Mutagenetix > Incidental Mutation

Incidental Mutation 'R4394:Bahd1'

326515

Institutional Source

Beutler Lab

Gene Symbol

Bahd1

Ensembl Gene

ENSMUSG00000040007

Gene Name

bromo adjacent homology domain containing 1

Synonyms

LOC228536

MMRRC Submission

041683-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4394 (G1)

Quality Score

220

Status

Validated

Chromosome

Chromosomal Location

118730858-118755009 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 118753004 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 757 (R757H)

Ref Sequence

ENSEMBL: ENSMUSP00000043130 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036578] [ENSMUST00000099546] [ENSMUST00000110837]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000036578
AA Change: R757H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000043130
Gene: ENSMUSG00000040007
AA Change: R757H

Domain	Start	End	E-Value	Type
low complexity region	86	108	N/A	INTRINSIC
low complexity region	117	141	N/A	INTRINSIC
low complexity region	299	310	N/A	INTRINSIC
low complexity region	564	579	N/A	INTRINSIC
BAH	616	771	1.17e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000099546

SMART Domains

Protein: ENSMUSP00000099579
Gene: ENSMUSG00000074916

Domain	Start	End	E-Value	Type
low complexity region	18	42	N/A	INTRINSIC
Pfam:Sulfotransfer_2	139	365	1.6e-56	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110837

SMART Domains

Protein: ENSMUSP00000106461
Gene: ENSMUSG00000074916

Domain	Start	End	E-Value	Type
low complexity region	18	42	N/A	INTRINSIC
Pfam:Sulfotransfer_2	135	340	1.5e-41	PFAM

Meta Mutation Damage Score

0.8159

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.8%
20x: 93.4%

Validation Efficiency

99% (69/70)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased susceptibility to bacterial infection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb1	A	G	6: 88,813,566 (GRCm39)	F391L	probably damaging	Het
AC140205.10	C	A	8: 21,323,181 (GRCm39)	T192K	probably benign	Het
Arid4b	T	A	13: 14,329,557 (GRCm39)		probably null	Het
Brip1	A	T	11: 85,965,124 (GRCm39)	N855K	possibly damaging	Het
Ces2f	A	G	8: 105,677,586 (GRCm39)	N197S	probably damaging	Het
Chd4	A	G	6: 125,098,581 (GRCm39)	T1520A	probably damaging	Het
Cltc	A	C	11: 86,624,456 (GRCm39)	N159K	probably damaging	Het
Cntn1	C	T	15: 92,189,645 (GRCm39)	T656I	probably damaging	Het
Crybg3	A	G	16: 59,380,458 (GRCm39)		probably benign	Het
Dzip1l	T	A	9: 99,521,907 (GRCm39)	L181H	probably damaging	Het
Fam3b	C	A	16: 97,282,986 (GRCm39)		probably null	Het
Fat1	T	A	8: 45,405,383 (GRCm39)	N711K	probably damaging	Het
Fat3	A	G	9: 15,834,088 (GRCm39)	I4168T	probably benign	Het
Fbxw20	T	C	9: 109,061,398 (GRCm39)	D117G	probably benign	Het
Gm8122	A	G	14: 43,091,525 (GRCm39)	L81P	unknown	Het
Hal	T	C	10: 93,332,421 (GRCm39)		probably benign	Het
Hgf	T	A	5: 16,823,949 (GRCm39)	Y715*	probably null	Het
Hid1	T	A	11: 115,258,468 (GRCm39)		probably benign	Het
Hyou1	T	A	9: 44,293,169 (GRCm39)	V125E	probably damaging	Het
Jrkl	G	A	9: 13,245,146 (GRCm39)	Q172*	probably null	Het
Lamc3	A	G	2: 31,821,964 (GRCm39)	E1304G	probably benign	Het
Lman2l	A	C	1: 36,478,804 (GRCm39)	C103G	probably damaging	Het
Lrfn5	T	C	12: 61,890,276 (GRCm39)	S522P	probably damaging	Het
Mark3	A	T	12: 111,570,957 (GRCm39)	I86L	possibly damaging	Het
Mfsd13a	C	T	19: 46,360,431 (GRCm39)	R328C	probably damaging	Het
Mgst2	G	A	3: 51,571,949 (GRCm39)	V26I	probably damaging	Het
Neb	A	T	2: 52,077,525 (GRCm39)	Y158*	probably null	Het
Nipbl	T	C	15: 8,391,345 (GRCm39)	I210V	probably benign	Het
Or7g18	A	T	9: 18,786,907 (GRCm39)	I95L	probably damaging	Het
Or8j3b	C	T	2: 86,205,523 (GRCm39)	A78T	possibly damaging	Het
Pcdhb8	C	T	18: 37,489,935 (GRCm39)	P538S	probably damaging	Het
Postn	A	G	3: 54,278,376 (GRCm39)	D295G	probably damaging	Het
Prss38	T	C	11: 59,263,854 (GRCm39)	Y286C	probably damaging	Het
Psen2	A	T	1: 180,068,347 (GRCm39)	V102E	probably damaging	Het
Ptpn9	A	T	9: 56,943,847 (GRCm39)	K126N	possibly damaging	Het
Ptprd	A	G	4: 76,046,922 (GRCm39)	I435T	probably damaging	Het
Rab39	T	C	9: 53,597,950 (GRCm39)	K105R	probably benign	Het
Robo2	C	A	16: 73,745,267 (GRCm39)	R840L	probably benign	Het
Rps6ka5	T	A	12: 100,547,578 (GRCm39)	I311F	probably damaging	Het
Ryr1	G	T	7: 28,793,667 (GRCm39)	T1267K	possibly damaging	Het
Sis	G	A	3: 72,863,482 (GRCm39)	T252I	probably damaging	Het
Slc41a3	A	T	6: 90,612,312 (GRCm39)	S201C	probably damaging	Het
Slitrk1	A	C	14: 109,148,735 (GRCm39)	S659A	probably benign	Het
Snx25	A	T	8: 46,488,715 (GRCm39)	M880K	probably damaging	Het
Tbxas1	C	T	6: 39,004,713 (GRCm39)	T320I	probably benign	Het
Tex44	T	C	1: 86,355,489 (GRCm39)	V466A	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tnxb	C	T	17: 34,897,636 (GRCm39)	Q804*	probably null	Het
Tpst1	T	A	5: 130,131,343 (GRCm39)	M271K	probably benign	Het
Trank1	C	T	9: 111,194,265 (GRCm39)	T763I	possibly damaging	Het
Trip12	A	T	1: 84,703,462 (GRCm39)	H729Q	probably damaging	Het
Tshz3	A	T	7: 36,469,030 (GRCm39)	T340S	probably damaging	Het
Ttc5	T	C	14: 51,018,962 (GRCm39)	K52E	probably benign	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,139,706 (GRCm39)		probably benign	Het
Vmn2r79	A	G	7: 86,651,099 (GRCm39)	H166R	possibly damaging	Het
Wsb2	T	G	5: 117,501,643 (GRCm39)		probably benign	Het

Other mutations in Bahd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02113:Bahd1	APN	2	118,747,686 (GRCm39)	missense	probably benign	0.01
IGL02425:Bahd1	APN	2	118,749,645 (GRCm39)	missense	probably benign	0.00
IGL02548:Bahd1	APN	2	118,747,526 (GRCm39)	missense	possibly damaging	0.79
IGL03024:Bahd1	APN	2	118,746,597 (GRCm39)	missense	probably damaging	1.00
R0932:Bahd1	UTSW	2	118,746,408 (GRCm39)	missense	probably damaging	1.00
R1737:Bahd1	UTSW	2	118,746,404 (GRCm39)	missense	probably damaging	1.00
R2845:Bahd1	UTSW	2	118,753,004 (GRCm39)	missense	probably damaging	1.00
R2846:Bahd1	UTSW	2	118,753,004 (GRCm39)	missense	probably damaging	1.00
R2899:Bahd1	UTSW	2	118,746,887 (GRCm39)	missense	probably damaging	1.00
R2900:Bahd1	UTSW	2	118,746,887 (GRCm39)	missense	probably damaging	1.00
R2966:Bahd1	UTSW	2	118,746,887 (GRCm39)	missense	probably damaging	1.00
R2985:Bahd1	UTSW	2	118,753,004 (GRCm39)	missense	probably damaging	1.00
R2986:Bahd1	UTSW	2	118,753,004 (GRCm39)	missense	probably damaging	1.00
R3017:Bahd1	UTSW	2	118,746,887 (GRCm39)	missense	probably damaging	1.00
R3018:Bahd1	UTSW	2	118,746,887 (GRCm39)	missense	probably damaging	1.00
R3019:Bahd1	UTSW	2	118,746,887 (GRCm39)	missense	probably damaging	1.00
R3020:Bahd1	UTSW	2	118,746,887 (GRCm39)	missense	probably damaging	1.00
R3021:Bahd1	UTSW	2	118,746,887 (GRCm39)	missense	probably damaging	1.00
R3033:Bahd1	UTSW	2	118,746,887 (GRCm39)	missense	probably damaging	1.00
R3040:Bahd1	UTSW	2	118,746,887 (GRCm39)	missense	probably damaging	1.00
R3431:Bahd1	UTSW	2	118,753,004 (GRCm39)	missense	probably damaging	1.00
R3432:Bahd1	UTSW	2	118,753,004 (GRCm39)	missense	probably damaging	1.00
R3617:Bahd1	UTSW	2	118,753,004 (GRCm39)	missense	probably damaging	1.00
R4319:Bahd1	UTSW	2	118,746,887 (GRCm39)	missense	probably damaging	1.00
R4395:Bahd1	UTSW	2	118,753,004 (GRCm39)	missense	probably damaging	1.00
R4418:Bahd1	UTSW	2	118,753,004 (GRCm39)	missense	probably damaging	1.00
R4456:Bahd1	UTSW	2	118,746,887 (GRCm39)	missense	probably damaging	1.00
R4462:Bahd1	UTSW	2	118,746,887 (GRCm39)	missense	probably damaging	1.00
R4484:Bahd1	UTSW	2	118,746,887 (GRCm39)	missense	probably damaging	1.00
R5537:Bahd1	UTSW	2	118,746,461 (GRCm39)	missense	probably damaging	0.96
R5556:Bahd1	UTSW	2	118,746,751 (GRCm39)	missense	probably damaging	1.00
R6490:Bahd1	UTSW	2	118,747,619 (GRCm39)	missense	probably benign	0.01
R6736:Bahd1	UTSW	2	118,746,456 (GRCm39)	missense	possibly damaging	0.54
R7604:Bahd1	UTSW	2	118,746,791 (GRCm39)	missense	probably benign
R8516:Bahd1	UTSW	2	118,747,452 (GRCm39)	missense	probably benign	0.03
R8956:Bahd1	UTSW	2	118,749,689 (GRCm39)	missense	probably damaging	1.00
Z1176:Bahd1	UTSW	2	118,752,884 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTAAAAGCAGTTGTGGTATGTC -3'
(R):5'- CCAAGCTGAGGGTCTAGATACC -3'

Sequencing Primer
(F):5'- CACTGCAGATTCTGTGCCATGG -3'
(R):5'- AAGCTGAGGGTCTAGATACCTTTCTC -3'

Posted On

2015-07-06