Mutagenetix > Incidental Mutation

Incidental Mutation 'R8855:Serpinb6c'

675272

Institutional Source

Beutler Lab

Gene Symbol

Serpinb6c

Ensembl Gene

ENSMUSG00000052180

Gene Name

serine (or cysteine) peptidase inhibitor, clade B, member 6c

Synonyms

Spi3C, SPIC, ovalbumin

MMRRC Submission

068736-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.153) question?

Stock #

R8855 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34063799-34089691 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34083309 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 35 (I35N)

Ref Sequence

ENSEMBL: ENSMUSP00000127619 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110273] [ENSMUST00000172184] [ENSMUST00000222216]

AlphaFold

W4VSP4

Predicted Effect

probably damaging
Transcript: ENSMUST00000110273
AA Change: I35N

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

SMART Domains

Protein: ENSMUSP00000105902
Gene: ENSMUSG00000052180
AA Change: I35N

Domain	Start	End	E-Value	Type
SERPIN	13	378	7.5e-170	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000172184
AA Change: I35N

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

SMART Domains

Protein: ENSMUSP00000127619
Gene: ENSMUSG00000052180
AA Change: I35N

Domain	Start	End	E-Value	Type
SERPIN	14	379	7.5e-170	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000222216
AA Change: I35N

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	C	T	3: 59,914,511 (GRCm39)	T38I	probably benign	Het
Ace	T	A	11: 105,861,424 (GRCm39)	L191*	probably null	Het
Ahctf1	G	A	1: 179,614,341 (GRCm39)	H451Y	probably damaging	Het
Amotl1	C	A	9: 14,466,869 (GRCm39)		probably null	Het
Angptl6	T	A	9: 20,786,940 (GRCm39)	Y261F	probably damaging	Het
Arhgap1	G	T	2: 91,499,744 (GRCm39)	S293I	probably benign	Het
Atg9a	A	C	1: 75,161,867 (GRCm39)	F560V	probably damaging	Het
B4galnt4	G	A	7: 140,648,488 (GRCm39)	G668D	possibly damaging	Het
Btaf1	T	A	19: 36,935,901 (GRCm39)	N230K	probably benign	Het
Ccne1	A	C	7: 37,800,046 (GRCm39)	H179Q	probably benign	Het
Cdk5rap2	A	T	4: 70,218,887 (GRCm39)	D623E	probably damaging	Het
Cenpf	C	A	1: 189,385,430 (GRCm39)	K2283N	probably benign	Het
Clec16a	A	T	16: 10,462,731 (GRCm39)	D683V	probably damaging	Het
Clvs2	T	C	10: 33,404,400 (GRCm39)	D272G	probably benign	Het
Cnksr1	A	G	4: 133,959,494 (GRCm39)	V380A	probably damaging	Het
Col20a1	C	A	2: 180,655,684 (GRCm39)	P42T		Het
Ddx47	A	G	6: 135,000,356 (GRCm39)	K451E	probably benign	Het
Dennd4a	G	A	9: 64,819,672 (GRCm39)	G1761D	probably benign	Het
Dnah11	T	A	12: 118,156,107 (GRCm39)	H181L	probably benign	Het
Dync1h1	T	C	12: 110,602,333 (GRCm39)	C2074R	probably damaging	Het
Ell2	A	T	13: 75,917,793 (GRCm39)	Q574H	probably damaging	Het
Enpp7	A	G	11: 118,879,191 (GRCm39)	N50S	possibly damaging	Het
Fbp2	T	C	13: 62,989,709 (GRCm39)	K199R	probably benign	Het
Fetub	A	T	16: 22,758,321 (GRCm39)	E368V	possibly damaging	Het
Flt1	A	T	5: 147,507,682 (GRCm39)	D1209E	probably benign	Het
Flt1	A	T	5: 147,618,460 (GRCm39)	N260K	probably damaging	Het
Fras1	A	G	5: 96,917,465 (GRCm39)	H3495R		Het
Fsip2	A	G	2: 82,810,521 (GRCm39)	Q2280R	probably benign	Het
Gja10	A	T	4: 32,601,573 (GRCm39)	C270*	probably null	Het
Gpld1	A	G	13: 25,170,890 (GRCm39)	T794A	probably benign	Het
Gsk3b	A	G	16: 38,004,900 (GRCm39)	Y157C	probably damaging	Het
Gsta2	T	C	9: 78,244,880 (GRCm39)	K78R	probably damaging	Het
Gtf3a	A	G	5: 146,885,721 (GRCm39)	D44G	probably benign	Het
Hap1	C	A	11: 100,246,864 (GRCm39)	G14W	probably damaging	Het
Hcn4	T	A	9: 58,765,387 (GRCm39)	I623N	unknown	Het
Kank1	T	C	19: 25,388,702 (GRCm39)	S792P	possibly damaging	Het
Klra5	A	T	6: 129,880,533 (GRCm39)	W212R	probably damaging	Het
Kmt2d	A	T	15: 98,754,237 (GRCm39)	L1622Q	unknown	Het
Lipi	T	A	16: 75,355,481 (GRCm39)	D343V	probably damaging	Het
Lrp6	A	T	6: 134,445,785 (GRCm39)	N1009K	probably benign	Het
Lrrc39	T	A	3: 116,363,790 (GRCm39)	I121N	probably damaging	Het
Mamstr	A	T	7: 45,294,403 (GRCm39)	D419V	probably benign	Het
Map2k7	C	T	8: 4,293,594 (GRCm39)	T119I	probably damaging	Het
Mov10l1	A	T	15: 88,896,169 (GRCm39)	D671V	probably benign	Het
Mrps24	A	T	11: 5,654,642 (GRCm39)	L104Q	probably damaging	Het
Myh1	T	A	11: 67,102,247 (GRCm39)	L846H	probably damaging	Het
Ndufaf5	T	A	2: 140,025,840 (GRCm39)	I133N	possibly damaging	Het
Ndufs5	A	G	4: 123,609,655 (GRCm39)		probably null	Het
Numa1	G	C	7: 101,639,835 (GRCm39)	D62H	possibly damaging	Het
Or10g3	A	T	14: 52,610,196 (GRCm39)	Y105N	probably damaging	Het
Or52e19	T	A	7: 102,959,168 (GRCm39)	I80N	probably damaging	Het
Or52p2	G	T	7: 102,237,945 (GRCm39)	Q2K	probably benign	Het
Or8b12c	C	G	9: 37,715,709 (GRCm39)	F167L	probably damaging	Het
Pag1	T	C	3: 9,764,529 (GRCm39)	K208R	probably benign	Het
Pkd1	T	C	17: 24,792,051 (GRCm39)	V1246A	probably damaging	Het
Plekhg2	T	C	7: 28,069,526 (GRCm39)	T144A	probably benign	Het
Plekhm2	A	T	4: 141,361,658 (GRCm39)	S262T	probably benign	Het
Pramel14	A	T	4: 143,720,905 (GRCm39)	L12Q	probably damaging	Het
Prpf4	A	G	4: 62,334,235 (GRCm39)	D230G	probably benign	Het
Rbm15b	C	T	9: 106,763,595 (GRCm39)	R191Q	probably benign	Het
Sec16a	G	A	2: 26,329,852 (GRCm39)	T721I	probably benign	Het
Sgk1	T	G	10: 21,871,726 (GRCm39)	S181A	probably benign	Het
Slc25a10	T	C	11: 120,385,795 (GRCm39)	S74P	probably damaging	Het
Slc30a3	C	A	5: 31,245,325 (GRCm39)	V332F	possibly damaging	Het
Smg1	A	G	7: 117,806,122 (GRCm39)	S240P	unknown	Het
Snapc4	G	A	2: 26,264,545 (GRCm39)	R265W	probably damaging	Het
Taar1	C	T	10: 23,796,976 (GRCm39)	R225C	possibly damaging	Het
Tmem74	A	G	15: 43,730,231 (GRCm39)	S271P	probably damaging	Het
Trank1	T	C	9: 111,141,289 (GRCm39)	V127A	unknown	Het
Trim66	G	T	7: 109,081,188 (GRCm39)	H244N	probably damaging	Het
Tshz2	T	A	2: 169,728,425 (GRCm39)	L1007H	probably damaging	Het
Ttc39c	A	T	18: 12,831,003 (GRCm39)	S288C	probably benign	Het
Twnk	C	T	19: 45,000,272 (GRCm39)	Q663*	probably null	Het
Ucn	T	A	5: 31,295,857 (GRCm39)	Q3L	probably benign	Het
Usp9y	C	T	Y: 1,395,758 (GRCm39)	R492H	probably damaging	Het
Vars1	T	C	17: 35,234,620 (GRCm39)	S1150P	probably benign	Het
Zc3h7b	G	A	15: 81,656,681 (GRCm39)	R166Q	probably benign	Het
Zfand1	T	C	3: 10,405,811 (GRCm39)	D264G	probably benign	Het
Zfp839	A	G	12: 110,834,848 (GRCm39)	E701G	probably benign	Het

Other mutations in Serpinb6c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00852:Serpinb6c	APN	13	34,081,321 (GRCm39)	splice site	probably null
IGL01900:Serpinb6c	APN	13	34,064,173 (GRCm39)	missense	possibly damaging	0.88
IGL01983:Serpinb6c	APN	13	34,081,317 (GRCm39)	splice site	probably benign
IGL03357:Serpinb6c	APN	13	34,079,369 (GRCm39)	missense	probably benign	0.08
R0208:Serpinb6c	UTSW	13	34,081,379 (GRCm39)	missense	probably benign
R0242:Serpinb6c	UTSW	13	34,083,230 (GRCm39)	splice site	probably benign
R0632:Serpinb6c	UTSW	13	34,064,014 (GRCm39)	missense	possibly damaging	0.86
R0669:Serpinb6c	UTSW	13	34,083,252 (GRCm39)	missense	probably damaging	0.98
R0848:Serpinb6c	UTSW	13	34,083,288 (GRCm39)	missense	probably damaging	1.00
R1657:Serpinb6c	UTSW	13	34,064,209 (GRCm39)	missense	probably benign	0.01
R3911:Serpinb6c	UTSW	13	34,077,888 (GRCm39)	missense	probably benign	0.00
R5135:Serpinb6c	UTSW	13	34,064,080 (GRCm39)	missense	probably damaging	1.00
R5275:Serpinb6c	UTSW	13	34,077,800 (GRCm39)	missense	probably damaging	1.00
R5295:Serpinb6c	UTSW	13	34,077,800 (GRCm39)	missense	probably damaging	1.00
R5700:Serpinb6c	UTSW	13	34,083,291 (GRCm39)	missense	probably damaging	1.00
R7490:Serpinb6c	UTSW	13	34,077,818 (GRCm39)	missense	probably benign	0.04
R7514:Serpinb6c	UTSW	13	34,081,386 (GRCm39)	nonsense	probably null
R7517:Serpinb6c	UTSW	13	34,079,278 (GRCm39)	missense	probably damaging	1.00
R7547:Serpinb6c	UTSW	13	34,077,875 (GRCm39)	missense	possibly damaging	0.80
R7730:Serpinb6c	UTSW	13	34,083,292 (GRCm39)	missense	probably damaging	1.00
R8121:Serpinb6c	UTSW	13	34,064,201 (GRCm39)	missense	probably benign	0.38
R8142:Serpinb6c	UTSW	13	34,064,096 (GRCm39)	missense	probably benign	0.00
R8745:Serpinb6c	UTSW	13	34,064,702 (GRCm39)	missense	probably benign	0.06
R8866:Serpinb6c	UTSW	13	34,083,309 (GRCm39)	missense	probably damaging	1.00
R9412:Serpinb6c	UTSW	13	34,081,371 (GRCm39)	missense	probably benign	0.00
R9489:Serpinb6c	UTSW	13	34,081,421 (GRCm39)	missense	probably null	0.20
R9643:Serpinb6c	UTSW	13	34,079,303 (GRCm39)	missense	probably benign	0.00
X0063:Serpinb6c	UTSW	13	34,064,688 (GRCm39)	missense	possibly damaging	0.76
Z1088:Serpinb6c	UTSW	13	34,077,906 (GRCm39)	missense	probably benign	0.01
Z1088:Serpinb6c	UTSW	13	34,077,855 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTATCACATCCTGCCCATCATG -3'
(R):5'- TGTGCCTTGTTCACTGAGTCAG -3'

Sequencing Primer
(F):5'- ATCATGTCTCCAGTCACACCC -3'
(R):5'- GTTCACTGAGTCAGAGTATCACAGTG -3'

Posted On

2021-07-15