	missense	probably damaging	0.96
R2004:Midn	UTSW	10	79,990,983 (GRCm39)	missense	probably benign	0.13
R2016:Midn	UTSW	10	79,985,949 (GRCm39)	missense	possibly damaging	0.91
R2340:Midn	UTSW	10	79,985,946 (GRCm39)	missense	possibly damaging	0.66
R2483:Midn	UTSW	10	79,986,144 (GRCm39)	missense	probably benign	0.16
R3622:Midn	UTSW	10	79,986,144 (GRCm39)	missense	probably benign	0.16
R3624:Midn	UTSW	10	79,986,144 (GRCm39)	missense	probably benign	0.16
R4296:Midn	UTSW	10	79,987,553 (GRCm39)	missense	probably damaging	1.00
R4740:Midn	UTSW	10	79,987,238 (GRCm39)	missense	probably null	0.26
R4930:Midn	UTSW	10	79,991,189 (GRCm39)	missense	probably benign
R4977:Midn	UTSW	10	79,986,018 (GRCm39)	missense	probably damaging	1.00
R5423:Midn	UTSW	10	79,991,027 (GRCm39)	missense	probably benign	0.15
R6149:Midn	UTSW	10	79,990,291 (GRCm39)	missense	probably damaging	0.98
R6542:Midn	UTSW	10	79,992,418 (GRCm39)	missense	probably damaging	0.97
R6826:Midn	UTSW	10	79,989,961 (GRCm39)	nonsense	probably null
R7478:Midn	UTSW	10	79,991,156 (GRCm39)	missense	possibly damaging	0.53
R8025:Midn	UTSW	10	79,991,126 (GRCm39)	missense	probably benign	0.00
R8819:Midn	UTSW	10	79,990,234 (GRCm39)	missense	probably damaging	1.00
R8820:Midn	UTSW	10	79,990,234 (GRCm39)	missense	probably damaging	1.00
R8870:Midn	UTSW	10	79,985,939 (GRCm39)	missense	probably damaging	0.96
R9040:Midn	UTSW	10	79,989,918 (GRCm39)	missense	probably damaging	0.96
R9228:Midn	UTSW	10	79,990,275 (GRCm39)	missense	probably damaging	1.00
R9399:Midn	UTSW	10	79,992,210 (GRCm39)	nonsense	probably null
R9784:Midn	UTSW	10	79,992,247 (GRCm39)	missense	probably damaging	1.00
X0018:Midn	UTSW	10	79,989,831 (GRCm39)	missense	possibly damaging	0.90
Z1176:Midn	UTSW	10	79,989,462 (GRCm39)	missense	probably benign
Z1177:Midn	UTSW	10	79,986,074 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGGGAGCAAGTTGACGCTC -3'
(R):5'- ACCAGAGACTCTCTAAGGGTG -3'

Sequencing Primer
(F):5'- GCTGGCCTCATGGTAAATGAC -3'
(R):5'- AGAGACTCTCTAAGGGTGTCCCG -3'

Posted On

2014-07-14