Mutagenetix > Incidental Mutation

Incidental Mutation 'R6836:Bahcc1'

534582

Institutional Source

Beutler Lab

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 #

R6836 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120123773-120183108 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 120162583 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 294 (K294*)

Ref Sequence

ENSEMBL: ENSMUSP00000112827 (fasta)

Gene Model

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

AlphaFold

Q3UHR0

Predicted Effect

probably null
Transcript: ENSMUST00000044985
AA Change: K294*

SMART Domains

Protein: ENSMUSP00000043643
Gene: ENSMUSG00000039741
AA Change: K294*

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 null
Transcript: ENSMUST00000118987
AA Change: K294*

SMART Domains

Protein: ENSMUSP00000112784
Gene: ENSMUSG00000039741
AA Change: K294*

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 null
Transcript: ENSMUST00000122148
AA Change: K294*

SMART Domains

Protein: ENSMUSP00000112827
Gene: ENSMUSG00000039741
AA Change: K294*

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

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

100% (62/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl2	T	C	2: 26,971,718 (GRCm39)	M1T	probably null	Het
Aim2	C	G	1: 173,291,546 (GRCm39)	T317R	probably damaging	Het
Alox8	T	C	11: 69,077,331 (GRCm39)	Y473C	probably damaging	Het
Alox8	T	C	11: 69,080,715 (GRCm39)	R209G	possibly damaging	Het
Asb5	A	G	8: 55,038,106 (GRCm39)	M210V	probably benign	Het
Atp2c2	T	A	8: 120,461,154 (GRCm39)	L249Q	probably damaging	Het
AU018091	T	G	7: 3,213,986 (GRCm39)	D77A	probably damaging	Het
Baz2b	C	T	2: 59,747,769 (GRCm39)	R1298Q	probably damaging	Het
Bivm	T	A	1: 44,182,296 (GRCm39)	N501K	possibly damaging	Het
Bpifb5	T	A	2: 154,069,985 (GRCm39)	I145N	probably benign	Het
Casq2	A	T	3: 101,994,076 (GRCm39)	N41I	probably damaging	Het
Ccdc18	T	C	5: 108,345,833 (GRCm39)	L993P	probably damaging	Het
Cdcp3	A	T	7: 130,798,233 (GRCm39)	I81F	possibly damaging	Het
Cfap44	A	G	16: 44,224,442 (GRCm39)	D50G	probably damaging	Het
Clca3a2	T	A	3: 144,512,144 (GRCm39)	I91F	probably damaging	Het
Crebbp	T	A	16: 3,997,886 (GRCm39)	H66L	possibly damaging	Het
Cyfip2	T	C	11: 46,163,467 (GRCm39)	T321A	probably benign	Het
Dido1	A	G	2: 180,304,100 (GRCm39)	V1268A	probably benign	Het
E030030I06Rik	A	C	10: 22,024,391 (GRCm39)	V174G	probably damaging	Het
Gm20730	G	T	6: 43,058,767 (GRCm39)		probably null	Het
Gm36176	T	C	10: 77,682,976 (GRCm39)		probably benign	Het
Gper1	T	A	5: 139,412,435 (GRCm39)	M260K	probably damaging	Het
Igfbp2	T	C	1: 72,888,817 (GRCm39)	L89P	probably damaging	Het
Katnal1	T	C	5: 148,830,974 (GRCm39)	N200S	probably damaging	Het
Kcnk13	G	T	12: 100,027,948 (GRCm39)	R341L	probably damaging	Het
Klhl20	T	A	1: 160,932,976 (GRCm39)	E277D	probably benign	Het
Lingo1	T	C	9: 56,527,056 (GRCm39)	Y517C	probably damaging	Het
Lrrk1	C	T	7: 65,992,527 (GRCm39)	E82K	probably benign	Het
Mtor	T	A	4: 148,573,955 (GRCm39)	V1275D	possibly damaging	Het
Ncan	C	T	8: 70,552,965 (GRCm39)	S1089N	possibly damaging	Het
Notch4	C	T	17: 34,805,074 (GRCm39)	T1643I	probably damaging	Het
Or13a25	A	C	7: 140,248,093 (GRCm39)	I298L	possibly damaging	Het
Or1i2	A	G	10: 78,448,424 (GRCm39)	L17P	probably damaging	Het
Or2y15	A	T	11: 49,350,904 (GRCm39)	T133S	possibly damaging	Het
Or4c10	T	C	2: 89,760,683 (GRCm39)	C177R	probably damaging	Het
Pcdhgb6	T	C	18: 37,876,015 (GRCm39)	V241A	probably benign	Het
Phf11b	T	A	14: 59,565,572 (GRCm39)	T102S	possibly damaging	Het
Pkd1	T	A	17: 24,800,233 (GRCm39)	V2998E	probably damaging	Het
Ppp1r13b	T	C	12: 111,801,629 (GRCm39)	S352G	probably benign	Het
Ptprh	C	T	7: 4,554,134 (GRCm39)	V778M	probably damaging	Het
Ptprz1	C	T	6: 23,030,664 (GRCm39)	Q1008*	probably null	Het
Ralgapa1	A	T	12: 55,651,058 (GRCm39)		probably null	Het
Rbm20	G	A	19: 53,802,500 (GRCm39)	G336E	probably damaging	Het
Sdsl	T	C	5: 120,600,167 (GRCm39)	I77V	probably benign	Het
Serpina3b	G	A	12: 104,100,341 (GRCm39)	E308K	probably benign	Het
Sfrp5	G	A	19: 42,190,149 (GRCm39)	T101I	probably damaging	Het
Slc2a13	C	T	15: 91,205,835 (GRCm39)	V451I	probably benign	Het
Slc6a9	C	T	4: 117,725,083 (GRCm39)	A559V	possibly damaging	Het
Spg11	C	T	2: 121,890,016 (GRCm39)	A2109T	probably damaging	Het
Stard9	C	T	2: 120,530,324 (GRCm39)	R2194C	probably benign	Het
Tfeb	T	C	17: 48,097,123 (GRCm39)		probably null	Het
Tiam2	T	A	17: 3,464,655 (GRCm39)	I128N	probably benign	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Tpr	T	G	1: 150,312,424 (GRCm39)		probably null	Het
Traf3ip1	T	C	1: 91,448,722 (GRCm39)	I456T	probably benign	Het
Ttll4	T	A	1: 74,728,572 (GRCm39)	D892E	probably damaging	Het
Ubr1	T	A	2: 120,727,156 (GRCm39)		probably null	Het
Vmn2r74	T	A	7: 85,606,630 (GRCm39)	I239F	probably benign	Het
Wdfy3	C	T	5: 102,100,865 (GRCm39)	V251M	probably damaging	Het
Xylb	T	A	9: 119,220,820 (GRCm39)	L531H	probably damaging	Het
Zfp960	T	A	17: 17,308,434 (GRCm39)	C383S	probably damaging	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
IGL02800:Bahcc1	APN	11	120,163,760 (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
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

Predicted Primers

PCR Primer
(F):5'- GCTTCCTCATGGGTAAAGAGGTG -3'
(R):5'- CCAGAGGGTACTGTGTAGGATAC -3'

Sequencing Primer
(F):5'- TTAGCAAGGGAGCAGAGGGC -3'
(R):5'- CTGTGTAGGATACAGCATGATGC -3'

Posted On

2018-09-12