Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02800:Bahcc1'

360164

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Bahcc1

Ensembl Gene

ENSMUSG00000039741

Gene Name

BAH domain and coiled-coil containing 1

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.838) question?

Stock #

IGL02800

Quality Score

Status

Chromosome

Chromosomal Location

120123773-120183108 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120163760 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 686 (D686G)

Ref Sequence

ENSEMBL: ENSMUSP00000112827 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044985] [ENSMUST00000118987] [ENSMUST00000122148]

AlphaFold

Q3UHR0

Predicted Effect

probably damaging
Transcript: ENSMUST00000044985
AA Change: D686G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000043643
Gene: ENSMUSG00000039741
AA Change: D686G

Domain	Start	End	E-Value	Type
low complexity region	17	46	N/A	INTRINSIC
low complexity region	219	233	N/A	INTRINSIC
low complexity region	351	366	N/A	INTRINSIC
low complexity region	756	778	N/A	INTRINSIC
low complexity region	811	821	N/A	INTRINSIC
low complexity region	882	890	N/A	INTRINSIC
coiled coil region	931	976	N/A	INTRINSIC
low complexity region	1042	1059	N/A	INTRINSIC
low complexity region	1127	1139	N/A	INTRINSIC
low complexity region	1172	1183	N/A	INTRINSIC
low complexity region	1267	1277	N/A	INTRINSIC
coiled coil region	1346	1373	N/A	INTRINSIC
coiled coil region	1437	1486	N/A	INTRINSIC
low complexity region	1706	1711	N/A	INTRINSIC
low complexity region	1729	1740	N/A	INTRINSIC
low complexity region	1746	1764	N/A	INTRINSIC
low complexity region	1865	1891	N/A	INTRINSIC
low complexity region	2088	2104	N/A	INTRINSIC
low complexity region	2135	2158	N/A	INTRINSIC
low complexity region	2209	2224	N/A	INTRINSIC
low complexity region	2225	2245	N/A	INTRINSIC
low complexity region	2317	2332	N/A	INTRINSIC
low complexity region	2348	2387	N/A	INTRINSIC
low complexity region	2401	2410	N/A	INTRINSIC
low complexity region	2429	2447	N/A	INTRINSIC
BAH	2517	2637	4.19e-20	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000118987
AA Change: D686G

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

SMART Domains

Protein: ENSMUSP00000112784
Gene: ENSMUSG00000039741
AA Change: D686G

Domain	Start	End	E-Value	Type
low complexity region	17	46	N/A	INTRINSIC
low complexity region	219	233	N/A	INTRINSIC
low complexity region	351	366	N/A	INTRINSIC
low complexity region	756	778	N/A	INTRINSIC
low complexity region	811	821	N/A	INTRINSIC
low complexity region	882	890	N/A	INTRINSIC
coiled coil region	931	976	N/A	INTRINSIC
low complexity region	1042	1059	N/A	INTRINSIC
low complexity region	1127	1139	N/A	INTRINSIC
low complexity region	1172	1183	N/A	INTRINSIC
low complexity region	1267	1277	N/A	INTRINSIC
coiled coil region	1346	1373	N/A	INTRINSIC
coiled coil region	1437	1486	N/A	INTRINSIC
low complexity region	1706	1711	N/A	INTRINSIC
low complexity region	1729	1740	N/A	INTRINSIC
low complexity region	1746	1764	N/A	INTRINSIC
low complexity region	1865	1891	N/A	INTRINSIC
low complexity region	2088	2104	N/A	INTRINSIC
low complexity region	2135	2158	N/A	INTRINSIC
low complexity region	2209	2224	N/A	INTRINSIC
low complexity region	2225	2245	N/A	INTRINSIC
low complexity region	2317	2332	N/A	INTRINSIC
low complexity region	2348	2387	N/A	INTRINSIC
low complexity region	2401	2410	N/A	INTRINSIC
low complexity region	2429	2447	N/A	INTRINSIC
BAH	2517	2637	4.19e-20	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000122148
AA Change: D686G

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

SMART Domains

Protein: ENSMUSP00000112827
Gene: ENSMUSG00000039741
AA Change: D686G

Domain	Start	End	E-Value	Type
low complexity region	17	46	N/A	INTRINSIC
low complexity region	219	233	N/A	INTRINSIC
low complexity region	351	366	N/A	INTRINSIC
low complexity region	756	778	N/A	INTRINSIC
low complexity region	811	821	N/A	INTRINSIC
low complexity region	882	890	N/A	INTRINSIC
coiled coil region	931	976	N/A	INTRINSIC
low complexity region	1042	1059	N/A	INTRINSIC
low complexity region	1127	1139	N/A	INTRINSIC
low complexity region	1172	1183	N/A	INTRINSIC
low complexity region	1267	1277	N/A	INTRINSIC
coiled coil region	1346	1373	N/A	INTRINSIC
coiled coil region	1437	1486	N/A	INTRINSIC
low complexity region	1706	1711	N/A	INTRINSIC
low complexity region	1729	1740	N/A	INTRINSIC
low complexity region	1746	1764	N/A	INTRINSIC
low complexity region	1865	1891	N/A	INTRINSIC
low complexity region	2088	2104	N/A	INTRINSIC
low complexity region	2135	2158	N/A	INTRINSIC
low complexity region	2209	2224	N/A	INTRINSIC
low complexity region	2225	2245	N/A	INTRINSIC
low complexity region	2317	2332	N/A	INTRINSIC
low complexity region	2348	2387	N/A	INTRINSIC
low complexity region	2401	2410	N/A	INTRINSIC
low complexity region	2429	2447	N/A	INTRINSIC
BAH	2517	2637	4.19e-20	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197891

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous mutation of this gene results in perinatal lethality for the majority of mutants. Those that survive exhibit hind leg motor dysfunction. [provided by MGI curators]

Allele List at MGI

All alleles(26) : Targeted, knock-out(2) Gene trapped(24)

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg6	A	G	10: 14,296,349 (GRCm39)	I1045T	probably damaging	Het
Ankrd22	T	C	19: 34,143,181 (GRCm39)		probably benign	Het
Carns1	A	G	19: 4,216,569 (GRCm39)		probably benign	Het
Cc2d1b	C	T	4: 108,483,333 (GRCm39)	L306F	probably benign	Het
Ccdc153	A	G	9: 44,157,129 (GRCm39)	E135G	probably damaging	Het
Ccne1	T	C	7: 37,802,224 (GRCm39)	D148G	probably damaging	Het
Cfap57	A	T	4: 118,471,947 (GRCm39)	M144K	probably damaging	Het
Chd6	A	G	2: 160,826,552 (GRCm39)	V1049A	probably damaging	Het
Cpne9	A	G	6: 113,279,034 (GRCm39)	D476G	probably benign	Het
Dna2	T	C	10: 62,797,504 (GRCm39)		probably null	Het
Eif4h	T	C	5: 134,656,459 (GRCm39)	D77G	probably benign	Het
Fhl2	C	T	1: 43,167,562 (GRCm39)	R177Q	probably benign	Het
Fxyd5	C	T	7: 30,732,404 (GRCm39)	R176H	possibly damaging	Het
G6pd2	A	G	5: 61,966,735 (GRCm39)	E170G	probably damaging	Het
Haus3	A	G	5: 34,323,668 (GRCm39)	I314T	possibly damaging	Het
Igkv4-54	A	G	6: 69,608,862 (GRCm39)	V41A	probably damaging	Het
Kidins220	T	A	12: 25,053,092 (GRCm39)	C461S	probably damaging	Het
Lsr	T	C	7: 30,657,838 (GRCm39)	D442G	probably damaging	Het
Mecom	T	C	3: 30,015,183 (GRCm39)	I847V	probably damaging	Het
Mia2	C	T	12: 59,235,277 (GRCm39)	R1326*	probably null	Het
Myo15a	C	A	11: 60,393,195 (GRCm39)	H2240N	probably damaging	Het
Or1e17	A	G	11: 73,831,942 (GRCm39)	Y290C	probably damaging	Het
Or4f62	A	T	2: 111,986,589 (GRCm39)	I98F	possibly damaging	Het
Osgep	T	A	14: 51,153,314 (GRCm39)		probably benign	Het
Pcnt	G	A	10: 76,248,417 (GRCm39)	Q901*	probably null	Het
Pgm3	T	C	9: 86,437,431 (GRCm39)	E481G	possibly damaging	Het
Plch1	T	A	3: 63,605,899 (GRCm39)	D1326V	probably benign	Het
Rabgap1l	T	C	1: 160,299,623 (GRCm39)	D590G	possibly damaging	Het
Rapsn	A	G	2: 90,873,584 (GRCm39)	M244V	probably benign	Het
Rcbtb2	T	A	14: 73,405,543 (GRCm39)	Y299*	probably null	Het
Slc8a1	A	T	17: 81,715,752 (GRCm39)	D760E	probably benign	Het
Smim23	C	A	11: 32,774,424 (GRCm39)		probably null	Het
Sva	A	G	6: 42,017,069 (GRCm39)	T59A	unknown	Het
Tacc2	T	A	7: 130,225,809 (GRCm39)	D831E	probably benign	Het
Tasor2	T	C	13: 3,635,154 (GRCm39)	N551S	probably benign	Het
Tg	G	T	15: 66,629,735 (GRCm39)	W472L	probably damaging	Het
Tmem231	A	G	8: 112,640,664 (GRCm39)	V283A	probably benign	Het
Traf4	A	T	11: 78,051,061 (GRCm39)	I365N	possibly damaging	Het
Usf3	G	A	16: 44,039,459 (GRCm39)	S1313N	probably benign	Het
Vangl1	G	A	3: 102,070,611 (GRCm39)		probably benign	Het
Wdr70	T	C	15: 8,111,980 (GRCm39)	S88G	probably benign	Het

Other mutations in Bahcc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00341:Bahcc1	APN	11	120,163,130 (GRCm39)	missense	probably damaging	1.00
IGL00536:Bahcc1	APN	11	120,175,871 (GRCm39)	missense	probably damaging	0.96
IGL01339:Bahcc1	APN	11	120,180,338 (GRCm39)	missense	probably damaging	1.00
IGL01695:Bahcc1	APN	11	120,167,435 (GRCm39)	missense	probably benign	0.02
IGL01744:Bahcc1	APN	11	120,162,563 (GRCm39)	missense	probably benign	0.02
IGL01769:Bahcc1	APN	11	120,171,030 (GRCm39)	splice site	probably benign
IGL01982:Bahcc1	APN	11	120,178,299 (GRCm39)	missense	probably damaging	1.00
IGL02341:Bahcc1	APN	11	120,163,346 (GRCm39)	missense	probably damaging	1.00
IGL02535:Bahcc1	APN	11	120,178,362 (GRCm39)	missense	possibly damaging	0.88
IGL02559:Bahcc1	APN	11	120,175,998 (GRCm39)	missense	probably damaging	0.97
IGL02579:Bahcc1	APN	11	120,176,175 (GRCm39)	splice site	probably benign
IGL02609:Bahcc1	APN	11	120,180,224 (GRCm39)	missense	possibly damaging	0.93
IGL02678:Bahcc1	APN	11	120,163,697 (GRCm39)	missense	probably damaging	1.00
IGL02963:Bahcc1	APN	11	120,165,758 (GRCm39)	missense	possibly damaging	0.86
IGL03128:Bahcc1	APN	11	120,159,260 (GRCm39)	splice site	probably benign
IGL03242:Bahcc1	APN	11	120,159,126 (GRCm39)	splice site	probably benign
IGL03248:Bahcc1	APN	11	120,159,235 (GRCm39)	missense	probably damaging	1.00
Dimensionality	UTSW	11	120,163,835 (GRCm39)	missense	probably damaging	1.00
G1citation:Bahcc1	UTSW	11	120,178,547 (GRCm39)	missense	probably damaging	1.00
R0019:Bahcc1	UTSW	11	120,180,597 (GRCm39)	missense	probably damaging	1.00
R0040:Bahcc1	UTSW	11	120,159,196 (GRCm39)	missense	probably damaging	1.00
R0040:Bahcc1	UTSW	11	120,159,196 (GRCm39)	missense	probably damaging	1.00
R0148:Bahcc1	UTSW	11	120,159,230 (GRCm39)	missense	probably damaging	1.00
R0164:Bahcc1	UTSW	11	120,175,900 (GRCm39)	splice site	probably benign
R0321:Bahcc1	UTSW	11	120,164,251 (GRCm39)	critical splice donor site	probably null
R0671:Bahcc1	UTSW	11	120,178,146 (GRCm39)	missense	probably damaging	1.00
R0737:Bahcc1	UTSW	11	120,163,667 (GRCm39)	missense	probably damaging	1.00
R1452:Bahcc1	UTSW	11	120,173,065 (GRCm39)	splice site	probably benign
R1570:Bahcc1	UTSW	11	120,163,009 (GRCm39)	missense	possibly damaging	0.74
R1914:Bahcc1	UTSW	11	120,176,225 (GRCm39)	missense	probably damaging	1.00
R2010:Bahcc1	UTSW	11	120,163,604 (GRCm39)	missense	probably damaging	1.00
R2075:Bahcc1	UTSW	11	120,162,515 (GRCm39)	missense	probably damaging	1.00
R2085:Bahcc1	UTSW	11	120,178,908 (GRCm39)	missense	probably damaging	1.00
R3552:Bahcc1	UTSW	11	120,167,598 (GRCm39)	missense	possibly damaging	0.90
R3711:Bahcc1	UTSW	11	120,165,923 (GRCm39)	missense	probably benign	0.27
R3804:Bahcc1	UTSW	11	120,174,184 (GRCm39)	missense	probably benign	0.01
R4349:Bahcc1	UTSW	11	120,150,027 (GRCm39)	missense	probably damaging	1.00
R4557:Bahcc1	UTSW	11	120,165,914 (GRCm39)	missense	probably damaging	1.00
R4801:Bahcc1	UTSW	11	120,173,051 (GRCm39)	missense	probably benign	0.00
R4802:Bahcc1	UTSW	11	120,173,051 (GRCm39)	missense	probably benign	0.00
R4908:Bahcc1	UTSW	11	120,178,580 (GRCm39)	missense	probably benign	0.36
R4941:Bahcc1	UTSW	11	120,177,491 (GRCm39)	missense	probably benign
R5217:Bahcc1	UTSW	11	120,165,285 (GRCm39)	nonsense	probably null
R5241:Bahcc1	UTSW	11	120,162,229 (GRCm39)	missense	probably damaging	1.00
R5432:Bahcc1	UTSW	11	120,178,814 (GRCm39)	missense	probably benign	0.02
R5696:Bahcc1	UTSW	11	120,164,813 (GRCm39)	missense	probably damaging	1.00
R5724:Bahcc1	UTSW	11	120,176,192 (GRCm39)	missense	possibly damaging	0.78
R5725:Bahcc1	UTSW	11	120,165,714 (GRCm39)	missense	probably benign
R5788:Bahcc1	UTSW	11	120,177,178 (GRCm39)	missense	probably damaging	1.00
R5893:Bahcc1	UTSW	11	120,176,256 (GRCm39)	missense	probably damaging	0.99
R5900:Bahcc1	UTSW	11	120,175,319 (GRCm39)	missense	probably damaging	1.00
R6014:Bahcc1	UTSW	11	120,180,615 (GRCm39)	missense	probably benign	0.00
R6058:Bahcc1	UTSW	11	120,178,211 (GRCm39)	missense	probably damaging	1.00
R6107:Bahcc1	UTSW	11	120,163,714 (GRCm39)	missense	probably benign	0.00
R6302:Bahcc1	UTSW	11	120,167,634 (GRCm39)	missense	probably damaging	1.00
R6525:Bahcc1	UTSW	11	120,176,048 (GRCm39)	missense	probably damaging	1.00
R6550:Bahcc1	UTSW	11	120,167,477 (GRCm39)	missense	possibly damaging	0.94
R6822:Bahcc1	UTSW	11	120,178,547 (GRCm39)	missense	probably damaging	1.00
R6836:Bahcc1	UTSW	11	120,162,583 (GRCm39)	nonsense	probably null
R6846:Bahcc1	UTSW	11	120,162,422 (GRCm39)	missense	possibly damaging	0.92
R6916:Bahcc1	UTSW	11	120,163,835 (GRCm39)	missense	probably damaging	1.00
R6966:Bahcc1	UTSW	11	120,173,985 (GRCm39)	missense	probably damaging	0.99
R7097:Bahcc1	UTSW	11	120,163,472 (GRCm39)	missense	possibly damaging	0.87
R7289:Bahcc1	UTSW	11	120,171,000 (GRCm39)	missense	probably benign	0.08
R7441:Bahcc1	UTSW	11	120,177,132 (GRCm39)	missense	probably damaging	0.99
R7520:Bahcc1	UTSW	11	120,167,031 (GRCm39)	missense	possibly damaging	0.47
R7556:Bahcc1	UTSW	11	120,178,589 (GRCm39)	missense	probably damaging	1.00
R7672:Bahcc1	UTSW	11	120,174,172 (GRCm39)	missense	possibly damaging	0.63
R7791:Bahcc1	UTSW	11	120,159,203 (GRCm39)	missense	probably damaging	1.00
R7794:Bahcc1	UTSW	11	120,163,507 (GRCm39)	nonsense	probably null
R7802:Bahcc1	UTSW	11	120,165,518 (GRCm39)	missense	probably benign	0.03
R7946:Bahcc1	UTSW	11	120,163,325 (GRCm39)	missense	probably benign
R7985:Bahcc1	UTSW	11	120,163,717 (GRCm39)	missense	probably damaging	0.97
R8128:Bahcc1	UTSW	11	120,163,216 (GRCm39)	nonsense	probably null
R8131:Bahcc1	UTSW	11	120,163,664 (GRCm39)	missense	probably benign	0.01
R8353:Bahcc1	UTSW	11	120,165,251 (GRCm39)	missense	probably damaging	1.00
R8439:Bahcc1	UTSW	11	120,165,415 (GRCm39)	missense	probably benign	0.01
R8710:Bahcc1	UTSW	11	120,174,953 (GRCm39)	missense	probably damaging	1.00
R8799:Bahcc1	UTSW	11	120,177,173 (GRCm39)	missense	probably damaging	1.00
R8810:Bahcc1	UTSW	11	120,164,587 (GRCm39)	missense	possibly damaging	0.76
R8920:Bahcc1	UTSW	11	120,175,331 (GRCm39)	missense	probably damaging	1.00
R8924:Bahcc1	UTSW	11	120,167,591 (GRCm39)	missense	probably benign	0.09
R9014:Bahcc1	UTSW	11	120,173,048 (GRCm39)	missense	probably benign
R9014:Bahcc1	UTSW	11	120,163,715 (GRCm39)	missense	probably benign	0.00
R9195:Bahcc1	UTSW	11	120,167,337 (GRCm39)	missense	probably benign
R9216:Bahcc1	UTSW	11	120,177,514 (GRCm39)	missense	probably damaging	1.00
R9328:Bahcc1	UTSW	11	120,165,885 (GRCm39)	missense	possibly damaging	0.61
R9392:Bahcc1	UTSW	11	120,163,513 (GRCm39)	nonsense	probably null
R9562:Bahcc1	UTSW	11	120,150,035 (GRCm39)	missense	possibly damaging	0.87
R9680:Bahcc1	UTSW	11	120,163,286 (GRCm39)	missense	possibly damaging	0.92
R9797:Bahcc1	UTSW	11	120,159,147 (GRCm39)	nonsense	probably null
X0026:Bahcc1	UTSW	11	120,162,578 (GRCm39)	missense	probably benign	0.20
Z1176:Bahcc1	UTSW	11	120,175,220 (GRCm39)	missense	probably benign	0.00
Z1176:Bahcc1	UTSW	11	120,167,435 (GRCm39)	missense	possibly damaging	0.89
Z1177:Bahcc1	UTSW	11	120,163,747 (GRCm39)	missense	possibly damaging	0.73

Posted On

2015-12-18