Mutagenetix > Incidental Mutation

Incidental Mutation 'R9432:Umad1'

713008

Institutional Source

Beutler Lab

Gene Symbol

Umad1

Ensembl Gene

ENSMUSG00000089862

Gene Name

UMAP1-MVP12 associated (UMA) domain containing 1

Synonyms

Gm16039

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.124) question?

Stock #

R9432 (G1)

Quality Score

115.008

Status

Not validated

Chromosome

Chromosomal Location

8259288-8428767 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 8401096 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 55 (H55R)

Ref Sequence

ENSEMBL: ENSMUSP00000124993 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000159168] [ENSMUST00000159335] [ENSMUST00000159378] [ENSMUST00000159433] [ENSMUST00000160705] [ENSMUST00000162034] [ENSMUST00000162564]

AlphaFold

E0CX23

Predicted Effect

probably benign
Transcript: ENSMUST00000159168

Predicted Effect

probably benign
Transcript: ENSMUST00000159335

Predicted Effect

probably benign
Transcript: ENSMUST00000159378

Predicted Effect

probably benign
Transcript: ENSMUST00000159433

Predicted Effect

unknown
Transcript: ENSMUST00000160705
AA Change: H55R

Predicted Effect

probably benign
Transcript: ENSMUST00000162034

SMART Domains

Protein: ENSMUSP00000124306
Gene: ENSMUSG00000089862

Domain	Start	End	E-Value	Type
low complexity region	40	51	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162564

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	T	C	5: 109,884,917 (GRCm39)	R314G	unknown	Het
Abca13	G	A	11: 9,244,559 (GRCm39)	V2141M	probably benign	Het
Abcc10	G	A	17: 46,634,710 (GRCm39)	A431V	possibly damaging	Het
Acod1	A	G	14: 103,292,414 (GRCm39)	R313G	probably damaging	Het
Adam3	G	T	8: 25,193,928 (GRCm39)	S361R	probably damaging	Het
Ahcyl2	C	T	6: 29,768,874 (GRCm39)	T113M	possibly damaging	Het
Ano8	C	A	8: 71,933,561 (GRCm39)	R577L	unknown	Het
Arhgef7	T	A	8: 11,869,646 (GRCm39)	S653R	probably damaging	Het
Atp10a	G	A	7: 58,469,418 (GRCm39)	V1090I	possibly damaging	Het
Birc6	A	G	17: 74,966,216 (GRCm39)	M4048V	probably benign	Het
C3	G	A	17: 57,530,950 (GRCm39)	P384S	probably damaging	Het
Camkk1	A	T	11: 72,928,757 (GRCm39)	E432V	probably damaging	Het
Celsr3	T	A	9: 108,726,032 (GRCm39)	V3087D	probably benign	Het
Ckap4	A	G	10: 84,363,543 (GRCm39)	S507P	probably damaging	Het
Coq6	G	A	12: 84,420,464 (GRCm39)	M471I	probably benign	Het
Csmd2	C	A	4: 128,171,004 (GRCm39)	H332Q		Het
Cxcr1	T	A	1: 74,231,231 (GRCm39)	N264Y	probably damaging	Het
Dchs2	C	A	3: 83,036,032 (GRCm39)	R260S	possibly damaging	Het
Elmod2	C	A	8: 84,057,761 (GRCm39)	A41S	possibly damaging	Het
Emilin2	G	A	17: 71,581,781 (GRCm39)	T315I	probably benign	Het
Eml1	A	G	12: 108,482,842 (GRCm39)	N487S	probably benign	Het
Epn1	G	T	7: 5,096,369 (GRCm39)	R221L	probably benign	Het
Faah	A	G	4: 115,874,772 (GRCm39)	V28A	probably benign	Het
Fbl	G	A	7: 27,876,689 (GRCm39)	R230H	probably benign	Het
Fsip2	C	T	2: 82,805,907 (GRCm39)	S742F	probably damaging	Het
Gm5460	A	G	14: 33,767,769 (GRCm39)	D184G	possibly damaging	Het
Gpatch2l	T	C	12: 86,307,408 (GRCm39)	V262A	probably damaging	Het
Grin2c	A	T	11: 115,142,052 (GRCm39)	L789*	probably null	Het
H1f0	C	T	15: 78,912,947 (GRCm39)	P9L	probably damaging	Het
Hectd4	A	G	5: 121,460,864 (GRCm39)	T948A	probably benign	Het
Herc2	G	A	7: 55,780,932 (GRCm39)	G1199D	probably damaging	Het
Hoxb7	G	T	11: 96,177,617 (GRCm39)	A22S	possibly damaging	Het
Ifih1	T	A	2: 62,439,618 (GRCm39)	I519F	probably damaging	Het
Ifit1bl1	T	A	19: 34,571,498 (GRCm39)	I320F	possibly damaging	Het
Iqgap2	T	C	13: 95,774,261 (GRCm39)	T1320A	probably benign	Het
Kat2a	A	G	11: 100,602,178 (GRCm39)	V192A	probably damaging	Het
Kat6b	A	C	14: 21,672,077 (GRCm39)	H329P	probably damaging	Het
Klhl29	A	G	12: 5,260,056 (GRCm39)	L54P	probably benign	Het
Kntc1	A	T	5: 123,925,112 (GRCm39)	I1142F	possibly damaging	Het
Lipo3	A	G	19: 33,533,864 (GRCm39)	Y323H	probably damaging	Het
Lmtk3	G	A	7: 45,441,994 (GRCm39)	V351I	probably damaging	Het
Lrrc8b	T	C	5: 105,633,888 (GRCm39)	S787P	probably benign	Het
Magi1	A	G	6: 93,660,058 (GRCm39)	I1179T	probably damaging	Het
Mapk11	T	C	15: 89,028,631 (GRCm39)	D269G	probably benign	Het
Mfsd13a	T	G	19: 46,354,868 (GRCm39)	I15R	probably benign	Het
Myo1h	G	A	5: 114,499,366 (GRCm39)	V143I	possibly damaging	Het
Naaladl1	T	C	19: 6,156,917 (GRCm39)	I187T	possibly damaging	Het
Nos1	G	A	5: 118,034,871 (GRCm39)	V416M	probably damaging	Het
Or14a256	G	A	7: 86,265,065 (GRCm39)	R263C	possibly damaging	Het
Or14j8	A	G	17: 38,263,559 (GRCm39)	S119P	probably damaging	Het
Or8k30	T	G	2: 86,338,914 (GRCm39)	I37S	probably benign	Het
Pcdh15	A	G	10: 74,460,170 (GRCm39)	T1373A	probably damaging	Het
Pcdh18	T	G	3: 49,699,667 (GRCm39)	M932L	probably damaging	Het
Pcdhb15	T	A	18: 37,608,683 (GRCm39)	H638Q	probably benign	Het
Pcdhb19	A	G	18: 37,630,628 (GRCm39)	E141G	possibly damaging	Het
Pds5b	T	G	5: 150,693,256 (GRCm39)	L656R	probably damaging	Het
Plcl1	T	C	1: 55,445,587 (GRCm39)	L14P	probably benign	Het
Pzp	A	T	6: 128,499,128 (GRCm39)	I173N		Het
Rnf123	C	T	9: 107,937,008 (GRCm39)	R849H	probably damaging	Het
Sfrp5	T	C	19: 42,188,225 (GRCm39)	D198G	probably damaging	Het
Sftpb	G	C	6: 72,283,843 (GRCm39)	A147P	probably benign	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Slc30a6	A	G	17: 74,719,699 (GRCm39)	T220A	possibly damaging	Het
Slc5a3	T	A	16: 91,874,615 (GRCm39)	V224D	probably benign	Het
Smad5	T	A	13: 56,875,417 (GRCm39)	Y202N	probably benign	Het
Smok2b	A	G	17: 13,453,881 (GRCm39)	I14V	probably damaging	Het
Tas2r108	T	A	6: 40,471,121 (GRCm39)	I199K	probably damaging	Het
Tcea2	A	G	2: 181,322,227 (GRCm39)	I10V	probably damaging	Het
Tfg	G	A	16: 56,524,868 (GRCm39)	R113*	probably null	Het
Tubb4a	A	T	17: 57,388,034 (GRCm39)	L331I	probably benign	Het
Ugt2b37	A	G	5: 87,402,046 (GRCm39)	V195A	probably damaging	Het
Vmn1r176	A	T	7: 23,534,743 (GRCm39)	Y137N	probably damaging	Het
Vmn1r44	T	A	6: 89,870,473 (GRCm39)	M73K	possibly damaging	Het
Vmn2r112	A	G	17: 22,821,233 (GRCm39)	T69A		Het
Vmn2r59	A	T	7: 41,696,254 (GRCm39)	Y163N	probably damaging	Het
Vps13c	T	A	9: 67,830,137 (GRCm39)	D1514E	probably benign	Het
Vsir	A	G	10: 60,193,732 (GRCm39)	D65G	possibly damaging	Het
Ypel3	A	T	7: 126,379,262 (GRCm39)	M112L	probably benign	Het
Zfp26	T	A	9: 20,347,830 (GRCm39)	K911N	probably damaging	Het
Zfp362	C	T	4: 128,670,980 (GRCm39)	R346Q	probably damaging	Het
Zfp595	A	T	13: 67,465,407 (GRCm39)	Y288*	probably null	Het
Zfyve28	G	T	5: 34,400,633 (GRCm39)	Q22K	possibly damaging	Het
Zswim4	T	G	8: 84,963,539 (GRCm39)	D32A	probably damaging	Het

Other mutations in Umad1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1878:Umad1	UTSW	6	8,427,181 (GRCm39)	missense	probably damaging	1.00
R2403:Umad1	UTSW	6	8,427,161 (GRCm39)	missense	possibly damaging	0.84
R2439:Umad1	UTSW	6	8,427,078 (GRCm39)	missense	probably damaging	1.00
R4774:Umad1	UTSW	6	8,427,181 (GRCm39)	missense	probably damaging	1.00
R4816:Umad1	UTSW	6	8,457,462 (GRCm39)	intron	probably benign
R5068:Umad1	UTSW	6	8,401,157 (GRCm39)	splice site	probably null
R7130:Umad1	UTSW	6	8,427,185 (GRCm39)	missense	probably null	0.01
R7487:Umad1	UTSW	6	8,270,560 (GRCm39)	missense	probably damaging	1.00
R7654:Umad1	UTSW	6	8,426,995 (GRCm39)	missense	probably damaging	0.99
R7843:Umad1	UTSW	6	8,401,140 (GRCm39)	missense	unknown
R8103:Umad1	UTSW	6	8,427,121 (GRCm39)	missense	probably damaging	0.97
R9011:Umad1	UTSW	6	8,373,931 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AACTTGCGTTTCTGTGGAGCT -3'
(R):5'- TAAGATCTTCCTGGTCTCTTCACAT -3'

Sequencing Primer
(F):5'- GACTTTAGGCCCACTCCATGAG -3'
(R):5'- AAGACCTGGTGTAGACCCCTGTAG -3'

Posted On

2022-05-16