Mutagenetix > Incidental Mutations

Incidental Mutation 'R5241:Bahcc1'

400841

Institutional Source

Beutler Lab

Gene Symbol

Bahcc1

Ensembl Gene

ENSMUSG00000039741

Gene Name

BAH domain and coiled-coil containing 1

Synonyms

KIAA1447

MMRRC Submission

042812-MU

Accession Numbers

Genbank: NM_198423; MGI: 2679272

Is this an essential gene?

Probably essential (E-score: 0.798) question?

Stock #

R5241 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120232947-120292296 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 120271403 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 176 (P176T)

Ref Sequence

ENSEMBL: ENSMUSP00000043643 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000044985
AA Change: P176T

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

SMART Domains

Protein: ENSMUSP00000043643
Gene: ENSMUSG00000039741
AA Change: P176T

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: P176T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112784
Gene: ENSMUSG00000039741
AA Change: P176T

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: P176T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112827
Gene: ENSMUSG00000039741
AA Change: P176T

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

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 91.8%

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930033H14Rik	A	G	10: 69,212,751		probably null	Het
Adgrb3	T	C	1: 25,111,790	T881A	possibly damaging	Het
Adgrv1	A	T	13: 81,488,929	C3464*	probably null	Het
Afp	A	G	5: 90,501,614	M347V	probably benign	Het
Apc2	A	G	10: 80,312,234	T1041A	probably benign	Het
Atl1	T	C	12: 69,959,113	S398P	possibly damaging	Het
Atp8b4	G	A	2: 126,383,726	P528L	probably benign	Het
Bsnd	A	G	4: 106,487,985	V88A	probably benign	Het
Dnah7c	T	A	1: 46,530,500	F687Y	probably benign	Het
Dok6	T	C	18: 89,598,789	I23M	possibly damaging	Het
Fcgbp	A	T	7: 28,085,199	D228V	probably damaging	Het
Gatad2a	G	A	8: 69,918,017	Q107*	probably null	Het
Glis3	G	T	19: 28,350,023	T663K	probably benign	Het
Gm10784	T	A	13: 49,945,093		noncoding transcript	Het
Gsdmc2	C	T	15: 63,824,894	R476H	probably benign	Het
Gsdmc3	A	G	15: 63,864,146	S202P	possibly damaging	Het
Map3k8	T	C	18: 4,340,750	E188G	probably damaging	Het
Mccc1	T	A	3: 35,974,196	Q487L	probably benign	Het
Msantd1	A	G	5: 34,921,469	D116G	probably damaging	Het
Myh1	T	A	11: 67,204,449	S212T	probably benign	Het
Nr1h4	A	G	10: 89,483,489	Y158H	probably damaging	Het
Olfr1180	T	C	2: 88,412,098	T187A	possibly damaging	Het
Olfr421-ps1	T	A	1: 174,152,101	I195N	probably benign	Het
Olfr585	T	C	7: 103,098,317	V192A	probably benign	Het
Pcnt	A	T	10: 76,433,617	H272Q	probably benign	Het
Pdia5	T	C	16: 35,429,775	N242S	probably benign	Het
Pkd1l2	A	T	8: 117,035,118	D1441E	probably damaging	Het
Runx2	G	T	17: 44,639,777	Y203*	probably null	Het
Sdr9c7	T	G	10: 127,909,790	I257S	probably benign	Het
Slitrk1	A	G	14: 108,913,012	M89T	probably benign	Het
St14	G	T	9: 31,100,418	C397*	probably null	Het
Tas2r123	T	C	6: 132,847,218	I26T	probably benign	Het
Tmem144	A	T	3: 79,814,124	M329K	probably benign	Het
Tmem252	T	C	19: 24,674,127	M20T	probably benign	Het
Umodl1	T	C	17: 30,984,092	V473A	probably benign	Het
Wdr70	A	G	15: 8,079,216	C149R	probably benign	Het
Xirp2	C	T	2: 67,482,360	R58*	probably null	Het
Zer1	A	C	2: 30,104,970	L471R	probably damaging	Het
Zfp101	C	T	17: 33,382,236	C182Y	probably benign	Het

Other mutations in Bahcc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00341:Bahcc1	APN	11	120272304	missense	probably damaging	1.00
IGL00536:Bahcc1	APN	11	120285045	missense	probably damaging	0.96
IGL01339:Bahcc1	APN	11	120289512	missense	probably damaging	1.00
IGL01695:Bahcc1	APN	11	120276609	missense	probably benign	0.02
IGL01744:Bahcc1	APN	11	120271737	missense	probably benign	0.02
IGL01769:Bahcc1	APN	11	120280204	splice site	probably benign
IGL01982:Bahcc1	APN	11	120287473	missense	probably damaging	1.00
IGL02341:Bahcc1	APN	11	120272520	missense	probably damaging	1.00
IGL02535:Bahcc1	APN	11	120287536	missense	possibly damaging	0.88
IGL02559:Bahcc1	APN	11	120285172	missense	probably damaging	0.97
IGL02579:Bahcc1	APN	11	120285349	splice site	probably benign
IGL02609:Bahcc1	APN	11	120289398	missense	possibly damaging	0.93
IGL02678:Bahcc1	APN	11	120272871	missense	probably damaging	1.00
IGL02800:Bahcc1	APN	11	120272934	missense	probably damaging	1.00
IGL02963:Bahcc1	APN	11	120274932	missense	possibly damaging	0.86
IGL03128:Bahcc1	APN	11	120268434	splice site	probably benign
IGL03242:Bahcc1	APN	11	120268300	splice site	probably benign
IGL03248:Bahcc1	APN	11	120268409	missense	probably damaging	1.00
Dimensionality	UTSW	11	120273009	missense	probably damaging	1.00
R0019:Bahcc1	UTSW	11	120289771	missense	probably damaging	1.00
R0040:Bahcc1	UTSW	11	120268370	missense	probably damaging	1.00
R0040:Bahcc1	UTSW	11	120268370	missense	probably damaging	1.00
R0148:Bahcc1	UTSW	11	120268404	missense	probably damaging	1.00
R0164:Bahcc1	UTSW	11	120285074	splice site	probably benign
R0321:Bahcc1	UTSW	11	120273425	critical splice donor site	probably null
R0671:Bahcc1	UTSW	11	120287320	missense	probably damaging	1.00
R0737:Bahcc1	UTSW	11	120272841	missense	probably damaging	1.00
R1452:Bahcc1	UTSW	11	120282239	splice site	probably benign
R1570:Bahcc1	UTSW	11	120272183	missense	possibly damaging	0.74
R1914:Bahcc1	UTSW	11	120285399	missense	probably damaging	1.00
R2010:Bahcc1	UTSW	11	120272778	missense	probably damaging	1.00
R2075:Bahcc1	UTSW	11	120271689	missense	probably damaging	1.00
R2085:Bahcc1	UTSW	11	120288082	missense	probably damaging	1.00
R3552:Bahcc1	UTSW	11	120276772	missense	possibly damaging	0.90
R3711:Bahcc1	UTSW	11	120275097	missense	probably benign	0.27
R3804:Bahcc1	UTSW	11	120283358	missense	probably benign	0.01
R4349:Bahcc1	UTSW	11	120259201	missense	probably damaging	1.00
R4557:Bahcc1	UTSW	11	120275088	missense	probably damaging	1.00
R4801:Bahcc1	UTSW	11	120282225	missense	probably benign	0.00
R4802:Bahcc1	UTSW	11	120282225	missense	probably benign	0.00
R4908:Bahcc1	UTSW	11	120287754	missense	probably benign	0.36
R4941:Bahcc1	UTSW	11	120286665	missense	probably benign
R5217:Bahcc1	UTSW	11	120274459	nonsense	probably null
R5432:Bahcc1	UTSW	11	120287988	missense	probably benign	0.02
R5696:Bahcc1	UTSW	11	120273987	missense	probably damaging	1.00
R5724:Bahcc1	UTSW	11	120285366	missense	possibly damaging	0.78
R5725:Bahcc1	UTSW	11	120274888	missense	probably benign
R5788:Bahcc1	UTSW	11	120286352	missense	probably damaging	1.00
R5893:Bahcc1	UTSW	11	120285430	missense	probably damaging	0.99
R5900:Bahcc1	UTSW	11	120284493	missense	probably damaging	1.00
R6014:Bahcc1	UTSW	11	120289789	missense	probably benign	0.00
R6058:Bahcc1	UTSW	11	120287385	missense	probably damaging	1.00
R6107:Bahcc1	UTSW	11	120272888	missense	probably benign	0.00
R6302:Bahcc1	UTSW	11	120276808	missense	probably damaging	1.00
R6525:Bahcc1	UTSW	11	120285222	missense	probably damaging	1.00
R6550:Bahcc1	UTSW	11	120276651	missense	possibly damaging	0.94
R6822:Bahcc1	UTSW	11	120287721	missense	probably damaging	1.00
R6836:Bahcc1	UTSW	11	120271757	nonsense	probably null
R6846:Bahcc1	UTSW	11	120271596	missense	possibly damaging	0.92
R6916:Bahcc1	UTSW	11	120273009	missense	probably damaging	1.00
R6966:Bahcc1	UTSW	11	120283159	missense	probably damaging	0.99
R7097:Bahcc1	UTSW	11	120272646	missense	possibly damaging	0.87
R7289:Bahcc1	UTSW	11	120280174	missense	probably benign	0.08
R7441:Bahcc1	UTSW	11	120286306	missense	probably damaging	0.99
R7520:Bahcc1	UTSW	11	120276205	missense	possibly damaging	0.47
R7556:Bahcc1	UTSW	11	120287763	missense	probably damaging	1.00
R7672:Bahcc1	UTSW	11	120283346	missense	possibly damaging	0.63
R7791:Bahcc1	UTSW	11	120268377	missense	probably damaging	1.00
R7794:Bahcc1	UTSW	11	120272681	nonsense	probably null
R7802:Bahcc1	UTSW	11	120274692	missense	probably benign	0.03
X0026:Bahcc1	UTSW	11	120271752	missense	probably benign	0.20
Z1176:Bahcc1	UTSW	11	120276609	missense	possibly damaging	0.89
Z1176:Bahcc1	UTSW	11	120284394	missense	probably benign	0.00
Z1177:Bahcc1	UTSW	11	120272921	missense	possibly damaging	0.73

Predicted Primers

PCR Primer
(F):5'- TGGCCAGCCTTCAGAAAG -3'
(R):5'- GCACCAGCTTCTGTCGATC -3'

Sequencing Primer
(F):5'- TCAGAAGAAGGTGTTAGCTCTCC -3'
(R):5'- ACTGTCTTCCTCCACAGCTGG -3'

Posted On

2016-07-06