Mutagenetix > Incidental Mutation

Incidental Mutation 'R9734:Mucl3'

731622

Institutional Source

Beutler Lab

Gene Symbol

Mucl3

Ensembl Gene

ENSMUSG00000073408

Gene Name

mucin like 3

Synonyms

LOC268949, Dpcr1

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R9734 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

35946647-35954587 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 35949233 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 122 (D122V)

Ref Sequence

ENSEMBL: ENSMUSP00000093120 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095467] [ENSMUST00000174521]

AlphaFold

Q3TNW5

Predicted Effect

probably benign
Transcript: ENSMUST00000095467
AA Change: D122V

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000093120
Gene: ENSMUSG00000073408
AA Change: D122V

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
transmembrane domain	428	450	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000174521

SMART Domains

Protein: ENSMUSP00000134221
Gene: ENSMUSG00000090509

Domain	Start	End	E-Value	Type
Pfam:SFTA2	80	117	9.2e-18	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot7	T	A	4: 152,345,474 (GRCm39)	V348E	probably damaging	Het
Adgrf5	T	C	17: 43,763,199 (GRCm39)	L1270P	probably damaging	Het
Akap12	C	T	10: 4,305,929 (GRCm39)	T1018M	probably damaging	Het
Bnip3l	G	A	14: 67,246,214 (GRCm39)	P7L	possibly damaging	Het
Bod1l	A	T	5: 41,962,573 (GRCm39)	D2721E	possibly damaging	Het
Bri3bp	G	T	5: 125,518,736 (GRCm39)	R4L	unknown	Het
Cnbd2	T	A	2: 156,180,540 (GRCm39)	N241K	possibly damaging	Het
Cpne2	A	G	8: 95,295,228 (GRCm39)	I438V	probably benign	Het
Crybg2	A	G	4: 133,801,962 (GRCm39)	T732A	probably benign	Het
D6Ertd527e	G	C	6: 87,088,839 (GRCm39)	S334T	unknown	Het
Dbt	T	C	3: 116,339,704 (GRCm39)	V364A	probably benign	Het
Fbn1	A	G	2: 125,231,898 (GRCm39)	V412A	probably benign	Het
Fsip1	T	A	2: 118,070,916 (GRCm39)	Q258L	probably benign	Het
Gabrg3	A	G	7: 56,634,908 (GRCm39)	Y92H	probably damaging	Het
Grid1	C	A	14: 35,302,742 (GRCm39)	D1002E	probably benign	Het
Guf1	T	A	5: 69,726,605 (GRCm39)	C565*	probably null	Het
Iqce	G	T	5: 140,678,564 (GRCm39)	R127S	probably damaging	Het
Lama3	A	T	18: 12,682,320 (GRCm39)	E1095D	possibly damaging	Het
Lamb2	G	T	9: 108,365,830 (GRCm39)	G1445W	probably damaging	Het
Mmp25	C	T	17: 23,850,834 (GRCm39)	V367M	possibly damaging	Het
Or10d4c	T	C	9: 39,558,202 (GRCm39)	F60S	probably damaging	Het
Or8b3b	A	T	9: 38,584,239 (GRCm39)	I167N	probably benign	Het
Pramel30	A	G	4: 144,057,737 (GRCm39)	M115V	probably benign	Het
Rusc1	A	T	3: 88,996,496 (GRCm39)	S696T	probably damaging	Het
Scamp2	T	G	9: 57,490,175 (GRCm39)	F225V	possibly damaging	Het
Stim1	A	G	7: 102,064,560 (GRCm39)	H210R	possibly damaging	Het
Vil1	T	C	1: 74,454,309 (GRCm39)	I24T	possibly damaging	Het
Vmn1r218	T	A	13: 23,321,034 (GRCm39)	L127H	probably damaging	Het
Vmn2r29	A	G	7: 7,234,492 (GRCm39)	V798A	probably damaging	Het
Vmn2r68	T	A	7: 84,882,757 (GRCm39)	T332S	possibly damaging	Het
Zfp366	A	G	13: 99,365,352 (GRCm39)	Y171C	probably damaging	Het

Other mutations in Mucl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00476:Mucl3	APN	17	35,948,994 (GRCm39)	missense	possibly damaging	0.46
IGL01321:Mucl3	APN	17	35,947,758 (GRCm39)	missense	probably damaging	0.98
IGL01805:Mucl3	APN	17	35,948,535 (GRCm39)	missense	possibly damaging	0.62
IGL02320:Mucl3	APN	17	35,948,332 (GRCm39)	missense	probably benign	0.00
R1869:Mucl3	UTSW	17	35,949,305 (GRCm39)	missense	possibly damaging	0.82
R4570:Mucl3	UTSW	17	35,948,883 (GRCm39)	missense	possibly damaging	0.66
R4858:Mucl3	UTSW	17	35,948,468 (GRCm39)	missense	possibly damaging	0.74
R5592:Mucl3	UTSW	17	35,954,535 (GRCm39)	missense	probably damaging	0.99
R5733:Mucl3	UTSW	17	35,949,102 (GRCm39)	missense	probably benign	0.00
R7422:Mucl3	UTSW	17	35,949,312 (GRCm39)	missense	probably benign	0.00
R7689:Mucl3	UTSW	17	35,948,969 (GRCm39)	missense	possibly damaging	0.83
R7780:Mucl3	UTSW	17	35,947,874 (GRCm39)	missense	possibly damaging	0.95
R8079:Mucl3	UTSW	17	35,949,084 (GRCm39)	missense	unknown
R8320:Mucl3	UTSW	17	35,954,530 (GRCm39)	missense	probably benign	0.22
R8337:Mucl3	UTSW	17	35,948,486 (GRCm39)	missense	possibly damaging	0.95
R8867:Mucl3	UTSW	17	35,948,872 (GRCm39)	missense	probably benign	0.27

Predicted Primers

PCR Primer
(F):5'- ATGGGACTCGCTCTCATACC -3'
(R):5'- AGGGTCTTACTCATAGAGCCTC -3'

Sequencing Primer
(F):5'- CATACCTGATTTCGTCGTTAAGCTGG -3'
(R):5'- GGGTCTTACTCATAGAGCCTCTTCTG -3'

Posted On

2022-11-14