Mutagenetix > Incidental Mutation

Incidental Mutation 'R1517:Midn'

167108

Institutional Source

Beutler Lab

Gene Symbol

Midn

Ensembl Gene

ENSMUSG00000035621

Gene Name

midnolin

Synonyms

3000003C15Rik

MMRRC Submission

039563-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1517 (G1)

Quality Score

133

Status

Validated

Chromosome

Chromosomal Location

79984106-79994202 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 79989957 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 275 (T275N)

Ref Sequence

ENSEMBL: ENSMUSP00000046967 (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: T275N

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000046967
Gene: ENSMUSG00000035621
AA Change: T275N

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: T232N

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000097091
Gene: ENSMUSG00000035621
AA Change: T232N

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 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
AA Change: T125N

PolyPhen 2 Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000119962
Gene: ENSMUSG00000035621
AA Change: T125N

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

Meta Mutation Damage Score

0.0665

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.9%

Validation Efficiency

100% (67/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	C	11: 109,862,640 (GRCm39)	K375R	possibly damaging	Het
Adrb2	T	C	18: 62,311,871 (GRCm39)	N318S	probably damaging	Het
Akap5	A	C	12: 76,376,036 (GRCm39)	E489D	possibly damaging	Het
Aldh7a1	T	A	18: 56,665,133 (GRCm39)	I385F	probably damaging	Het
Astn1	T	A	1: 158,407,146 (GRCm39)		probably benign	Het
Atp7b	T	A	8: 22,487,374 (GRCm39)	T1314S	probably damaging	Het
Bhmt2	C	A	13: 93,798,847 (GRCm39)	G325C	probably damaging	Het
Brpf1	T	A	6: 113,296,050 (GRCm39)	V781E	probably benign	Het
Cacna1c	T	A	6: 118,575,720 (GRCm39)	Y1860F	probably benign	Het
Ccdc7a	T	C	8: 129,788,162 (GRCm39)	T56A	probably damaging	Het
Cep78	A	G	19: 15,937,027 (GRCm39)	S560P	probably damaging	Het
Cnot1	G	A	8: 96,469,841 (GRCm39)	T1343I	probably benign	Het
Coq10b	T	C	1: 55,103,416 (GRCm39)	S65P	probably damaging	Het
Creld1	T	A	6: 113,466,745 (GRCm39)	C243S	probably damaging	Het
Cst12	A	T	2: 148,635,172 (GRCm39)	I121F	possibly damaging	Het
Cyp26a1	A	C	19: 37,687,308 (GRCm39)	E165A	probably benign	Het
Cyp2d12	T	G	15: 82,442,337 (GRCm39)	M273R	probably damaging	Het
Dnajb7	T	A	15: 81,291,657 (GRCm39)	S227C	probably damaging	Het
Evc	T	A	5: 37,476,379 (GRCm39)	Q390L	probably damaging	Het
F830016B08Rik	T	A	18: 60,433,970 (GRCm39)	L351*	probably null	Het
Fga	T	C	3: 82,939,145 (GRCm39)	S507P	probably benign	Het
Gba1	A	T	3: 89,113,455 (GRCm39)	Y239F	probably damaging	Het
Golga2	C	A	2: 32,195,996 (GRCm39)	Y843*	probably null	Het
Gria4	C	A	9: 4,793,865 (GRCm39)	L64F	probably damaging	Het
Hectd3	A	G	4: 116,860,191 (GRCm39)	Y803C	probably damaging	Het
Hmcn1	T	C	1: 150,545,172 (GRCm39)	K2812E	probably damaging	Het
Il17b	T	G	18: 61,823,316 (GRCm39)	V50G	probably damaging	Het
Itga2b	A	T	11: 102,357,151 (GRCm39)	L243*	probably null	Het
Kank4	C	A	4: 98,667,266 (GRCm39)	V394L	possibly damaging	Het
Kat14	T	A	2: 144,215,711 (GRCm39)	D65E	probably benign	Het
Kcnh3	T	C	15: 99,136,090 (GRCm39)	Y696H	probably damaging	Het
Kctd19	C	A	8: 106,122,008 (GRCm39)	D180Y	probably damaging	Het
Klra8	A	C	6: 130,092,603 (GRCm39)	S233A	probably benign	Het
Masp2	A	T	4: 148,696,563 (GRCm39)	T387S	possibly damaging	Het
Mis18bp1	A	G	12: 65,180,587 (GRCm39)	F965L	probably benign	Het
Myo3a	G	T	2: 22,287,445 (GRCm39)	V186L	probably damaging	Het
Ncoa2	T	A	1: 13,235,281 (GRCm39)	N884I	probably benign	Het
Or10d4	T	C	9: 39,581,016 (GRCm39)	I221T	probably damaging	Het
Or13c25	A	T	4: 52,911,502 (GRCm39)	C97*	probably null	Het
Or8k35	T	A	2: 86,424,948 (GRCm39)	T75S	probably damaging	Het
Osr2	T	C	15: 35,300,813 (GRCm39)	V123A	probably benign	Het
P4ha2	A	G	11: 54,008,471 (GRCm39)	H226R	probably benign	Het
Pcdhb16	T	A	18: 37,611,151 (GRCm39)	V37E	probably benign	Het
Pcdhb18	T	A	18: 37,622,673 (GRCm39)	M1K	probably null	Het
Pcsk1	T	A	13: 75,246,166 (GRCm39)	Y181*	probably null	Het
Pros1	G	T	16: 62,705,875 (GRCm39)	C63F	probably damaging	Het
Ranbp3l	T	A	15: 9,065,081 (GRCm39)	C353*	probably null	Het
Rev3l	T	C	10: 39,714,439 (GRCm39)	Y2388H	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rpl12-ps1	G	T	1: 36,997,458 (GRCm39)		noncoding transcript	Het
Rttn	T	C	18: 89,131,474 (GRCm39)	V1951A	probably benign	Het
Scn9a	G	A	2: 66,335,371 (GRCm39)		probably benign	Het
Sdk1	T	C	5: 142,113,591 (GRCm39)	F1546S	probably damaging	Het
Sh3glb2	C	T	2: 30,244,987 (GRCm39)	R71Q	probably damaging	Het
Slc30a6	T	C	17: 74,715,842 (GRCm39)	F101L	probably benign	Het
Snrpd1	T	C	18: 10,626,913 (GRCm39)	I60T	probably damaging	Het
Sox10	T	A	15: 79,043,378 (GRCm39)	E218D	probably benign	Het
Tekt3	C	A	11: 62,961,316 (GRCm39)	H162N	probably damaging	Het
Tnfsf13	T	C	11: 69,575,564 (GRCm39)	S246G	possibly damaging	Het
Trim10	T	A	17: 37,183,346 (GRCm39)	I214N	probably damaging	Het
Trp63	C	A	16: 25,708,003 (GRCm39)	D566E	probably damaging	Het
Uck2	T	C	1: 167,062,293 (GRCm39)	D156G	probably damaging	Het
Zfp386	T	A	12: 116,023,225 (GRCm39)	S314R	possibly damaging	Het
Zfp467	C	T	6: 48,415,170 (GRCm39)	R494H	probably damaging	Het
Zfp735	A	T	11: 73,601,470 (GRCm39)	D138V	probably benign	Het
Zfyve26	T	C	12: 79,298,925 (GRCm39)	E445G	probably 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
R1926:Midn	UTSW	10	79,987,495 (GRCm39)	missense	probably damaging	1.00
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'- CGAGTCGGGGATCACATGATGTTTG -3'
(R):5'- TCACGAAGCTCTCAATGACCGC -3'

Sequencing Primer
(F):5'- CACCGCCATGTGCTTGC -3'
(R):5'- GAGAACAGTCCATCTGCTGG -3'

Posted On

2014-04-13